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Genetics, Genomics, and Their Clinical Importance
Genomics:
The study of the entire genome, rather than only individual genes
Genome:
The complete set of genetic instructions found in a cell
Shift from genetics to genomics:
Sequencing the human genome expanded clinical attention from individual genes to interactions:
Clinical significance:
Genetic and genomic tools help:
identify hereditary contributions to disease
improve the ability to predict disease:
susceptibility
Onset
Progression
response to medications
Precision or personalized medicine:
Tailors prevention and treatment to the individual
Epigenetics:
Heritable changes in gene activity
caused by activation/deactivation of genes w/o changing DNA sequence
Pharmacogenomics:
Examines genetic differences influencing how medications are:
absorbed
move through the bod
metabolized
results may:
guide medication selection/dosing
reduce adverse reactions
Nursing Roles in Genetics and Genomics
Foundational responsibility:
All nurses need working knowledge of genetics and genomics
pts frequently seek help understanding:
inherited risks
testing options
results
Preconception care:
Review personal/family Hx
discuss carrier-testing options
identify individuals or couples who may benefit from genetic counseling before pregnancy
Carrier testing:
Help pts understand screening intended to identify individuals carrying a gene variant that could be passed to children
even when carrier does not have condition
Prenatal screening and testing
Labor and birth care:
Anticipate specialized care needs when the pregnant patient or fetus has a known genetic condition.
Newborn screening:
Support screening
identify possible genetic conditions
explains follow-up needs
coordinate care for the infant and family
Specialty and ongoing care:
prevention
assessment
treatment
referral for conditions
hereditary breast and ovarian CA
Lynch syndrome
cystic fibrosis
sickle cell disease
Factor V Leiden
Palliative care:
Support infants with life-threatening genetic conditions
provide compassionate, family-centered care
Psychosocial support
Patient autonomy:
Respect decisions to accept or decline screening, testing, or other interventions
Human Genome Project and Clinical Applications
Definition:
A publicly funded international effort to map the complete human genome.
Clinical impact:
Genome sequencing improved:
identification of disease-associated genes
expanded genetic-testing options
strengthened individualized risk assessment
supported more targeted care
Family history remains important:
family Hx highly useful and cost-effective source of genetic information
reveals family relationships, health behaviors, and social context.
Human Genome Project and Clinical Applications - Prenatal screening and diagnostic options
Maternal serum screening:
Listed as a prenatal screening option; this chapter does not explain the specific markers, timing, or interpretation.
Fetal ultrasound:
Listed as a prenatal assessment option; this chapter does not provide the detailed genetic-screening procedure or interpretation.
Amniocentesis:
Listed as a prenatal testing option; fetal cells in amniotic fluid can be used for chromosomal analysis, and cells obtained by amniocentesis can support prenatal microarray testing.
Chorionic villus sampling / CVS:
Listed as a prenatal testing option; cells obtained through CVS can support prenatal microarray analysis.
Additional options discussed:
Preimplantation testing, expanded carrier screening, cell-free fetal DNA screening, prenatal microarray, whole-exome sequencing, and whole-genome sequencing.
Chapter limitation:
The supplied chapter names the four traditional prenatal tests but directs readers elsewhere for detailed descriptions; those additional details are not included here.
Human Genome Project and Clinical Applications - Predictive testing: an important distinction
Presymptomatic testing:
Identifies a mutation associated with a condition expected to develop if the individual lives long enough; the chapter uses Huntington disease as an example.
Predispositional testing:
Identifies an inherited mutation associated with increased disease risk but does not establish that the condition will definitely occur; BRCA1 and BRCA2 testing are examples.
Ethical, Legal, and Social Implications
Privacy and confidentiality:
Genetic information can reveal sensitive details about a patient and biologic relatives; disclosure and access must be handled carefully.
Genetic discrimination:
The chapter identifies concern about unfair use of genetic information in employment and insurance.
Autonomy:
Patients and families should make their own decisions about whether to undergo testing after receiving understandable information and support.
Informed consent:
Explain the purpose, potential benefits, limitations, uncertainties, and possible consequences of testing. Consent can be difficult when future outcomes or available treatments remain uncertain.
Family implications:
A genetic result may have significance for relatives, creating difficult questions about whether and how inherited risks should be shared.
False-positive results:
A test can suggest a condition that is not actually present, potentially producing anxiety or unnecessary interventions.
False-negative results:
A test can miss a condition or risk, potentially creating inappropriate reassurance or delaying recommended surveillance.
Access and fairness:
Cost, insurance coverage, rural location, and availability of trained specialists can limit access to genetic services.
Cultural considerations:
Views about disability, pregnancy, medical intervention, and acceptable risk can differ among individuals and families; counseling should remain respectful and individualized.
Nondirective counseling:
Provide accurate information and support without pressuring patients toward a particular reproductive, testing, or treatment decision.
Essential Genetics Vocabulary
Chromosome:
A threadlike structure composed of DNA and containing many genes.
Somatic cell:
A body cell that ordinarily contains 46 chromosomes, arranged as 23 pairs.
Autosomes:
The 22 chromosome pairs that are not sex chromosomes.
Sex chromosomes:
The remaining chromosome pair. The chapter designates a typical female karyotype as 46,XX and a typical male karyotype as 46,XY.
Alleles:
Different versions of a gene located at corresponding positions on paired chromosomes.
Homozygous:
Having two copies of the same allele for a particular trait, such as BB or bb.
Heterozygous:
Having two different alleles for a particular trait, such as Bb.
Important distinction:
XX and XY describe sex-chromosome combinations; they are not examples of homozygous and heterozygous allele pairs.
Genotype:
An individual’s genetic makeup for a particular gene pair, such as Bb; the term can also refer more broadly to overall genetic makeup.
Phenotype:
The observable expression of a genotype, such as a physical characteristic, biochemical trait, or other expressed feature.
Dominant allele:
An allele expressed when only one copy is present; uppercase B can represent a dominant allele in a simplified inheritance example.
Recessive allele:
An allele generally expressed when two copies are present; lowercase b can represent a recessive allele in a simplified autosomal inheritance example.
Carrier:
An individual with one variant allele for a recessive condition who may pass that allele to offspring without necessarily expressing the condition.
Karyotype:
An organized pictorial analysis of chromosome number, size, and shape used to identify chromosomal abnormalities.
Diploid:
Containing two sets of chromosomes; most human somatic cells are diploid and have 46 chromosomes.
Haploid:
Containing one chromosome set; human egg and sperm cells normally have 23 chromosomes.
Cell Division and Chromosomal Abnormalities
Mitosis:
Division of somatic cells producing daughter cells with the diploid chromosome number.
Meiosis:
Division involved in egg and sperm formation that reduces chromosome number to a haploid set.
Why errors matter:
Mistakes during either mitosis or meiosis can produce abnormal chromosome numbers or structural changes affecting development, pregnancy outcomes, or reproductive function.
Nondisjunction:
Failure of chromosomes to separate normally during cell division, potentially creating cells or gametes with an extra or missing chromosome.
Mosaicism:
The presence of different cell populations within the same individual, such as some cells with a normal chromosome number and others with an extra or missing chromosome; may result from an early mitotic error.
Autosomal Abnormalities
Definition:
Abnormalities involving the number or structure of autosomes
chromosome pairs 1 through 22
Autosomal Abnormalities - Abnormalities of chromosome number
Euploidy:
The correct chromosome number for a cell, such as 23 chromosomes in a gamete or 46 in a typical somatic cell.
Aneuploidy:
An abnormal number of individual chromosomes rather than an entire extra chromosome set.
Monosomy:
One chromosome of a pair is missing; an affected cell commonly contains 45 total chromosomes.
Trisomy:
An extra chromosome is present; an affected cell commonly contains 47 total chromosomes.
Down syndrome:
Usually caused by trisomy 21; the chapter also describes translocation and mosaic forms.
Other examples:
Trisomy 18 is Edwards syndrome, and trisomy 13 is Patau syndrome.
Polyploidy:
An extra complete set or sets of chromosomes; the chapter gives triploidy with 69 chromosomes and tetraploidy with 92 chromosomes as examples.
Maternal age relationship:
many trisomies arise from meiotic nondisjunction
likelihood of these errors increases with advancing maternal age
Autosomal Abnormalities - Abnormalities of chromosome structure
Translocation:
Chromosomal material is exchanged between chromosomes
or moved from one chromosome to another
Balanced versus unbalanced translocation:
A balanced rearrangement may not change the total amount of genetic material
an unbalanced rearrangement produces extra or missing material and may affect development or reproduction.
Duplication:
An extra copy of a chromosomal segment is present.
Deletion:
A segment of chromosomal material is lost.
Microdeletion:
A very small deleted chromosomal segment that may require specialized testing for identification.
Inversion:
A chromosome segment is rearranged in reverse order.
High-yield distinction:
An extra or missing whole chromosome is a numerical abnormality
exchange, duplication, deletion, or reversal of a chromosome segment is a structural abnormality
Sex-Chromosome Abnormalities - Turner syndrome
Chromosome pattern:
Monosomy X
written 45,X
one sex chromosome is missing
Typical characteristics described:
Short stature, underdeveloped ovaries, juvenile external genitalia, a webbed neck, low posterior hairline, low-set ears, and swelling of the hands or feet.
Associated concerns:
Heart defects, kidney problems, and infertility
many affected pregnancies miscarry spontaneously
Klinefelter syndrome - Klinefelter syndrome
Chromosome pattern:
An extra X chromosome in a male, commonly written 47,XXY.
Typical characteristics described:
small testes, reduced testosterone production, delayed or incomplete puberty, breast enlargement, reduced facial or body hair, and taller stature.
Associated concerns:
Infertility, learning difficulties, and delayed speech or language
some individuals with mosaic Klinefelter syndrome may remain fertile
Patterns of Genetic Transmission
Unifactorial / single-gene inheritance:
A trait or disorder is controlled primarily by a single gene
follows an identifiable inheritance pattern
Multifactorial inheritance:
A trait or condition results from multiple genetic influences interacting with environmental factors
Autosomal versus X-linked:
Autosomal conditions involve genes on chromosome pairs 1 through 22
X-linked conditions involve genes located on the X chromosome
Dominant versus recessive:
Dominant traits generally require one variant allele for expression
recessive autosomal traits generally require two variant alleles
Patterns of Genetic Transmission - Autosomal recessive inheritance
Mechanism:
Two disease-associated alleles, one inherited from each parent, are required for the condition to be expressed
Carrier parents:
When both parents carry one affected allele, each pregnancy has:
25% chance of an affected child
50% chance of an unaffected carrier
25% chance of a child with two unaffected alleles
Family pattern:
The condition may appear among siblings
even when neither parent has symptoms
males and females are equally likely to be affected.
Examples named in the chapter:
Sickle cell disease
cystic fibrosis
phenylalanine hydroxylase deficiency
galactosemia
fructosemia
Independent pregnancies:
The probability applies separately to every pregnancy
previous affected or unaffected children do not change the single-gene recurrence probability
Patterns of Genetic Transmission - Autosomal dominant inheritance
Mechanism:
One variant allele on an autosome is sufficient for the trait or disorder to be expressed
Transmission risk:
When one heterozygous parent is affected and other parent is unaffected:
each pregnancy has 50% chance of inheriting variant allele
Family pattern:
Often appears across successive generations
males and females can be affected
Variation:
Severity can differ among affected relatives
new mutation may appear in someone w/o a known family Hx
Examples named in the chapter:
Huntington disease
Marfan syndrome
neurofibromatosis
achondroplasia
Factor V Leiden
hereditary BRCA-related CA susceptibility
Cancer Genomics
Oncogenes:
Altered forms of proto-oncogenes that encourage excessive cell growth
Tumor suppressor genes:
Normally slow or regulate cell growth
harmful mutations remove these controls
similar to losing the brakes on cell division
Cancer Genomics - Hereditary breast and ovarian cancer: BRCA1 and BRCA2
Clinical significance:
Harmful inherited BRCA1 or BRCA2 variants increase susceptibility to breast/ovarian CA
Inheritance pattern:
BRCA-related hereditary CA susceptibility is autosomal dominant
affected parent has 50% chance of passing the variant to each child
Risk is not certainty:
A positive BRCA result indicates increased CA susceptibility, rather than a guarantee that CA will develop
Other associated CA:
BRCA-related variants may also increase risk for additional CA
including pancreatic and prostate CA
Cancer Genomics - Hereditary colorectal cancer
Familial adenomatous polyposis / FAP:
An autosomal dominant condition, associated with:
harmful changes in the APC tumor suppressor gene
development of numerous colon polyps
Lynch syndrome:
AKA hereditary nonpolyposis colorectal CA
autosomal dominant condition caused by harmful changes in DNA mismatch-repair genes
Associated CA risks:
Lynch syndrome increases colorectal and uterine CA risk
can also increase risk for CAs of the stomach, small intestine, liver, gallbladder, urinary tract, brain, and skin
Sickle Cell Disease as an Inheritance Example
What the chapter establishes:
Sickle cell disease is identified as an autosomal recessive genetic condition for which carrier screening and genetic counseling may be relevant.
Carrier concept:
A person with one disease-associated allele may carry and pass on that allele without having the autosomal recessive condition.
Two-carrier example:
When both parents are carriers, each pregnancy has:
25% chance of an affected child
50% chance of an unaffected carrier
25% chance of a child w/o disease-associated allele
Genetic Assessment, Counseling, and Nursing Follow-Through
Occurrence risk:
probability of a genetic condition occurring when a couple has not yet had an affected child
Recurrence risk:
probability that a genetic condition will occur again after a previous affected pregnancy or child
Pregnancy Length and Trimesters
Gestation:
~ 40 weeks (280 days) measured from 1st day LMP
approximately 266 days from conception
1st trimester:
0 weeks - 13 6/7 weeks
2nd trimester:
14 0/7 weeks - 27 6/7 weeks
3rd trimester:
28 0/7 weeks - 40 6/7 weeks
Reproductive-System Adaptations - Uterus
Enlargement:
Estrogen and progesterone stimulate increase in:
Vascularity
blood-vessel dilation
muscle-cell hyperplasia
hypertrophy
decidual development
Uterine volume increases
~ 10mL before pregnancy
5L at term
Early size landmarks:
7 weeks
~ large hen’s egg
10 weeks
Orange
12 weeks
grapefruit
Position:
1st trimester → pelvis
rises into abdomen by ~12 weeks
~ 20 - 22 weeks
reaches the umbilicus
(near term)
approaches the xiphoid process
Lightening:
~ 38 - 40 weeks
fundal height decreases
fetus descends into the pelvis
occurs ~ 2 weeks before labor in nullipara
occurs near labor in a multipara
Reproductive-System Adaptations - Uteroplacental blood flow
Increase:
Uterine blood flow increases ~ x10
by term:
450 - 650 mL/min
~1/6 of maternal blood volume is w/n uterine vascular system
Purpose:
Supplies O2/nutrients required by placenta and fetus
uterine O2 consumption is greatest during last trimester
fetal growth accelerates during
Factors that decrease flow:
Low maternal arterial pressure
uterine contractions
maternal supine position
Reproductive-System Adaptations - Ballottement and quickening
Ballottement:
Passive movement of an unengaged fetus
examiner gently taps the cervix > fetus rises > rebound against finger
detected at 16 - 18 weeks
Quickening:
Pts 1st recognition of fetal movement
multipara may notice it at 14 - 16 weeks
nullipara may not recognize it until 18 weeks or later
often described as “fluttering”
Reproductive-System Adaptations - Cervix, vagina, and leukorrhea
Cervical softening:
Goodell sign
Softening of the cervical tip by increasing:
Vascularity
Hypertrophy
Hyperplasia
can be observed near 6 weeks
Mucous plug:
Increased endocervical mucus fills the canal
forms operculum
is rich in immunoglobulins
acts as a barrier against bacterial invasion
Friability:
cervix damages/bleeds easily
vaginal examination
deep intercourse
Chadwick sign:
Increased vascularity produces indigo color of the vaginal mucosa and cervix
visible at ~6 - 8 weeks
Leukorrhea:
Increased white or slightly gray mucoid vaginal discharge
faint musty odor
results from cervical stimulation by estrogen and progesterone
Breast Adaptations
Early sensations:
Rising estrogen and progesterone in early pregnancy, causing
Fullness
Heaviness
Tingling
heightened sensitivity
Discomfort
mild tingling to sharp pain
Nipples and areolae:
Largens
Stiffens
more deeply pigmented
Montgomery tubercles:
Enlarged sebaceous glands around nipples
Drools lubricating and anti-infective substances
protect nipples and areolae during breastfeeding
Vascularity:
Increased breast blood supply
Causes bluish venous network more visible beneath skin
Preparation for lactation:
Estrogen promotes lactiferous-duct growth
progesterone promotes mammary-lobe development
prolactin, progesterone, and placental lactogen support differentiation of milk-producing cells
Colostrum:
1st trimester
By end, Prolactin stimulates production
2nd trimester
placental lactogen also stimulates secretion
colostrum may be expressed from the nipples
Cardiovascular Adaptations
Blood volume:
Total blood volume increases ~ 40% - 45%
At 32 weeks →
reaches ~ 1200 - 1600mL above nonpregnant level
Cardiac output:
Increases ~ 30% - 50%
peaks ~ 25 - 30 week
declines to ~ 20% above baseline by 40 weeks
Blood pressure:
Systolic BP changes little or decreases slightly
Diastolic BP falls through midpregnancy
especially 24 -32 weeks
approaches prepregnancy values by term
Supine hypotensive syndrome:
During 2nd half of pregnancy
uterus can compress vena cava when lying supine
Decreases venous return and cardiac output
Causes:
Pallor
Dizziness
Tachycardia
Nausea
clammy skin
hypotension
Lateral positioning relieves compression
Cardiac position and size:
Slight hypertrophy occurs
elevation of diaphragm moves heart
upward and rotated forward/left
Heart rate:
Begins increasing around 5 weeks
rises ~10 - 20bpm by 32 weeks
Cardiovascular Adaptations - Blood components
Physiologic anemia:
Plasma volume rises more than red-blood-cell mass
decreases hemoglobin and hematocrit, despite increase in total RBC mass
most noticeable during 2nd trimester
White blood cells:
WBC count begins rising early in pregnancy
remains elevated
Hypercoagulability:
Protection against hemorrhage
Increased clotting factors
reduced clot-dissolving activity
However – increases thromboembolic risk
Respiratory Adaptations
Oxygen demand:
Maternal O2 consumption rises ~ 20% - 40% to meet maternal/placental/fetal needs
Structural changes:
diaphragm rises as much as 4cm
costal angle widens
lower ribs flare
thoracic diameter increases as rib-cage ligaments relax
Breathing pattern:
Chest breathing increasingly replaces abdominal breathing
diaphragmatic descent limited by growing uterus
Respiratory rate:
Usually unchanged or only slightly increased
not markedly increased as a normal adaptation
Tidal volume:
Increases ~40%
minute ventilation rises ~ 30% -50%
Congestion:
Capillary engorgement and mucosal edema can cause:
stuffiness/congestion
Epistaxis
altered voice
ear fullness, impaired hearing
Physiologic dyspnea:
May begin in 1st or 2nd trimester
become more noticeable from mechanical pressure later in pregnancy
distinguish it from pathologic dyspnea
Basal metabolic rate:
Rises progressively, in part contributing to increased ventilatory needs
thyroid changes can increase BMR by up to 25%
Respiratory alkalosis:
Chronic mild hyperventilation lowers CO2 and bicarb
slightly raises pH
facilitates fetal-to-maternal CO2 transfer and maternal-to-fetal O2 transfer
Gastrointestinal Adaptations
Decreased tone and motility:
Progesterone relaxes smooth muscle
slows stomach emptying
Slows intestinal movement
Can cause:
Reflux
Heartburn
Constipation
abdominal distention
Nausea and vomiting:
Usually begins at 4 - 6 weeks
peaks around 8 - 12 weeks
subsides by end of 1st trimester.
Requires evaluation:
Excessive vomiting
vomiting with:
Fever
Pain
weight loss
Appetite and taste:
Food intake may fluctuate early
appetite generally increases by end of 2nd trimester
metabolic needs rise
Possible changes in taste, cravings, or pica
Gallbladder:
Reduced muscle tone, causes:
Distention
delayed emptying
prolonged bile retention
changes can contribute to cholelithiasis
Gums:
Increased estrogen-related vascularity, can cause:
Swelling
Sponginess
Hyperemic (redness/irritation)
prone to bleeding
A pregnancy-related gingival nodule may develop
Abdominal discomfort:
Caused by:
Pelvic pressure
round-ligament tension
Flatulence
distention
bowel cramping
displacement of abdominal organs
abnormal or severe Sx require evaluation
Urinary Adaptations
Frequency and urgency:
Common in early pregnancy from bladder sensitivity and in 3rd trimester from uterine compression
dysuria is not expected
suggests another cause
Kidney and ureter changes:
Kidneys enlarge
renal pelves and ureters dilate
slowed urine flow
creates urinary stasis
increased susceptibility to UTI
Renal blood flow:
Renal plasma flow rises early
peaks ~ 60% - 80% above baseline in 2nd trimester
it remains elevated until declining after 34 weeks
Glomerular filtration rate:
Increases approximately 50% during the first trimester and remains elevated throughout pregnancy.
Position:
Renal function is:
most efficient laterally
least efficient supine
side-lying improves:
renal perfusion
urine output
dependent edema
Sodium and water:
~950 mEq of sodium is retained
Supports expanded intravascular and extracellular volume
serum sodium levels slightly decreases
Safety:
Excessive sodium intake or restriction and diuretic use can overstress normal adaptations
diuretics can cause:
hypovolemia
reduced placental perfusion
Integumentary Adaptations
Melasma / chloasma / mask of pregnancy:
Blotchy brown facial hyperpigmentation
Cheeks
Nose
Forehead
usually begins after 16 weeks
may become more prominent with sun exposure
Linea nigra:
Pigmented midline extending from symphysis pubis toward the uterine fundus
develops as the previously pale linea alba darkens
Striae gravidarum:
Stretch marks
caused by separation within dermal connective tissue
usually forms during 2nd half of pregnancy
fade after birth, don’t completely disappear
Angiomata / vascular spiders:
Small star-shaped vascular lesions
commonly on:
Neck
Chest
Face
Arms
Due to increased cutaneous blood flow and estrogen
Palmar erythema:
Pink-red mottled or defined redness of the palms
Due to increased estrogen
Musculoskeletal Adaptations
Increasing weight and posture
Center of gravity:
Shifts forward
affects balance, increasing fall risk
Lordosis:
normal lumbosacral curve increases
compensatory upper-spine curvature helps maintain balance
may lead to back discomfort
Joint laxity:
Specific joints increased mobility
Sacroiliac
Sacrococcygeal
Pubic
Potential pain and waddling gait, due to:
Widening of the symphysis pubis
pelvic instability
Diastasis recti abdominis:
During 3rd trimester, rectus muscles may separate
allows abdominal contents to protrude at the midline
separation can persist postpartum
Leg cramps:
May result from:
calcium-phosphorus metabolic changes
pressure from the uterus on pelvic blood vessels and nerves
Restless leg syndrome:
Common in the latter half of pregnancy
often worse during rest or at night
generally subsides after birth
Neurologic Adaptations
Lightheadedness and faintness:
Common early in pregnancy
may result:
from vasomotor instability
postural hypotension
Hypoglycemia
HA:
May reflect:
muscular tension
hormonal change
Eyestrain
emotional stress
Congestion
Fatigue
Migraine
HA can also indicate a complication such as preeclampsia
requires careful evaluation
Postural hypotension:
A positional fall in BP
can contribute to dizziness or syncope
Sleep changes:
Fatigue and increased sleep are common in 1st trimester
become more common later
difficulty falling asleep
frequent awakening
reduced sleep quality
shorter sleep periods
Vision changes:
Possible interference with contact-lens
Corneal edema
thickening and reduced intraocular pressure
can persist temporarily after birth
Smell sensitivity:
An enhanced sense of smell
new sensitivity to previously tolerated odors are common
Carpal tunnel syndrome:
3rd trimester edema can compress the median nerve
Sx usually regress postpartum
Endocrine and Immune Adaptations
Thyroid gland:
Hyperplasia and increased vascularity enlarge the gland
T3 and T4 rise
basal metabolic rate increases progressively
Maternal thyroid hormone supports fetal CNS development before fetal thyroid function is established
Pituitary gland:
Enlarges
prolactin-producing cells proliferate
prolactin begins rising ~ 5 weeks and prepares breasts for lactation
Pancreas:
After 1st trimester, insulin needs rise
placental hormones reduce maternal tissue sensitivity to insulin.
Pancreatic beta cells enlarge and increase in number
to produce more insulin
Immune function:
Protects the mother against infection
While preventing rejection of the genetically different fetus
pregnancy is not simply an immunosuppressed state
Trimester pattern:
1st trimester and early 2nd trimester are mainly proinflammatory for implantation and placentation
2nd trimester is predominantly anti-inflammatory during rapid fetal growth
proinflammatory state returns in 3rd trimester
to support labor-related changes
Estimated Date of Birth: Naegele’s Rule
Starting point: first day of LMP
Calculation:
Subtract 3 months
add 7 days
add 1 year
i.e.: December 10, 2021 → September 17, 2022
Presumptive signs
Subjective or nonspecific changes experienced by the patient; other conditions can produce the same findings.
Examples:
Breast changes, amenorrhea, nausea and vomiting, urinary frequency, fatigue, and quickening.
Quickening:
The pregnant patient’s first perception of fetal movement. Because bowel activity or gas can be mistaken for fetal movement, it is presumptive rather than confirmatory.
Probable signs
Findings that make pregnancy likely but can still have other causes.
Goodell sign:
Cervical softening.
Chadwick sign:
Color change of the cervix and vaginal tissues associated with pelvic vascular congestion.
Hegar sign:
Softening of the lower uterine segment.
Other probable findings:
Positive serum or urine pregnancy test, Braxton Hicks contractions, and ballottement.
Positive signs
Findings attributable to a fetus and therefore confirmatory.
Examples:
Visualization of the fetus by ultrasound; fetal heart tones detected by ultrasound, Doppler, or fetal stethoscope; and fetal movement palpated or visualized by an examiner.
Parental Adaptation to Pregnancy
Accepting the pregnancy:
The pregnant person gradually incorporates the pregnancy into their self-concept. Some ambivalence can occur even in a wanted pregnancy.
Identifying with the parent role:
Social and cognitive learning prepares the patient for increased responsibility and the new role.
Reordering relationships:
Relationships with the partner, mother or another significant woman, and other family members may change.
Establishing a relationship with the fetus:
Recognition of fetal movement can strengthen awareness of the fetus and emotional attachment.
Preparing for childbirth:
Anticipating the birth experience, learning about available options, and making practical plans support adaptation.
Nursing significance:
Assess acceptance, expectations, emotional well-being, and available support. Partner and family support can help patients accomplish developmental tasks; limited support may complicate adaptation.
Culture, Access, and Safe Prenatal Care
Cultural context:
Early routine prenatal care reflects a Western model of health care and may be unfamiliar to people who view pregnancy as a normal state that does not require professional care unless illness occurs.
Barriers:
Limited money, insurance coverage, transportation, language differences, cultural conflict, modesty concerns, and provider availability can delay or prevent prenatal care.
Culturally responsive nursing care:
Respect social, cultural, and language preferences; avoid stereotypes; ask about individual beliefs and practices; protect modesty; and build a trusting relationship.
Inclusive communication:
Use an individualized, nonjudgmental approach and avoid assumptions about family structure, sexual orientation, or gender identity.
Intimate partner violence screening:
Screen in a safe, private setting with the patient alone. The chapter recommends screening at the first prenatal visit, at least once each trimester, and at the postpartum visit; nurses often assess at every prenatal encounter.
Initial Prenatal Visit: Comprehensive Assessment
Purpose:
Establish baseline maternal and fetal information, identify risks early, plan individualized care, and develop a therapeutic relationship. The first visit is longer and more comprehensive than follow-up visits.
Current pregnancy:
Ask about pregnancy symptoms, first day of the last menstrual period, estimated gestational age, whether the pregnancy was planned or desired, and how the patient is coping.
Reproductive and sexual history:
Review previous pregnancies and outcomes, menstrual and contraceptive history, infertility or reproductive-system conditions, sexually transmitted infections, partners, and sexual practices.
Health and surgical history:
Identify chronic disease, genetic conditions, previous operations, and conditions that may affect pregnancy or be affected by it.
Medications, herbals, and substances:
Review prescription and over-the-counter medications, herbal preparations, caffeine, alcohol, tobacco, and other substances.
Immunizations:
Review the vaccination record and susceptibility to preventable infections.
Nutrition:
Assess dietary patterns, allergies, food access, eating behaviors, pica, and body mass index; nutritional status directly affects fetal growth and development.
Family history:
Ask about maternal and paternal familial or genetic conditions that could affect the fetus or pregnant patient.
Social and occupational history:
Assess relationship status, housing, education, work exposures, finances, cultural background, anticipated changes, and the available support network.
Mental health:
Screen for depression, anxiety, previous mental illness, stress, trauma, and current emotional functioning; arrange follow-up when indicated.
Violence risk:
Assess current or prior intimate partner violence privately and sensitively.
Review of systems:
Ask about symptoms affecting each body system; clarify onset, location, duration, associated symptoms, aggravating and relieving factors, and attempted treatments.
Physical examination:
Record height, weight, body mass index, vital signs, and blood pressure; complete a head-to-toe assessment and pelvic examination as indicated.
Blood-pressure technique:
Use the same arm at each visit with the patient seated, back and arm supported, and upper arm at right-atrium level. Recheck an elevated reading after rest.
Essential Pregnancy and Gestational-Age Terminology
Gravida:
A woman who is pregnant.
Gravidity:
Pregnancy; when documenting obstetric history, gravida is the total number of pregnancies, including the current pregnancy.
Nulligravida:
Has never been pregnant and is not currently pregnant.
Primigravida:
Pregnant for the first time.
Multigravida:
Has had two or more pregnancies.
Parity:
Number of pregnancies reaching at least 20 weeks of gestation. Count pregnancies, not fetuses; a twin pregnancy counts as one pregnancy. Whether the fetus is born alive or stillborn does not change parity.
Nullipara:
Has not completed a pregnancy reaching at least 20 weeks.
Primipara:
Has completed one pregnancy reaching at least 20 weeks.
Multipara:
Has completed two or more pregnancies reaching at least 20 weeks.
Essential Pregnancy and Gestational-Age Terminology - Gestational-age classifications
Preterm:
20 weeks 0 days through 36 weeks 6 days; the pregnancy ends before 37 weeks 0 days.
Late preterm:
34 weeks 0 days through 36 weeks 6 days.
Early term:
37 weeks 0 days through 38 weeks 6 days.
Full term:
39 weeks 0 days through 40 weeks 6 days.
Late term:
41 weeks 0 days through 41 weeks 6 days.
Postterm:
42 weeks 0 days and beyond.
Documenting Obstetric History: G/P and GTPAL - Two-digit G/P system
G — gravida:
Total number of pregnancies, including the current pregnancy.
P — para:
Number of pregnancies reaching 20 weeks of gestation or more
Textbook example:
A patient pregnant for the first time with no pregnancy carried to 20 weeks is G1 P0.
Documenting Obstetric History: G/P and GTPAL - Five-digit GTPAL system
G — gravida:
Total number of pregnancies, including the current pregnancy.
T — term:
Pregnancies ending at 37 weeks 0 days or later, including early-term, full-term, late-term, and postterm births.
P — preterm:
Pregnancies ending between 20 weeks 0 days and 36 weeks 6 days.
A — abortion:
Spontaneous miscarriage or elective/therapeutic termination before 20 weeks, or a birth weight less than 500 g.
L — living:
Number of children currently living.
Textbook example:
Currently pregnant for the second time; the first pregnancy ended in a birth at 35 weeks and that child is alive: G2 T0 P1 A0 L1.
Counting principle:
Term and preterm categories count completed pregnancies; the living category counts living children.
Initial Prenatal Laboratory and Screening Tests
Blood type and Rh status:
Determine ABO type, Rh status, and red-blood-cell antibodies to identify risk of maternal alloimmunization.
Complete blood count:
Assess hemoglobin, hematocrit, and related red-blood-cell measurements to identify anemia.
Infection screening:
Screen for syphilis, hepatitis B, hepatitis C, and HIV. Provide HIV risk-reduction counseling and explain that testing is routine unless the patient declines.
Syphilis terminology:
The textbook’s routine-testing table lists RPR and VDRL; additional confirmatory testing is included as appropriate.
Immunity:
Assess rubella and varicella immunity.
Urinalysis:
Check urine for glucose, protein, nitrites, and leukocytes.
Urine culture:
Screen for asymptomatic bacteriuria; culture and sensitivity can be repeated when clinically necessary.
Chlamydia and gonorrhea:
Screen patients younger than 25 and older patients with risk factors; repeat selected infection testing during the third trimester for high-risk patients.
Cervical screening:
Perform a Pap test when due; cervical or vaginal specimens are obtained when indicated.
Genetic screening discussion:
Discuss available chromosomal-abnormality screening and diagnostic options at the first visit.
Informed participation:
Explain the purpose of recommended tests and give the patient an opportunity to decline testing.
Follow-Up Visits
Follow-up interview:
Ask about physical and emotional changes, new symptoms, questions, family concerns, and events since the previous visit.
Physical assessment:
Review blood pressure, weight changes, edema, and symptoms requiring focused assessment.
Fundal height:
Measure from the symphysis pubis to the uterine fundus
Between approximately 18 and 30 weeks, fundal height in centimeters usually approximates gestational age in weeks within about 2 weeks.
Why it matters:
Unexpected fundal-height changes can prompt additional assessment for inaccurate dating, altered fetal growth, multiple gestation, or abnormal amniotic-fluid volume.
Supine safety:
Avoid prolonged flat positioning when the enlarging uterus can cause supine hypotension; lateral positioning relieves symptoms.
Fetal assessment
Gestational age:
Estimate using pregnancy dating and early ultrasound; incorporate the dates fetal heart tones and quickening were first detected.
Fetal heart tones:
Assess during prenatal visits; detection by ultrasound, Doppler, or fetal stethoscope helps confirm fetal presence and monitor well-being.
Fetal movement:
Ask about the patient’s perception of movement and changes from the usual pattern; decreased or absent movement warrants prompt evaluation.
Ultrasound:
Helps establish gestational age and identify multiple gestation, fetal presentation, growth measurements, placental location, amniotic-fluid volume, and cardiac activity.
Anatomy scan:
Unless earlier evaluation is indicated, a fetal anatomy ultrasound is performed between 18 and 22 weeks.
Follow-Up Visits and Fetal Assessment - Fetal assessment
Gestational age:
Estimate using pregnancy dating and early ultrasound; incorporate the dates fetal heart tones and quickening were first detected.
Fetal heart tones:
Assess during prenatal visits; detection by ultrasound, Doppler, or fetal stethoscope helps confirm fetal presence and monitor well-being.
Fetal movement:
Ask about the patient’s perception of movement and changes from the usual pattern; decreased or absent movement warrants prompt evaluation.
Ultrasound:
Helps establish gestational age and identify multiple gestation, fetal presentation, growth measurements, placental location, amniotic-fluid volume, and cardiac activity.
Anatomy scan:
Unless earlier evaluation is indicated, a fetal anatomy ultrasound is performed between 18 and 22 weeks.
Follow-Up Laboratory Schedule and Genetic Screening
Every visit:
Obtain a clean-catch urine specimen to assess glucose, protein, nitrites, and leukocytes.
As needed:
Repeat urine culture and sensitivity, cervical or vaginal specimens, and blood tests when clinically indicated.
24–28 weeks:
Screen for gestational diabetes. The chapter describes a 1-hour 50-g oral glucose screen followed, when elevated, by a 3-hour 100-g test.
Earlier diabetes testing:
Assess earlier if risk factors include obesity, previous gestational diabetes, or impaired glucose metabolism; if the early test is negative, repeat at 24–28 weeks.
Approximately 28 weeks:
Repeat the antibody screen in an Rh-negative patient and administer anti-D immune globulin when there is no evidence of sensitization.
28–32 weeks:
Repeat hemoglobin and hematocrit; repeat selected infection testing when risk warrants.
36 0/7–37 6/7 weeks:
Obtain vaginal and rectal cultures for group B streptococcus. Earlier cultures do not reliably predict colonization at birth.
GBS testing applies broadly:
Screen even when cesarean birth is planned because labor or membrane rupture may occur first; repeat screening with each pregnancy.
Follow-Up Laboratory Schedule and Genetic Screening - Genetic screening
Offer screening:
Discuss chromosomal-abnormality screening with all pregnant patients; consider age, family and obstetric history, gestational age, fetal number, available testing, and patient preferences.
First- and second-trimester options:
The chapter describes screening for fetal aneuploidy and second-trimester screening for neural-tube or other open defects using maternal serum alpha-fetoprotein and ultrasound.
Abnormal screening results:
Screening identifies risk rather than establishing a diagnosis; elevated-risk findings may lead to diagnostic testing such as chorionic villus sampling or amniocentesis.
Patient Education and Psychosocial Support
Individualize teaching:
Assess previous pregnancy experience, age, education, cultural and spiritual beliefs, health literacy, and preferred learning style; include supportive family when appropriate.
Breastfeeding preparation:
Discuss feeding plans and assess the breasts and nipples for findings that may affect breastfeeding; provide education and support early.
Sexuality:
Encourage discussion of changing sexual concerns and preferences; provide individualized guidance based on symptoms and pregnancy risk.
Expected discomforts:
Explain common changes and appropriate self-management, including nausea, urinary frequency, fatigue, back discomfort, edema, leg cramps, sleep difficulty, and Braxton Hicks contractions.
Psychosocial support:
Assess coping, role adaptation, relationship changes, support systems, mood symptoms, and barriers to continued care.
Medication and herbal safety:
Ask about prescription medications, over-the-counter products, and herbal preparations; advise discussion with the health care professional before use.
Substance exposure:
Assess and counsel regarding tobacco, alcohol, caffeine, and other drugs; provide supportive referral when indicated.
When to seek assessment:
Teach warning signs, whom to contact, and how to obtain urgent evaluation.
Patient Education and Psychosocial Support
Bleeding or severe abdominal pain:
May indicate serious pregnancy complications and requires prompt evaluation.
Persistent severe vomiting:
Can indicate hyperemesis or another condition requiring assessment.
Fever, chills, or burning with urination:
May indicate infection.
Fluid leaking from the vagina:
Can indicate membrane rupture, including premature rupture.
Severe headache, visual disturbance, marked swelling, or epigastric pain:
May indicate a hypertensive disorder or preeclampsia.
Decreased or absent fetal movement:
May indicate impaired fetal well-being and should be reported promptly.
Contractions, pelvic pressure, or cramping before 37 weeks:
Can indicate preterm labor.
Patient Education and Psychosocial Support - Potential warning signs and complications
Bleeding or severe abdominal pain:
May indicate serious pregnancy complications and requires prompt evaluation.
Persistent severe vomiting:
Can indicate hyperemesis or another condition requiring assessment.
Fever, chills, or burning with urination:
May indicate infection.
Fluid leaking from the vagina:
Can indicate membrane rupture, including premature rupture.
Severe headache, visual disturbance, marked swelling, or epigastric pain:
May indicate a hypertensive disorder or preeclampsia.
Decreased or absent fetal movement:
May indicate impaired fetal well-being and should be reported promptly.
Contractions, pelvic pressure, or cramping before 37 weeks:
Can indicate preterm labor.
Rh Immune Globulin
Why Rh incompatibility matters:
An Rh-negative pregnant patient carrying an Rh-positive fetus can develop antibodies against fetal red-blood-cell D antigen, causing fetal red-cell destruction and potentially serious hemolytic disease.
Prevention:
Rh-D immune globulin destroys fetal Rh-positive red blood cells in the maternal circulation before the maternal immune system becomes sensitized.
Routine antenatal administration:
The chapter describes a 300-microgram dose at 26–30 weeks for an unsensitized Rh-negative patient; follow-up testing and prophylaxis are commonly discussed around 28 weeks.
After delivery:
If the infant is Rh-positive, administer another dose within 72 hours after birth.
Other sensitizing events:
Chorionic villus sampling, amniocentesis, spontaneous or therapeutic abortion, ectopic pregnancy, external cephalic version, and abdominal trauma may require prophylaxis.
Maternal Age: Adolescents and Patients Older Than 35 - Adolescent pregnancy
Access to care:
Adolescents are less likely to receive adequate prenatal care; late recognition, denial, uncertainty about available services, and socioeconomic barriers can delay entry.
Potential risks:
Preterm birth, low birth weight, perinatal death, maternal anemia, preeclampsia or HELLP syndrome, postpartum hemorrhage, and infection.
Nursing priorities:
Encourage early and consistent prenatal visits; provide confidential, developmentally appropriate teaching; assess support and safety; and connect the patient with community or social services.
Maternal Age: Adolescents and Patients Older Than 35 - Advanced maternal age
Chapter terminology:
Women older than 35 years are described as being of advanced maternal age.
Potential concerns:
Preexisting hypertension or diabetes, increased genetic risk, miscarriage, ectopic pregnancy, preterm birth, stillbirth, placental complications, cesarean birth, postpartum hemorrhage, low birth weight, and multifetal gestation.
Nursing priorities:
Discuss individualized screening, monitor maternal and fetal well-being, address anxiety, and recognize that many patients still have uncomplicated pregnancies and healthy infants.
Multifetal Pregnancy: Maternal and Fetal Risks
General principle:
The presence of two or more fetuses increases complications; preterm-birth risk rises as the number of fetuses increases.
Multifetal Pregnancy: Maternal and Fetal Risks - Maternal risks
Complications:
Miscarriage, hyperemesis, anemia, gestational hypertension, preeclampsia, postpartum hemorrhage, and maternal death.
Multifetal Pregnancy: Maternal and Fetal Risks - Fetal and neonatal risks
Complications:
Prematurity, intrauterine growth restriction, discordant growth, low or very low birth weight, congenital abnormalities, neonatal death, and cerebral palsy.
Twin-to-twin transfusion:
Placental vascular shunting can leave the donor twin smaller, pale, dehydrated, malnourished, and hypovolemic, while the recipient twin becomes larger and can develop heart failure.
Multifetal Pregnancy: Maternal and Fetal Risks - Nursing management
Closer surveillance:
Prenatal visits and ultrasound, nonstress testing, or fetal-heart-rate monitoring may be more frequent.
Teaching:
Discuss adequate nutrition and weight gain, management of discomforts, signs of preterm labor, and when to contact the obstetric provider.
Family preparation:
Assess finances, space, workload, coping, and realistic infant-care plans; connect the family with support resources.
Birth Settings and Preparation for Labor - Hospitals
Available arrangements:
Hospital care may use traditional labor-and-delivery rooms or labor, delivery, and recovery (LDR) or labor, delivery, recovery, and postpartum (LDRP) rooms.
Clinical significance:
Hospital settings provide fetal monitoring, maternal and newborn resuscitation equipment, and access to higher-level intervention when needed.
Birth Settings and Preparation for Labor - Freestanding birth centers
Appropriate candidates:
Generally serve patients with low-risk pregnancies and are usually staffed by certified midwives with hospital privileges.
Planning:
A homelike environment, birth education, a birth plan, emergency equipment, and an established hospital-transfer process support safe care.
Birth Settings and Preparation for Labor - Home birth
Informed decision-making:
Explain potential benefits and risks. The chapter states that home birth is associated with fewer interventions but increased risk of perinatal death and serious infant neurologic dysfunction.
Professional attendance:
An obstetric physician, certified nurse-midwife, or another appropriately educated and licensed professional midwife should attend.
Safety requirements:
Select low-risk candidates; ensure access to professional consultation and safe, timely transport to a hospital.
Contraindications identified in the chapter:
Fetal malpresentation, multifetal gestation, and previous cesarean birth.
Birth Settings and Preparation for Labor - Managing labor discomfort
Nonpharmacologic approaches:
Relaxation, breathing techniques, imagery and visualization, and biofeedback.
Pharmacologic approaches:
Intravenous medication and epidural analgesia.
Preparation:
Childbirth education helps the patient and support person understand available options and develop preferences before labor.
Pregnancy Providers, Labor Support, and Birth Plans
Physicians:
Prenatal and birth care can involve obstetricians, family medicine physicians, and maternal-fetal medicine specialists according to patient needs and risk.
Midwives:
The chapter identifies certified nurse-midwives, certified professional midwives, and certified midwives as maternity care providers.
Certified nurse-midwife:
A CNM is one of the professional attendants identified for pregnancy and birth care, including appropriately selected planned home birth.
Nurses:
Provide ongoing assessment, education, psychosocial support, coordination, and labor support.
Labor doula:
A trained support person who provides physical, emotional, and informational support during labor and birth but does not perform clinical tasks.
Benefits of continuous labor support:
The chapter associates continuous support with less pain medication or epidural use, shorter labor, greater satisfaction, more spontaneous vaginal births, fewer cesarean or instrument-assisted births, and fewer low 5-minute Apgar scores.
Postpartum doula:
Supports the patient, newborn, and family during the first weeks after birth.
Birth plan:
A flexible list of patient and family preferences used to explore birth options and communicate what matters most. It remains tentative because clinical circumstances can change.
Why Nutrition Before and During Pregnancy Matters
Maternal-fetal significance:
Nutrition influences fetal growth, placental development, maternal health, pregnancy outcome, and potentially the child’s long-term health.
Risks of poor nutritional status:
Inadequate nutrition or inappropriate weight gain increases the risk of low birth weight, fetal growth restriction, and preterm birth.
Preconception care:
Assess weight, height, dietary quality, eating habits, nutritional risk factors, medical conditions, and access to adequate food before pregnancy when possible.
Timing:
The first trimester is critical for embryonic organ development, while accelerated fetal growth during the second and especially third trimesters increases nutrient needs.
Why requirements rise:
Pregnancy supports development of the uterus, placenta, fetus, breasts, and amniotic fluid; maternal blood volume increases approximately 40%–50%, and metabolic rate increases approximately 20%.
Nursing role:
Individualize nutrition counseling, support realistic healthy choices, monitor weight patterns, identify barriers, and refer to a registered dietitian when needed.
Recommended Pregnancy Weight Gain by Prepregnancy BMI
BMI calculation:
Body mass index equals prepregnancy weight in kilograms divided by height in meters squared:
BMI = weight (kg) ÷ height (m)²
Underweight:
BMI below 18.5: Recommended total pregnancy gain: 28–40 lb.
Normal weight:
BMI 18.5–24.9: Recommended total pregnancy gain: 25–35 lb.
Overweight:
BMI 25–29.9: Recommended total pregnancy gain: 15–25 lb.
Obesity:
BMI 30 or greater: Recommended total pregnancy gain: 11–20 lb.
First trimester:
For a singleton pregnancy in a person with normal prepregnancy weight, expected total first-trimester gain is approximately 2–4 lb.
Second and third trimesters:
Underweight and normal-weight patients generally gain approximately 1 lb/week; overweight patients approximately 0.6 lb/week; patients with obesity approximately 0.5 lb/week.
Monitoring:
Establish an individualized weight-gain goal at the first prenatal visit and monitor progress at each subsequent visit.
Inadequate gain:
Increases risk of fetal growth restriction, small-for-gestational-age infants, low birth weight, and preterm birth.
Excessive or sudden gain:
Can contribute to adverse maternal-fetal outcomes; rapid gain exceeding approximately 6.6 lb in a month, especially after 20 weeks, can indicate fluid accumulation associated with preeclampsia.
Avoid restrictive dieting:
Even patients who are overweight or obese require sufficient nutrition and weight gain for the fetus, placenta, maternal tissues, and amniotic fluid; energy restriction can limit essential nutrients.
Energy and Macronutrient Needs During Pregnancy - Calories by trimester
First trimester:
Calorie needs are generally the same as before pregnancy.
Second trimester:
Approximately 340 additional kcal/day above nonpregnant energy needs.
Third trimester:
Approximately 452 additional kcal/day above nonpregnant energy needs.
Individual variation:
Patients who are highly active, underweight, carrying more than one fetus, or gaining inadequately may require additional individualized intake.
Practical teaching:
Pregnancy requires nutrient-dense food choices rather than unrestricted eating or intentional weight loss.
Energy and Macronutrient Needs During Pregnancy - Protein, carbohydrates, fat, and fiber
Protein:
Baseline nonpregnant requirement is approximately 46 g/day; during the second and third trimesters, the chapter recommends approximately 25 g/day more.
Protein functions:
Supports fetal growth; enlargement of the uterus, placenta, and breasts; expansion of maternal blood volume and plasma proteins; and formation of amniotic fluid.
Carbohydrates:
Primary energy source; pregnancy requirement increases to approximately 175 g/day. Emphasize fruits, vegetables, and whole grains instead of highly processed foods.
Fat:
The chapter recommends approximately 20%–35% of daily calories from fat and avoiding trans fats.
DHA:
Supports fetal brain and eye development; the chapter notes many providers recommend approximately 300 mg/day and describes low-mercury seafood as a dietary source.
Fiber:
Pregnancy target is approximately 28 g/day
practical range of 25–35 g/day to help prevent or relieve constipation.
High-protein supplements:
Not recommended because of potential harmful fetal effects; aim to meet needs through an appropriately balanced diet.
Preconception and Pregnancy Folate Requirements
Folate versus folic acid:
Folate is naturally present in foods; folic acid is the form used in supplements and fortified foods.
Why it matters:
Folate supports maternal red-blood-cell formation and rapid fetal/placental cell growth and reduces the risk of neural tube defects such as spina bifida and anencephaly.
Critical timing:
The neural tube begins closing within the first month of gestation, often before pregnancy is recognized, so adequate intake must begin before conception.
Before pregnancy:
All adolescents and women capable of becoming pregnant should take 400 mcg (0.4 mg) folic acid daily and consume dietary folate sources.
During pregnancy:
Recommended folate intake increases to 600 mcg (0.6 mg) daily.
Previous neural tube defect:
A patient with a prior pregnancy affected by a neural tube defect is advised to take 4 mg folic acid daily starting at least 1 month before conception and continuing through the first trimester.
Key teaching:
Taking folic acid only after pregnancy is recognized may miss part of the period when neural tube closure occurs.
Good Dietary Sources of Folate
Fortified foods:
Fortified ready-to-eat breakfast cereals, enriched grain products, breads, pasta, and rice.
Legumes:
Black beans, kidney beans, pinto beans, navy beans, chickpeas, black-eyed peas, and lentils.
Vegetables:
Cooked spinach, asparagus, broccoli, collard greens, mustard greens, and other dark-green leafy vegetables.
Fruit:
Oranges/orange juice, avocado, and papaya.
Other sources:
Wheat germ, eggs, and liver are identified in the chapter.
Practical principle:
Include folate-containing foods regularly while also following the recommended folic-acid supplementation plan.
Good Dietary Sources of Protein
Animal-based sources:
Lean meat, poultry, fish, eggs, milk, yogurt, and cheese.
Plant-based sources: Dried beans, peas, lentils, peanuts/peanut butter, nuts, seeds, whole grains, and soy products.
Practical daily pattern:
The chapter describes approximately three dairy servings plus two servings totaling approximately 5–6 oz of meat, poultry, or fish as supplying most recommended protein; adolescents are advised to have four dairy servings.
Food-guide equivalents:
One ounce of meat, poultry, or fish; one egg; ¼ cup cooked dried beans; 1 tablespoon peanut butter; or ½ ounce nuts/seeds each represents approximately one protein-food ounce equivalent.
Vegetarian intake:
A variety of grains, legumes, nuts, and seeds can supply essential amino acids when the overall diet is well planned.
Nausea-friendly choices:
Some patients tolerate small high-protein meals or snacks; yogurt and nuts are chapter-supported examples of protein-containing foods.
Food safety:
Select lower-mercury fish; the chapter advises avoiding shark, swordfish, king mackerel, and tilefish, and limiting albacore/white tuna to 6 oz/week.
Calcium Requirements and Food Sources
Function:
Supports fetal bone and tooth formation while maintaining maternal bone and tooth mineralization.
Patients younger than 19:
Recommended calcium intake is 1,300 mg/day.
Patients ages 19–50:
Recommended calcium intake is 1,000 mg/day.
Pregnancy distinction:
Calcium recommendations do not increase above the usual age-specific nonpregnant requirements, although adequate intake remains essential.
Dairy sources:
Milk, yogurt, and cheese are especially rich sources.
Nondairy sources:
Calcium-fortified orange juice or other beverages; calcium-set tofu; sardines or canned salmon eaten with bones; collard greens, kale, turnip greens, and baked beans.
Lactose intolerance:
Yogurt, cheese, acidophilus milk, buttermilk, lactase-treated milk, or lactase supplements may improve tolerance; assess other calcium sources when milk is avoided.
Supplements:
A calcium supplement may be appropriate when dietary intake remains inadequate and is recommended by the health care provider.
Safety:
The chapter cautions that bone-meal calcium products may contain lead; discuss safe calcium supplements with the health care provider.
Iron Requirements, Dietary Sources, and Supplement Teaching
Function:
Iron supports expansion of the maternal red-blood-cell mass and transfer/storage of iron for the developing fetus.
Pregnancy requirement: chapter discrepancy:
The narrative identifies 27 mg/day, while Table 9.1 lists 30 mg/day. Both figures appear in the supplied chapter; follow the prescribed prenatal supplement plan and the course’s preferred reference.
Animal sources:
Meat, liver, and other heme-iron-containing animal foods.
Plant and fortified sources:
Whole-grain or enriched breads and cereals, dark-green leafy vegetables, legumes, and dried fruits.
Improve absorption:
Take iron with vitamin-C-containing foods such as citrus fruit, tomatoes, melons, or strawberries; meat-derived heme iron also improves absorption.
Reduce absorption interference:
Avoid taking iron at the same time as bran, tea, coffee, milk, egg yolk, spinach, or Swiss chard.
Administration:
Iron is best absorbed on an empty stomach between meals; taking it at bedtime may help when abdominal discomfort occurs.
Expected effects:
Stools may become black or dark green; constipation is common and may improve with adequate fiber and fluids.
Missed dose and safety:
Take a missed dose according to the chapter’s timing instructions without doubling doses; store iron in a childproof container away from children.
Nausea considerations:
Supplements may be difficult to tolerate during the first trimester; timing changes should be discussed with the health care provider.
Additional Vitamins, Fluids, and Balanced Food Choices
Vitamin B6:
Pregnancy requirement is approximately 1.9 mg/day; vitamin B6 supports nutrient metabolism and may be prescribed in larger therapeutic doses for pregnancy-related nausea.
Vitamin B12:
Pregnancy requirement is approximately 2.6 mcg/day; supports red-blood-cell formation and neurologic function. Sources include milk, eggs, meat, and fortified soy milk.
Vitamin C:
Supports tissue formation and enhances iron absorption; sources include citrus fruit, strawberries, melons, broccoli, tomatoes, and peppers.
Vitamin D:
Supports calcium and phosphorus absorption and fetal skeletal mineralization; the chapter identifies fortified milk/cereal and fish such as salmon or tuna.
Fluids:
Aim for approximately 8–12 cups of fluid daily; foods contribute additional water for approximately 3 L total intake daily.
Why hydration matters:
Supports blood volume, nutrient exchange, amniotic fluid, temperature regulation, and regular bowel function; dehydration may increase cramping, contractions, and preterm labor risk.
General food pattern:
Emphasize whole grains, varied vegetables, fruits, low-fat dairy or appropriate alternatives, lean proteins/legumes, and healthier oils.
Sodium:
Routine sodium restriction is not recommended in uncomplicated pregnancy; restriction may be appropriate only when a medical condition specifically warrants it.
Foodborne illness prevention:
Avoid unpasteurized milk and soft cheeses made from unpasteurized milk; reheat hot dogs or deli/luncheon meats until steaming hot.
Caffeine During Pregnancy
Recommended limit:
Keep total caffeine intake below 200 mg/day according to the chapter.
Approximate comparison:
The chapter estimates approximately 100 mg caffeine in one cup of coffee, although intake must include all dietary sources.
Other sources:
Tea, some soft drinks, chocolate, and energy drinks also contain caffeine.
Evidence limitation:
The chapter describes mixed research and notes uncertainty about whether any level is completely risk-free; its practical recommendation remains less than 200 mg/day.
Teaching:
Ask about coffee, tea, soda, chocolate, and energy drinks together rather than assessing coffee intake alone.
Pica and Pregnancy-Related Food Cravings
Definition:
Pica is the consumption of nonfood substances or excessive quantities of low-nutrient substances during pregnancy.
Examples:
Clay, soil, laundry starch, cornstarch, ice or freezer frost, baking powder, raw rice, and flour.
Why it matters:
Pica can displace nutritious foods, interfere with mineral absorption, and expose the patient or fetus to heavy metals or other toxins.
Iron-deficiency association:
Pica is strongly associated with iron deficiency during pregnancy, although the chapter states the exact cause of the association is unclear.
Screening:
Ask about pica at the first prenatal visit, during each trimester, and whenever anemia is present.
Communication:
Use sensitive, nonjudgmental questions about cravings, what substances are eaten, how much is consumed, and how often.
Management:
Assess dietary adequacy and possible iron deficiency, identify dangerous exposures, discuss safer alternatives, and encourage regular meals and nutritious snacks.
Distinguishing ordinary cravings:
eating reasonable amounts of normal foods is usually not harmful, but cravings become concerning when they create nutritional imbalance or involve nonfood substances.
Nutrition Considerations in Adolescent Pregnancy
Why adolescents are at risk:
Many adolescents consume less than the recommended amounts of important nutrients, especially calcium and iron.
Maternal-fetal competition:
a growing adolescent and the fetus may compete for nutrients, contributing to adverse pregnancy outcomes.
Other clinical concerns:
Adolescents and their infants face increased pregnancy, labor, and birth complications; incomplete pelvic growth may contribute to mechanical labor difficulties.
Weight-gain goals:
Use the same adult prepregnancy BMI categories and weight-gain ranges; encourage a goal toward the upper end of the appropriate BMI range.
Avoid calorie restriction:
Provide enough energy and nutrients for both adolescent growth and fetal development; restrictive dieting can reduce essential nutrient intake.
Calcium:
Patients younger than 19 require approximately 1,300 mg/day; the chapter suggests four servings of milk, yogurt, or cheese for adolescents.
Iron and folate:
Assess intake carefully because low iron intake is common and folic acid is essential before conception and early in pregnancy.
Protein:
Assess for inadequate intake and teach practical food choices including dairy, eggs, lean meats, legumes, peanut butter, and nuts.
Nursing education:
Build nutrition knowledge, practical meal planning, food selection, and food preparation skills; promote prenatal care access and identify barriers to meaningful change.
Individualized approach:
Respect the adolescent’s circumstances, resources, preferences, and concerns while reinforcing achievable, nutrient-dense choices.
Postpartum considerations:
Provide guidance on healthy nutrition and physical activity for appropriate postpartum weight management.
Nutrition Teaching for Nausea and Vomiting
Typical timing:
Nausea and vomiting are most common during the first trimester and are usually mild to moderate, although symptoms can interfere with adequate intake.
Dry starchy foods:
Eat dry toast, melba toast, or crackers upon awakening and at other times when nausea occurs.
Small, frequent meals:
Eat small portions every 2–3 hours; avoid large meals and do not skip meals or become excessively hungry.
Bedtime snack:
Try cereal with milk, a small sandwich, or yogurt before bedtime.
Other tolerated carbohydrates:
Toast, rice, and potatoes may be easier to tolerate than fried or fatty foods.
Protein:
Some patients find small high-protein meals or snacks helpful; yogurt and nuts are chapter-supported protein foods.
Fluids:
Avoid excessive fluid intake early in the day or during active nausea, but compensate by drinking enough fluids at other times.
Reduce triggers:
Limit fried/fatty foods, spicy foods, strong cooking odors, and sudden movements; choose cool foods with little aroma and get out of bed slowly.
Ginger:
The chapter suggests ginger ale, candied ginger, fresh ginger in tea, or ginger boiled in water.
Herbal teas: Raspberry-leaf or peppermint tea may reduce nausea according to the chapter.
Vitamin B6:
Vitamin B6 alone or a prescribed combination of vitamin B6 and doxylamine may be recommended by the health care provider.
Other measures:
Fresh air, a well-ventilated environment, avoiding tooth brushing immediately after meals, and motion-sickness wristbands may help.
When symptoms are concerning:
Severe persistent vomiting with weight loss, dehydration, or electrolyte abnormalities suggests hyperemesis gravidarum and requires further evaluation.
Nutrition Teaching for Constipation
Why fiber helps:
Dietary fiber creates bulkier stool, stimulating intestinal peristalsis and supporting more regular bowel movements.
Daily fiber goal:
28 g/day during pregnancy.
Food sources:
Bran
whole-wheat products
whole grains
popcorn
raw or lightly steamed vegetables
fruits
nuts
seeds
Increase fluids:
Adequate water and other appropriate fluids hydrate the fiber and increase stool bulk
8–12 cups of fluids daily
Physical activity:
Walking, swimming, and water aerobics can stimulate bowel motility when appropriate for the patient.
Iron-related constipation:
Iron supplements commonly worsen constipation
reinforce fiber and fluid intake while following the prescribed iron regimen.
Nutrition Teaching for Heartburn
Meal size:
Choose small, frequent meals rather than two or three large meals that distend the stomach.
Separate food and fluids:
Avoid consuming large amounts of fluid with meals; drink adequate fluids between meals instead.
Food triggers:
Avoid spicy foods when they worsen symptoms.
Positioning:
Do not lie down immediately after eating because this can worsen reflux.
Clothing:
Avoid garments that fit tightly across the abdomen.
Teaching principle:
Maintain adequate nutrition and hydration while modifying meal size, food triggers, fluid timing, and positioning.
Assessment and Classification of Pregnancy Risk
High-risk pregnancy:
pregnancy with factors increasing likelihood of undesirable maternal or fetal outcome
Risk factors can overlap and have cumulative effects
Assessment and Classification of Pregnancy Risk - Biophysical risks
Definition:
Factors that affect development or functioning of mom/fetus
Examples:
Genetic or chromosomal conditions
congenital anomalies
multiple gestation
nutritional problems
chronic disease
current or previous obstetric complications
maternal-fetal blood incompatibility
Assessment and Classification of Pregnancy Risk - Psychosocial risks
Definition:
Maternal behaviors and adverse life events that negatively affect maternal or fetal health
Examples:
Drugs
drink
emotional distress
Depression
intimate partner violence
family conflict
unsafe cultural practices
Assessment and Classification of Pregnancy Risk - Sociodemographic risks
Definition:
Risks arising from the social and demographic circumstances
Examples:
Low income
inadequate prenatal care
transportation or access barriers
very young or older maternal age
relationship circumstances
rural residence
structural racism affecting racial or ethnic minorities
Important distinction:
These risks concern the family’s living conditions and access to resources
are not simply factors that arise from the mother and baby themselves
Assessment and Classification of Pregnancy Risk - Environmental risks
Definition:
Hazards exposure that may affect fertility, pregnancy, fetal development, or later child development
Examples:
Chemical, pollutant exposure
Paternal exposure:
Workplace exposure to mutagenic agents may increase miscarriage risk
Antepartum Surveillance: Purpose and Indications
Primary goals:
Identify fetuses with impaired acute or chronic oxygenation before permanent injury or death occurs
identifying adequately oxygenated fetuses to avoid unnecessary intervention
Common indications:
DM
HTN
Preeclampsia
systemic lupus erythematosus
renal disease,
cyanotic heart disease
fetal growth restriction
Oligohydramnios
late-term or postterm pregnancy
previous stillbirth
decreased fetal movement
Usual timing:
Testing often begins around 32–34 weeks and continues once or twice weekly
earlier testing if multiple high-risk conditions present
Interpretation:
No single result should be interpreted in isolation
Incorporate:
gestational age
maternal conditions
fetal findings
overall clinical picture
Daily Fetal Movement Count
What it measures:
Maternal perception of fetal activity
AKA:
kick count
daily fetal movement count
Why it matters:
decreased movement can occur with fetal hypoxemia
may indicate the need for further assessment
Advantages:
Noninvasive
Inexpensive
Simple
performed at home
Different counting approaches:
count once daily for an hour
counting 2-3 times daily for up to 2 hours or until 10 movements occur
recording movement during a 12-hour period until at least 10 movements are counted
Concerning pattern:
A decrease from pts usual fetal-movement pattern warrants contacting the health care provide
No movement for 12 hours is described as a fetal alarm signal
Expected follow-up:
A nonstress test is commonly performed when decreased fetal activity is reported
Factors affecting perceived movement:
Fetal sleep cycles
CNS depressants
Alcohol
Smoking
maternal obesity
can reduce movement or its perception
Safety point:
Fetal movements don’t normally decrease simply because pregnancy is nearing term
Nursing teaching:
Explain why movement matters
demonstrate the chosen counting method
explain how to document results
identify when to call provider
Ultrasonography and Three-Dimensional Imaging
What it is:
noninvasive imaging method
uses returning sound-wave echoes to evaluate:
Pregnancy
Fetus
Placenta
amniotic fluid
Approaches:
Transvaginal ultrasound provides close visualization of early pregnancy and pelvic structures
abdominal ultrasound evaluates fetus and other structures through mom’s abdomen
Major uses:
estimate gestational age
identify multiple fetuses
assess anatomy
Growth
placental location
amniotic fluid
Presentation
fetal well-being
Guide for invasive procedures
Ultrasonography and Three-Dimensional Imaging - Types of ultrasound
Two-dimensional ultrasound:
The standard medical scan
produces a flat image displaying length and width in black, white, and shades of gray.
Three-dimensional ultrasound:
Sound waves are obtained at different angles
then processed to add depth
Image may help evaluate anomalies and plan neonatal care
Four-dimensional ultrasound:
Adds time to 2D imaging
displaying successive images as fetal movement
Medical-use principle:
should be performed by qualified professionals
Fetal Biometry: Head and Abdominal Circumference
First trimester:
Crown–rump length provides most accurate early ultrasound estimate of gestational age
After the first trimester:
Common measurements include:
biparietal diameter
head circumference
abdominal circumference
femur length
Purpose:
Combining measurements:
improves gestational-age estimation
supports assessment of fetal growth
Serial measurements:
Repeated evaluation helps distinguish inaccurate pregnancy dating from intrauterine growth restriction or macrosomia.
Symmetric growth restriction:
The fetus is small in all measured parameters
suggesting chronic or long-standing condition, such as:
genetic abnormality
intrauterine infection
maternal undernutrition
heavy smoking
Asymmetric growth restriction:
Head and body growth do not match
suggests later-developing problem
placental insufficiency associated with HTN
renal disease
cardiovascular disease
Clinical importance:
Reduced growth is associated with stillbirth
excessive fetal size can increase traumatic injury and asphyxia during birth
Nuchal Translucency Screening
What it is:
Ultrasound measurement of fluid at the back of the fetal neck.
Timing:
Performed between 10 and 14 weeks of gestation.
Abnormal finding:
A fluid collection greater than 3 mm is considered abnormal in the chapter.
What it suggests:
increased measurement can signal greater risk of chromosomal abnormalities
trisomies 13, 18, and 21
may also be associated with other fetal anomalies
Combined screening:
Interpret nuchal translucency with maternal serum markers
such as:
pregnancy-associated plasma protein A
human chorionic gonadotropin
Key limitation:
Nuchal translucency is a screening finding, not a definitive diagnosis
abnormal results may lead to counseling and diagnostic testing.
Umbilical-Cord and Fetal Doppler Studies
What Doppler evaluates:
Blood flow through maternal, placental, and fetal vessels using ultrasound
systolic/diastolic ratios/resistance data help assess circulation
Common vessels:
Fetal umbilical artery
fetal middle cerebral artery
and maternal uterine arteries
Umbilical artery findings:
Absent or reversed flow during diastole indicates severely restricted umbilical blood flow
is associated with fetal growth restriction
Middle cerebral artery:
Increased peak systolic velocity can predict moderate to severe fetal anemia
Maternal uterine arteries:
Abnormal waveforms can help predict fetal growth restriction
Clinical significance:
Doppler studies help evaluate fetal adaptation and reserve
particularly when growth restriction or impaired uteroplacental circulation is suspected
Amniotic Fluid Volume and the Biophysical Profile
Amniotic fluid assessment
Deepest vertical pocket:
maximum vertical pocket < 2cm supports oligohydramnios
pocket > 8 cm supports polyhydramnios.
Amniotic fluid index:
Add deepest measurable fluid pocket in each of four uterine quadrants
< 5cm indicates oligohydramnios
(+)25cm indicates polyhydramnios
Why fluid matters:
Amniotic fluid reflects placental function over a longer period
may reveal:
fetal anomalies
ruptured membranes
growth restrictions
Amniotic Fluid Volume and the Biophysical Profile - Complete biophysical profile
Complete biophysical profile
What it is:
noninvasive assessment evaluating both current fetal status and longer-term placental function
combines ultrasound findings & NST
Five components:
Fetal breathing movements
gross fetal movements
fetal tone
amniotic fluid volume
NST reactivity
Scoring:
Each component receives 2 points when criteria are met
Or 0 points when absent or abnormal
Max score is 10
Breathing criterion:
At least 1 sustained episode of fetal breathing, lasting 30sec during 30min obs
2 points
Movement criterion:
At least 3 fetal trunk or limb movements in 30min
2 points.
Tone criterion:
At least 1episode of active extension with return to flexion, or opening and closing of a hand
2 points
Fluid criterion:
adequate deepest vertical pocket is 2 points
pocket of 2 cm or less is 0 points
NST criterion:
A reactive NST receives 2 points
a nonreactive NST receives 0 points
Interpretation:
8 - 10 with normal amniotic fluid → reassuring
6 → concerning
4 or less →
raises concern for chronic fetal compromise
requires further evaluation or possible delivery
Amniotic Fluid Volume and the Biophysical Profile - Modified biophysical profile
Components:
Combines:
NST
measurement of single deepest vertical amniotic-fluid pocket
Desired result:
reactive NST & amniotic-fluid pocket > 2cm
Why use it:
Reduces testing time
evaluates both current fetal condition and longer-term placental function
Magnetic Resonance Imaging (MRI)
What it is:
provides detailed soft-tissue images w/o ionizing radiation
What it evaluates:
Fetal CNS
Thorax
Abdomen
GU tract
musculoskeletal structure
overall growth
Placenta
amniotic fluid
Uterus
Cervix
maternal pelvic structures
Advantages:
Produces images in multiple planes w/o interference, from:
Bone
Fat
Gas
does not require a full bladder to image deep pelvic structures
Procedure:
one hip may be elevated to reduce effects of supine positioning
Imaging commonly lasts 20–60min
Limitations:
Fetal movement can blur anatomic detail
maternal sedation is reserved for selected situations in which detailed visualization is essential