How to assess the risk for Down syndrome prenatally?

Question

Hi doctor,

My wife is 37 years old. She is in her 14th week of pregnancy and her trisomy risk ratio has come to 1:6 and her preeclampsia ratio has come to 1:38.

bHCG- 163.66 ng/ml.

Papp A 3020.04PIGF 21.34

Her eFTS (enhanced first-trimester screening) showed nasal bone (NB) present. The crown rump length (CRL) is 66.5. Heart rate 164. Nuchal translucency (NT) 1.6 mm.

Ductus venosus: No "a" wave reversal.

Tricuspid regurgitation: Absent.

Ductus venous pulsatility index 1.18.

Risk estimate nuchal translucency 1 in 1262.NT+NB 1 in 4206.

Please suggest if she should go for further testing for Down's syndrome. If we need a test then can we do NIPT (noninvasive prenatal testing)?

Please help.

Thank you.

Answer 1

Hello,Welcome to icliniq.com.

I read your query and can understand your concern.

Blood test results suggest that she has a high risk for Down's syndrome so there is a chance of 1 case of Down syndrome in six examined cases. It must be evaluated further with non-invasive prenatal testing (NIPT) to know the risk of Down syndrome.

As with age, there is an increased risk of preeclampsia so for that she can take blood thinner till 20 weeks as per guidelines.

So I suggest you go for an NIPT test and then if required, shall go for amniocentesis to confirm Down's syndrome.

I hope I have helped you.

Thank you.