Exam 3 Flashcards
most common reason for doing prenatal testing is
advanced maternal age (35 years or older)
advanced paternal age is more than
55 years
after that there is an increase in certain chromosomal abnormalities
Reasons for prenatal testing (7)
- Maternal age > 35 years
- Birth of previous infant with chromosomal abnormalities or neural tube defect
- Chromosomal abnormality in family member
- Gender if mom is carrier of X-linked disorder
- Pregnancy after 3 or more spontaneous abortions
- Maternal Rh sensitization
- Elevated levels of maternal serum AFP
the point of genetic counseling is to
help the family make some decisions and prepare them for the potential effects that may present in their baby
it’s quite common for down syndrome babies to also have
cardiac anomalies
multifactorial disorders
more than 1 gene is involved
also, environmental factors or sex of child may affect if it is expressed
Cardiac anomalies
Cleft lip and palate
Neural tube defects
Teratogens
any factor that adversely affects the fertilized ovum, embryo, or fetus
Causative agents
Maternal infectious agents Drugs, Rubella and Vaccine Pollutants Ionizing radiation Maternal hyperthermia Maternal co-morbidities
1 factor that influences the teratogen’s effect on the pregnancy
maternal genome and fetal genotype
Top 3 factors that influences the teratogen’s effect on the pregnancy
- maternal genome and fetal genotype
- stage of development when exposure occurs
- dose and duration of the exposure of the agent
___ mcg of folic acid daily before conception is recommended to prevent ____
400
neural tube defects
Women with epilepsy may be treated wth ___, which is a known tetratogen
Dilantin
CVS, PUBS, and Amniocentesis are done at what times?
CVS: towards the end of the first trimester (10-13 wks)
A: Between 15 and 20 weeks
PUBS: after 16 wks - not until the woman is definitely into the second trimester
Ultrasound can be done when?
anytime during the pregnancy
In the third trimester, how can fetal wellbeing be assessed?
Nonstress Test
Biophysical Profile
What is Amniocentesis and when is it done?
- Invasive test to identify chromosomal or biochemical abnormalities
- done Between 15 and 20 weeks
- there is a Risk of spontaneous abortion infection, ruptured membranes
Why would Amniocentesis be done in the 3rd trimester (after 28 weeks)?
to assess:
- Fetal lung maturity
- Detects fetal hydrous and erythroblastosis fetalis
CVS stands for what? What is it and when is it done? What are some risks?
Chorionic Villus Sampling
10-13 wks
Karyotyping to identify chromosomal abnormalities
Results in 48 hrs
Risks: 0.5% to 2.0% chance of spontaneous abortion and limb abnormalities
PUBS stands for what? What is it and when is it done? What are some risks?
Percutaneous Umbilical Blood Sampling
after 16 wks
Blood gas, CBC, coag, Rh
Results in hrs
Risks: cord laceration, thromboembolic, infection, spontaneous ab, PROM (premature rupture of membranes)
PTO, PROM
pre-term labor
premature rupture of membranes
Women who have a high risk factor will start having NSTs at about
30-32 weeks gestation
What is the optimal type of NST?
- At least 2 FHR acceleration within 20 minute period
- At least 15 beats above baseline
- Lasting at least 15 seconds
baby is awake/moving around
What is an NST and what is the purpose? When is it done?
Assess fetal well-being – uteroplacental function
Noninvasive
After 28 wks
Accelerations in FHR read during NST are indicative of
- Adequate O2 of CNS
- Healthy neural pathway from fetal CNS to FH
- Ability of FH to respond to stimuli