Prenatal Care Flashcards
When is genetic testing done during prenatal care
before conception
What is a screening
identification of an asymptomatic disease, harmful condition or risk factor
What is the difference between a prenatal screening and a diagnostic test
Screenings give a probability
Diagnostic gives a definitive
What are some fetal diagnostic tests
chorionic villus sampling
amniocentesis
What do fetal diagnostic tests show us
detects all trisomies, chromosomal abnormalities, several hundred mendelian abnormalities
When is chorionic villus sampling preformed and what is it
between 10-13 weeks gestation
Bx of placental tissue
How is a chorionic villus sampling preformed
transabdominal approach preferred (less risk and higher yield)
When can an amniocentesis be preformed
> 15weeks gestation
Who should be offered an amniocentesis
All pregnant women but especially those >35 due to higher risk for abnormalities
What is percutaneous umbilical blood sampling
Fetal blood samples via percutaneous puncture of umbilical cord vein under US guidance
*generally in 3rd trimester if new abnormality is found
What is preimplantation genetic testing (PGT)
Prior to IVF implantation, polar bodies for oocytes, blastomeres from 6-8 embryos or trophectoderm sample from blastocytes are sampled
How many types of PGT are there and what do they test for
PGT-M: Risk of certain mendelian disorders
PGT-A / PGT-SR: Chromosomal abnormalities
PGT-A: primarily for embryos from older women
What is aneuploidy testing
Tests for additions or deletions from chromosomes (trisomy 21)
What are the genetic screening catagories
Carrier screening
Aneuploidy screening
Neural tube defects
What is the main risk factor for genetic disease
Advanced maternal age >35y/o
What is commonly screened for in pregnancy
CF
Hemoglobinopathies
neural tube defects
Trisomy 13,18, 21
Spinal muscle atrophy
Tay-sachs
Which ethnicity is at greatest risk for tay-sachs disease
Ashkenazi Jews
What is trisomy 18
Edwards syndrome
What is trisomy 13
Patau syndrome
What genetic mutations causes CF
CFTR mutation
What is a common hemoglobinopathy
thalassemia and sickle cell
When is father tested for genetic abnormalities
Only if the mother is positive
What tests are used for checking for neural tube defects
Maternal serum alpha fetoprotein
*elevated at 16-18 weeks
Transvaginal ultrasound (TVUS)
What is the test of choice with increased risk of neural tube defects
Transvaginal ultrasound
*screening & diagnostic
Which women should have aneuploidy testing
all women regardless of age
What is spinal muscular atrophy
Degeneration of anterior horn cells in spinal cord and motor nuclei in lower brainstem