Complete Solutions
When a negative screening test result is obtained (low risk), the patient should simply be told
that they are at a low chance to have a fetus affected with a chromosome abnormality.
False. It is recommended that patient's with both high and low risk results be given the
probability for aneuploidy if it can be estimated.
Name one thing that should be discussed regarding the limitations of aneuploidy screening.
The potential for the fetus to be affected by a genetic disorder or abnormality that is not
evaluated by the screening or diagnostic tests being offered.
Name three topics you should discuss with a patient who learns that their pregnancy is affected
with a chromosome abnormality In the event that a prenatal diagnosis of fetal aneuploidy
is made, the patient must be counseled appropriately so that she can make informed decisions
regarding pregnancy management. Counseling should include:
1. Adoption
2. Pregnancy termination
3. Referral to a tertiary care center for delivery of the newborn if needed
4. Perinatal hospice care as appropriate for a child with a condition that is incompatible with life
,5. Patients found to have a fetus with a chromosomal abnormality often benefit from referral to a
genetics professional for further detailed counseling.
Name three markers that are evaluated in first trimester screening for aneuploidy. This screening
typically is performed when the crown-rump length measures between 38-45 mm and 84 mm
(generally between 10 0/7 weeks and 13 6/7 weeks of gestation) First- trimester screening
includes:
1. Nuchal translucency measurement
2. Free β-hCG or total human chorionic gonadotropin (hCG)
3. Pregnancy-associated plasma protein A analyte levels PAPP A
What maternal factors are used in calculating the chance for a pregnancy to be affected with
aneuploidy with analyte screening. 1. Maternal age
2. Weight
3. Race
4. Number of fetuses.
, There are two methods of classifying nuchal translucency as thickened, what are they? A
nuchal translucency is considered thickened
1. If it measures 3.0 mm - 3.5 mm or more (cutoff is chosen by MFM unit)
2. If it measures in the 99th percentile for the crown-rump length
If there is a thickened nuchal translucency is the pregnancy at an increased chance for pregnancy
complications Yes, the risk of adverse pregnancy outcome is proportional to the degree of
nuchal translucency enlargement.
When is the best time to perform a Quad test in terms of sensitivity for ONTDs (open neural tube
defects)? 16-18 weeks gestation
The quad screen involves the measurement of four maternal serum analytes, what are they?
The quad screen involves the measurement of four maternal serum analytes:
1) hCG
2) alpha fetoprotein (AFP)
3) inhibin A
4) unconjugated estriol