Dr. Deepti Verma
Fetal Medicine
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Patient's Query
Hi doctor,
My wife had NT scan and double marker test at 12 weeks and 3 days of pregnancy. The report is as follows, CRL is 59.2 mm, NT is 1.45 mm, free beta-hCG is 84.84 mIU/mL, equivalent to 2.217 MoM and PAPP-A 0.712 IU/L equivalent to 0.282 MoM. Trisomy 21 is 1: 450 1:47 and trisomy 18 is 1: 5315. I wanted to know about if the risk in the first-trimester screening window is positive.
Hi,
Welcome to icliniq.com.
I have read your question and understand the concerns.
The report is showing a high risk for trisomy 21or Down's syndrome. This first-trimester screening is 95 % sensitive, hence, if the risk is positive, then the amniocentesis should be done to confirm the fetal karyotype. Down's syndrome should definitely be ruled out by amniocentesis before continuing the pregnancy.
Hope you found the answer helpful. Regards.
Patient's Query
Hi doctor,
Thanks for your reply. That means there is a high risk of the baby having Down's syndrome. What are the consequences?
Hi,
Welcome back to icliniq.com.
Yes, there is a high risk of Down's syndrome. A baby with Down's syndrome has mental retardation, growth restriction, and has congenital anomalies in various organs. Therefore, it is always advisable to diagnose it prenatally by amniocentesis and termination of pregnancy, if the karyotype shows Down's syndrome.
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Fetal Medicine
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