Prenatal Detection of SCA (6 MCQs) 04/12/24

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1) A 34-year-old woman undergoes non-invasive prenatal testing (NIPT). The results suggest a high likelihood of 45, X. What is the next best step to confirm the diagnosis? *

1 point

a. Ultrasound for nuchal translucency

b. Amniocentesis

c. Maternal serum alpha-fetoprotein (MSAFP)

d. Quadruple screen

e. Repeat NIPT

2) Which prenatal finding is most suggestive of Turner syndrome (45, X) during ultrasound? *

1 point

a. Ventriculomegaly

b. Cystic hygroma

c. Omphalocele

d. Polyhydramnios

e. Holoprosencephaly

3) A 28-year-old pregnant woman is screened with NIPT, revealing 47, XXY in the fetus. What condition is this consistent with? *

1 point

a. Turner syndrome

b. Klinefelter syndrome

c. Triple X syndrome

d. XYY syndrome

e. Down syndrome

4) What is the most common method used in prenatal detection of sex chromosome aneuploidies in high-risk pregnancies? *

1 point

a. Fetal MRI

b. Non-invasive prenatal testing (NIPT)

c. Maternal serum screening

d. Chorionic villus sampling (CVS)

e. Detailed anomaly scan

5) A fetus is diagnosed with 47, XXX during prenatal karyotyping. What is the most likely outcome? *

1 point

a. Severe physical deformities

b. Mild developmental delays

c. Intrauterine growth restriction (IUGR)

d. Fetal demise

e. Profound intellectual disability

6) An ultrasound at 20 weeks of gestation reveals coarctation of the aorta and a horseshoe kidney in the fetus. What is the likely karyotype? *

1 point

a. 46, XY

b. 45, X

c. 47, XXX

d. 47, XXY

e. 47, XYY

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