Missed NT scan, Down syndrome positive 5th month scan normal..need amniocentesis?

[AmConfusedABit]

Hi
We missed NT scan for my wife as she was taking care of her sick old mother during the third month. Then we were asked to do normal Doppler and down syndrome triple marker. Trisomy21, 18 both came positive. Doctors asked us to wait for 5th month sca. The resukts of 5th no th scan are all ok structurally. The doctors now say that amniocentesis or NIPT test only will reveal any abnormalities. Can we rely on these tests? How far they are true. Has anyone given birth to normal children despite positive result from NIPT or Amniocentesis too. Please advise.

[RockRose]

ConfusedABit,  this is worrisome,  for sure.  NIPT is somewhere between 80 to 90 per cent accurate for Downs or other chromosomal abnormalities.  This is something for you to talk to your doctor about - there are risks that come with undergoing an amnio,  and since the scan looks normal,  you have some decisions to make.  

It's certainly heartening that the 5th month scan looks good.

Best wishes.

[AmConfusedABit]

Hi RockRose,
thanks for the reply. We had the 5th to 8th month scans till now. Doctors say that there are not soft markers in the scan. So they have given us confidence that the baby will be normal as we were not ready for the NIPT tests. We are in 8th month now. Dec 22 is the due for delivery. Will keep you posted after that. Thanks again for the reponse.

Regards.

[Loopy_liesha]

What was the outcome?

[specialmom]

Hi there Loopy_liesha.  Have you had a triggered test of some sort making you worry?  My sister was in the same boat as the poster and she had a baby that did not have the issues worried about.  Give us more specifics about you though and we'll try to help!