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OBG · Medical disorders in pregnancy: haemoglobinopathy
Sample itemBoth partners are carriers of beta thalassaemia trait. At what stage and by what method can prenatal diagnosis be done earliest?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. CVS at 10 to 13 weeks with DNA analysis
Prenatal diagnosis of beta thalassaemia major is by DNA mutation analysis on chorionic villus tissue at 10 to 13 weeks. This allows early termination under the MTP Act if the fetus is affected. HPLC screening is used to detect carriers early in pregnancy.
Option by option
A. Maternal serum AFP
AFP is not related.
B. Anomaly scan at 20 weeks
Ultrasound cannot diagnose thalassaemia early.
C. Amniocentesis at 30 weeks
Amniocentesis at 30 weeks is too late.
D. CVS at 10 to 13 weeks with DNA analysis (correct)
Correct. CVS gives early molecular diagnosis.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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