A 39-year-old woman at 12 weeks of her fourth pregnancy is told that her cell-free DNA screening test reports…

Question

A 39-year-old woman at 12 weeks of her fourth pregnancy is told that her cell-free DNA screening test reports a high chance of trisomy 21. Her nuchal translucency measured 1.6 mm and the ultrasound showed no structural abnormality. She is extremely distressed, says she could not raise a child with a disability and asks you to book a termination for the end of this week. She has no other medical problems. Which one of the following should be arranged next?

Accepted Answer

Offer chorionic villus sampling this week.

Answer

Arrange amniocentesis at 15 weeks.

Answer

Arrange termination of pregnancy this week.

Answer

Refer her to a genetic counsellor.

Answer

Repeat the cell-free DNA test.

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