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WorksheetsBiochemical aspects of prenatal diagnosis
Total questions: 8
Worksheet time: 4mins
A 32-year-old pregnant woman undergoes a first-trimester screening at 12 weeks. Her results show low PAPP-A, high free β-hCG, and increased nuchal translucency on ultrasound.
Which chromosomal abnormality is most likely?
Trisomy 13 (Patau syndrome)
Trisomy 21 (Down syndrome)
Trisomy 18 (Edwards syndrome)
Turner syndrome
Type quesA 27-year-old woman has a triple test at 16 weeks of gestation. Results: low AFP, low unconjugated estriol, high hCG.
What is the most likely diagnosis?
A. Neural tube defects
B. Trisomy 18 (Edwards syndrome)
C. Trisomy 21 (Down syndrome)
D. Multiple pregnancy
A 35-year-old woman undergoes a quadruple test at 17 weeks. The results show: low AFP, low estriol, low hCG, low inhibin A.
Which condition is most likely?
A. Down syndrome
B. Edwards syndrome
C. Neural tube defect
D. Turner syndrome
A 25-year-old pregnant woman undergoes a second-trimester screening. Her AFP is markedly elevated.
Which of the following is the most likely explanation?
A. Down syndrome
B. Edwards syndrome
C. Neural tube defect (e.g., spina bifida)
D. Intrauterine growth restriction
A 35-year-old pregnant woman with a previous child affected by a chromosomal disorder requests definitive prenatal diagnosis.
Which of the following is a primary indication for amniocentesis?
A. Advanced maternal age
B. Maternal viral infection
C. Previous miscarriage
D. Maternal hypertension
A 34-year-old woman undergoes amniocentesis at 17 weeks due to advanced maternal age. The fetal karyotype shows 47, XX, +21.
What is the correct interpretation?
A. Normal female karyotype
B. Trisomy 21 (Down syndrome)
C. Trisomy 18 (Edwards syndrome)
D. Turner syndrome
A couple undergoes CVS at 12 weeks because of a family history of chromosomal disorders. The CVS shows 46, XY on karyotyping.
What does this result indicate?
A. Normal male fetus
B. Trisomy 13
C. Trisomy 18
D. Monosomy X
A 26-year-old woman has amniocentesis at 18 weeks for elevated maternal serum AFP. Amniotic fluid AFP is significantly elevated, and acetylcholinesterase is positive.
Which condition is most likely?
A. Down syndrome
B. Edwards syndrome
C. Neural tube defect (spina bifida)
D. Normal pregnancy
