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Q. Do my wife's NT scan and double marker test results show a high risk for Down's syndrome?

Answered by
Dr. Deepti Verma
and medically reviewed by iCliniq medical review team.
This is a premium question & answer published on Jul 24, 2017 and last reviewed on: Oct 09, 2018

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 IU/L, 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.

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#

Hi,

Welcome to icliniq.com.

I have read your question and understand the concerns.

  • The report is showing a high risk for trisomy 21 or 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.

For more information consult an obstetrician and gynaecologist online --> https://icliniq.com./ask-a-doctor-online/obstetrician-and-gynaecologist

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.

For more information consult an obstetrician and gynaecologist online --> https://icliniq.com./ask-a-doctor-online/obstetrician-and-gynaecologist


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