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conception
fertilization, zygote, morula, traveling to uterus, blastocyst, implantation
fallopian tube
where does fertilization take place
zygote
egg and sperm together makes what
morula
the result of replication (cleavage) and leads to 16 cells
blastocyst
cavity formed in the ball of cells that becomes the amnion
preembyronic
conception to day 14
embryonic
day 15 to eight weeks after conception
fetal
nine weeks until the end of pregnancy
embryonic layers
ectoderm, mesoderm, endoderm
ectoderm
becomes CNS, special senses, skin, and glands
mesoderm
becomes skeletal, urinary, circulatory, and reproductive organs
endoderm
forms respiratory system, liver, pancreas, and digestive system
amniotic fluid
forms in the inner core of blastocyst where fetus develops
umbilical cord
in the middle of the placenta and is the “life line” for the baby
placenta
formed from a trophoblast
amniotic fluid
maintains body temp, source of oral fluid and repository for waste, promotes muscle development, cushions against trauma, weightless state that allows symmetrical development, antibacterial factors in fluid, facilitates normal lung development
polyhydramnios
too much fluid; > 2000mL or 2L
polyhydramnios
leads to GI malformations, cord entanglement, difficulty monitoring FHR, and labor complications
oligohydramnios
too little fluid; < 300mL
oligohydramnios
leads to renal abnormalities, asymmetric growth and development, and cord compression
umbilical cord
has one vein and two arteries, wharton jelly prevents compression, average length is 22 inches and one inch wide, should be central on the placenta
placenta endocrine function
hormones provide direction to mother’s physiology to prioritize supply of nutrients and oxygen needed for fetal growth (respiratory and nutrition)
placenta metabolic function
waste remover (excretory)
placenta circulation function
interface between mom and fetus
red side
maternal side of the placenta
gray side
fetal side of the placenta
placenta endocrine hormones
human chorionic gonadotropin (hCG), human placental lactogen (hPL), progesterone, estrogen
placenta metabolic function
high demand for glucose, fetal metabolic waste products cross placental membrane for excretion by maternal kidneys, one cell layer separates maternal and fetal blood
one cell layer in placenta
separates maternal and fetal blood and breaks occasionally occur in this membrane which can lead to the mixing of maternal and fetal blood which is problematic for Rh- mothers
placental circulation
function is dependent on maternal circulation
teratogens
factors the fetus could be exposed to that can lead to adverse outcomes for the fetus
ductus venosus
liver bypass that connects UV to IVC; liver processes nutrient rich blood
fetal stage circulation
blood travels through three shunts in fetal body; opposite of adult
foramen ovale
RV bypass which is an opening between the right and left atrium to bypass ventricle
ductus anteriosus
lung bypass that connects PA to aorta to bypass pulmonary circulation
fetal respiratory system
surfactant is used to determine fetal lung capacity and the laminar bodies hold the surfactant, L/S ratio is diagnostic marker (2:1)
fetal neurologic system
spinal cord develops from neural tube (ectoderm), chronic poor nutrition, hypoxia, drugs, or environmental toxins can damage CNS, neural tube defects develop from folic acid deficiency
gene
small section of DNA
genetic testing
allows for earlier diagnoses and molecular biology and genomics advancements and allows us to better understand diseases
preimplantation testing
used preconception during IVF to check for genetic or chromosomal abnormalities before implantation
prenatal testing
checks risk or presence of genetic conditions and birth defects in developing fetus
newborn screening
mandatory to detect serious treatable genetic and metabolic disorders before symptoms appear
carrier testing
check to see if disease is carried
diagnostic testing
used to identify, confirm, or rule out medical condition
predictive testing
used to forecast a future outcome, risk, or behavior,
peesymptomatic testing
done on a healthy person to see if they will develop a specific genetic disease later in life
forensic testing
formal scientific testing of physical, biological, or digital evidence to discover facts for legal or criminal cases
nurse role in genetic testing
create pedigree of family hx provided, develop plan of care that incorporates genetic assessment info, assess knowledge, perception, and responses to genetic info, facilitate referrals for specialized genetic services, provide emotional support!!
genetic testing timeline
carrier screening —> transvaginal ultrasound —> NIPT - noninvasive pregnancy testing —> chorionic villus sampling —> amniocentesis —> anatomy scan - transabdominal ultrasound
cfDNA screening
replacing traditional maternal serum screening; simple blood test done during pregnancy to check risk of certain genetic conditions
chromosomal abnormalities
major cause of miscarriage, congenital problems, and gyn disorders
unifactoral inheritance
single-gene disorders have much higher incidence that chromosomal abnormalities
multifactorial inheritance
causes most common congenital malformations
environmental gene mutations
changes genes (ex. UV exposure)
chance gene mutations
normal metabolic processes damage DNA
inherit gene mutations
mutated genes from parents (5-10% of all cancers)
karyotypes
cells from any replicating body tissue can be used except RBCs, nerve cells, and muscle cells; used to provide a pictorial analysis of number, form, and size of chromosomes
monosomies
ex. Turner syndrome
trisomies
most seen; ex. 13, 18, 21
translocations
ex. cri du chat
autosomal dominant
single gene can produce the phenotype
autosomal recessive
two copies of the abnormal gene in a homozygous state are needed to produce the phenotype
x-linked inheritance
associated with altered genes present on the X chromosome and can be either dominant or recessive
multifactorial inheritance
caused by polygenic and environmental factors
autosomal dominant
50% chance there is an affected child with normal mother and affected father
autosomal recessive
25% chance child is affected with two carrier parents
X-linked recessive
typically males are affected and maybe severly
X-linked dominant
50% chance there is an affected child with a normal father and affected mother; males are more likely affected
risk factors
maternal age >35, paternal age >40, >= 2 previous miscarriages, teratogen exposure, consanguinity or incest, family hx genetic conditions, previous child with congenital abnormalities, previous child with developmental or intellectual delays