Lecture 2.5 Prenatal Diagnosis/Teratogens

Question 1

non-invasive tests are based off of the ____ enviornment. 2 examples?

Answer 1

fetal;

maternal serum, ultrasounds, cell free fetal DNA

Question 2

3 examples of invasive tests?

Answer 2

amniocentesis, chorionic villi sampling, percutanoues umbillical cord sampling (PUBS)

Question 3

first trimester maternal serum findings with down syndrome = ___ PAPP-A, ____ free B-hCG

Answer 3

decreased, increased

Question 4

first trimester screening for edwards (and patau) = ____ beta-HCG, ____ PAPP-A

Answer 4

decreased, decreased

Question 5

down syndrome ultrasound:

____ nuchal translucency due to ____ nuchal ligament. ____ nasal bone

Answer 5

increased;
thickened;

hypoplastic

Question 6

down quad screen (second semester):

____ AFP, ____ beta HCG, ____ estriol (UE3), ____ inhibin A

Answer 6

decreased, increased;

decreased, increased;

Question 7

edwards quad screen ( second semester):

____ AFP, ____ beta-HCG, ____ estriol (UE3), ____ inhibin A

Answer 7

decreased,
decreased,
decreased,
decreased or normal

just think all decreased

Question 8

in general, ___ nuchal translucency has increased risk of problems

Answer 8

increased

regardless of down or nah

Question 9

alpha-fetoprotein:
produced by fetus or mom?
what organ is it produced in?
importantly, it is _____ dependent

Answer 9

fetal liver;

gestational age

Question 10

circulating cell free fetal DNA (ccffDNA):

____ in origin. ____ test for ____ abnormalities

Answer 10

placental (test in mom’s blood);
screening (ie not diagnostic);
chromosomal

Question 11

of the 3 invasive tests, rank in order of completion (ie earliest first):

Answer 11

chorionic villus sampling (10-16 weeks), amniocentesis (10-14 weeks). PUBS (19-21 weeks)

Question 12

of the three invasive tests, which has the highest risk of fetal loss?
lowest?

Answer 12

PUBS;

amniocentesis

Question 13

does amniocentesis look at cells, amniotic fluid, or both?

Answer 13

both

Question 14

of the invasive prenatal diagnostic measures, which as the highest risk of maternal contamination?

Answer 14

CVS

Question 15

2 possible outcomes of teratogen exposure prior to implantation

Answer 15

spontaneous miscarriage;
normal pregnancy

ie all or none

Question 16

teratogens-tobacco:
most common effect is _____;
also SIDS, preterm labor, placental disruption

Answer 16

low birth weight

Question 17

fetal alcohol syndrome:
___cephaly, growth deficiency;
facial infects = smooth ____, thin _____; small _____

Answer 17

micro;
philtrum, vermillion border, palpebral fissures

also limb dislocation, heart defects, holoprosencephaly

Question 18

cocaine causes:

_____, ____ birth, _____, placental ____

Answer 18

low birth weight, premature, IGUR, abruption

Question 19

_____ classically causes limb defects;
____ causes ebstein anomaly;
____ causes bone deformities and fetal hemorrhage

Answer 19

thalidomide;
lithium;
warfarin

Question 20

maternal diabetes:

____ ____ syndrome, ____ ____ defects, heart defects, ___ somia, neonatal _____

Answer 20

caudal regression;
neural tube;
macrosomia;
hypoglycemia