Nurs 371 Exam 2

What are genetics?

study of a specific gene

What are genomics?

study of entire genome

What is a gene?

Basic physical units of inheritance that are passes from parents to offspring and contain info to specify traits

What is a genome?

The entire set of genetic material in an organism

What are epigenetics?

an emerging field of science that studies heritable changes caused by activation and deactivation of genes without any change in the underlying DNA sequence of the organism

What is genomic medicine?

also known as genomic health care is defined as an emerging discipline that involves using genomic information about an individual as part of their clinical care and the health outcomes and political implications of that clinical use

What is precision medicine?

an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person

What is the Human Genome Project?

an attempt to map the entire DNA sequence in the human genome.

What was the key finding of the human genome project?

All human beings are 99.9% identical at the DNA level

What are pharmacogenomics?

study of how genes affect individual drug responses

What is a XX chromosome

female

What is a XY chromosome

male

How many chromosomes does an embryo have?

46. 23 from mom and dad

What is a karotype?

map of chromosomes; shows the sex and defects

What is a euploid cell?

Has the normal number of chromosomes

What is polyploidy?

condition in which an organism has extra sets of chromosomes

What is aneuploidy?

the presence of an abnormal number of chromosomes in a cell

What is the most common type of trisomy?

Trisomy 21 (Down Syndrome)

What is edward syndrome?

Trisomy 18

What is Patau syndrome?

Trisomy 13

What are some common characteristics seen with trisomy 18 (Edward syndrome)

Rocker-bottom feet, cleft lip, cleft palate, and clenched hands with overlapping fingers

What is associated with trisomy 13 (Patau syndrome)?

Microcephaly and capillary hemangiomas

What are some common characteristics seen in individuals with down syndrome?

Nucul folds, semian crease, lower set ears, eyes closer, bridge of nose flat

What is turner syndrome?

Monosomy X female

What is Klinefelter syndrome?

Trisomy XXY male

What does a trisomy XXY male usually experience?

Delay in puberty

What is associated with Klinefelter syndrome?

Infertile, and developmental/speech/intellectual delays

What is fragile X?

low to normal IQ w/ learning disabilities, generalized language disability, short attention span, autism, large head, prominent jaw, large low set ears

What is an example of an X-linked recessive inheritance?

Hemophilia

What are the predisposing genes for colorectal cancer?

APC tumor suppressor gene and mutations in MMR genes

What best describes the pattern of genetic transmission known as autosomal recessive inheritance?

A. Disorders in which the abnormal gene for the trait is expressed even when the other member of the pair is normal

B. Disorders in which both genes of a pair must be abnormal for the disorder to be expressed

C. Disorders in which a single gene controls the particular trait

D. Disorders in which the abnormal gene is carried on the X chromosome

B. Disorders in which both genes of a pair must be abnormal for the disorder to be expressed

A pregnant woman carries a single gene for cystic fibrosis, an inborn error of metabolism. The father of her baby does not carry this gene. Which statement is true regarding the genetic pattern of inborn error of metabolism as it applies to this family?

A.The pregnant woman has cystic fibrosis herself.

B.There is a 50% chance her baby her baby will have the disorder.

C.There is a 25% chance her baby will be a carrier.

D.There is no chance her baby will be affected by the disorder.

D.There is no chance her baby will be affected by the disorder.

A woman has been diagnosed with factor V Leiden (FVL). The nurse caring for this woman should be alert for which problem?

A.Breast Cancer

B.Postpartum hemorrhage

C.Deep vein thrombosis (DVT)

D.Placenta Previa

C.Deep vein thrombosis (DVT)

When does implantation occur?

6-10 days after conception

What are the functions of amniotic fluid?

-Thermoregulation for fetus

-Source of oral fluid / repository for waste

-Assists with fluid/electrolyte homeostasis

-Provides for fetal cushioning, musculoskeletal development

-Antibacterial factors

-Provides for auditory stimulation

What is the normal amount of amniotic fluid?

800-1200 mL

What is oligohydramnios?

too little amniotic fluid (less than 300 mL)

What is polyhydramnios?

too much amniotic fluid (more than 1000 mL)

How many vessels are in the cord?

3: 2 arteries and 1 vein

When is the placenta fully formed?

12 weeks

What 4 hormones does the placenta produce?

-Human chorionic gonodotropin (HcG)

-Human chorionic somatomammotropin (hCS)

-Progesterone

Estriol (one of the main estrogens produced by placenta)

What are the metabolic functions of the placenta?

respiration, nutrition, excretion, storage

What occurs at the 4th week of gestation?

The spinal cord is formed, the head folds forward, the heart develops and begins to beat

What occurs at 8 weeks gestation?

Organogenesis is achieved and completed, arms and legs develop

What occurs at 12 weeks gestation?

Genitals are recognizable, heartbeat detected, sucking thumb/swim/flip

What occurs at 16 weeks gestation?

Urine is present, baby swallows amniotic fluid, determine sex

What occurs at 20 weeks gestation?

Mother can feel movements, hair forms, brown fat distribution, vernix, body becomes C-shaped (21)

What occurs at 24 weeks gestation?

Lung surfactant begins to develop, age of viability, response to sound

What occurs at 28 weeks gestation?

Surfactant demonstrated in amniotic fluid, alveoli start to form

What occurs at 32 weeks gestation?

SubQ fat deposited, fetus responds to sound with movements, sufficient surfactant present for good chance survival

What occurs at 36 weeks gestation?

Deposits of iron, carbs, calcium, and glycogen stores are in the body, GI system complete

What occurs at 40 weeks gestation?

Kicks very actively and hard, fetal hgb converted to adult hgb, vernix formed, fingernails to fingertips, soles of feet have creases

What is the ductus venous?

The umbilical vein brings oxygenated blood through the ductus venosus to the inferior vena cava and right atrium. This closes when blood from the umbilical cord stops.

What is the foramen ovale?

An opening between the right and left atria in the embryo and fetus.

What is the ductus arteriosus?

vessel a growing fetus has that connects the pulmonary artery with the aorta, instead of going to the lungs the blood goes to the body

What are the different types of twins?

Dizygotic (2 eggs) - fraternal twins

Monozygotic (1 egg egg, 2 embryos) - identical twins

Conjoined - monozygotic but cleavage incomplete

When do teratogens have the greatest effect?

during the embryonic period from days 15 to 60

1. What is a major cause for the increase in multiple births in the United States?

a. Women are having their children at younger ages

b. Decreased use of contraceptives

c. Obesity among women

d. Increased use of infertility treatment

d. Increased use of infertility treatment

Why is it important for pregnant women to have folic acid?

To prevent neural tube defects

How much folic acid should a pregnant women intake?

0.4 mg

What is normal weight gain for a pregnant woman with a normal BMI?

25-35 pounds

What is intrauterine growth restriction associated with?

Women with inadequate weight gain during pregnancy

What is obesity preconceptually associated with?

Major congenital defects and gestational diabetes

What are some foods that are rich in folate?

Leafy greens, asparagus, broccoli, papaya & oranges, avocado, seeds and nuts, brussels sprouts, beans, peas, okra, cauliflower, beets, and bell peppers

If a woman is underweight before pregnancy, how much weight should she gain during pregnancy?

28-40 lbs

If a woman is overweight before pregnancy, how much weight should she gain during pregnancy?

20-25 lbs

If a woman is obese before pregnancy, how much weight should she gain during pregnancy?

11-20 lbs

How many calories are recommended in each trimester?

1800 first

2200 second

2400 third

How much protein should be ingested during the 2nd and 3rd trimester?

71 mg

What are omega 3 fatty acids essential for in pregnancy?

Central brain development and neurologic functioning

What types of fish should be avoided during pregnancy?

King mackerel, swordfish, shark, and tile fish

What are the fat soluble vitamins?

A, D, E, K

An excess in which vitamin can cause congenital malformations?

Vitamin A. Found in acne creams and lotions

How much iron do pregnant women need?

27 mg

If a woman is anemic during pregnancy, how much iron should she take?

up to 60-120 mg

How many glasses of fluid are recommended for a pregnant woman?

8-10 (4-6 water)

What is PICA associated with?

iron deficiency anemia

If a pregnant woman is vegan, what vitamin may she be deficient in?

VB12

What is a deficiency in VB12 associated with?

Anemia, cardiac problems, blindness, deafness, and nervous system damage

What is seen with pregnancies after bariatric surgery?

Deficiencies in VB12, iron, calcium, VD, and an inc risk of prematurity and SGA

At what rate should women lose weight after pregnancy?

nonlactating: 0.5 - 0.9 kg per week

Lactating: 1 kg per month

What is the recommended energy intake for the first 6 months PP?

330 kcal more than nonpregnant intake

How many calories should a breastfeeding woman intake?

450 to 500 kcal/day

1. A woman in week 34 of gestation reports that she is very uncomfortable because of heartburn. The nurse suggests that the woman:

a. Substitute other calcium sources for milk in her diet

b. Lie down after each meal

c. Reduce the amount of fiber she consumes

d. Eat five small meals daily

d. Eat five small meals daily

What do estrogen and progesterone do at the end of the menstrual cycle?

Decrease

What is the hypothalamic-pituitary cycle?

The cycle in which estrogen levels influence hypothalamic secretion of gonadotropin-releasing hormone (GnRH) which, in turn, causes the anterior pituitary gland to secrete either FSH to stimulate ovulation, or LH to stimulate expulsion of the ovum from the graafian follicle.

When does luteinizing hormone peak?

day 13 or 14

What are the stages of the ovarian cycle?

follicular phase, ovulation, luteal phase

What are the stages of the endometrial cycle?

menstrual phase (day 1-5)

proliferative phase (5th day to ovulation)

secretory phase (ovulation to 3 days before menses)

Ischemic phase (few days before menstruation)

What do prostaglandins do?

bring about cervical ripening

What are cramps before the period caused by?

prostaglandins

What is the best way to treat cramps?

Naproxen (ibuprofen, aleve) because it blocks the release of prostaglandins

How long does a period have to be absent for for it to be considered menopause?

1 year

What is perimenopause?

stage immediately before menopause where physical changes begin to occur (hot flashes, dryness, irritation, changes in period)

What are the 4 C's of cultural competence?

Call, Cause, Cope, Concerns

When obtaining a reproductive health history from a woman, the nurse should:

a.Limit the time spent on exploration of intimate topics

b. Avoid asking questions that may embarrass the woman

c. Use only accepted medical terminology when referring to body parts and functions

d. Explain the purpose for the questions asked and how the information will be used

d. Explain the purpose for the questions asked and how the information will be used

What is amenorrhea commonly associated with?

Pregnancy

What is primary amenorrhea?

Absence of menstruation by age 15

What is secondary amenorrhea?

no period for 6 months after a period of menstruation

What is hypogonadotropic amenorrhea?

-Problem in central hypothalamic-pituitary axis

-Results from hypothalamic suppression due to stress, sudden weight loss, strenuous exercise, eating disorders, mental illness