Should we consider NIPT?

[spotts]

Hi all,

My 20 week scan showed heart anomaly. On further scan from specialist they confirmed baby has hole in the heart and the aorta being slightly misplaced to where it normally should be. No other concerns with the aorta however Dr advised this misplacement can be marker for chromosomal abnormalities. We declined amniocentisis. But now I'm worrying over chromosome issue more than hole in heart which can be fixed with surgery around baby being 6 months old.
My combined screening came back as low risk and specialist happy with all other baby measurements.
Any advice welcomed. Unsure whether to go private for Harmony testing.

I am sorry to read your little one has a heart issue. It's really about your peace of mind, the Harmony and other NIPTs are non invasive and will give you a higher accurate risk of some chromosome issues. If it's going to play on your mind then having it may be your option. Best of luck with everything x

Would the result make a difference to anything you do? If yes, then get the tests done. If not, then it may not be worth it. Although even then it might, as it would give you time to adjust to a new reality and to prepare.

If you think it will give you peace of mind do it. If worrying about a chromosomal issue is going to be hanging over you the rest of the pregnancy then its worth doing the test. I did the NIPT after one of my twins came back high risk from the 12 week screening and its the best £400 I have ever spent to get that peace of mind I needed.

My baby did have a chromosome abnormality which was confirmed by amniocentesis after markers were picked up at the 20 week scan. Several severe markers were present at the scan and, sadly, our baby was stillborn. As I said, our markers were multiple and severe and I'm in no way trying to suggest that this is what will happen to you. In my experience of chromosome abnormalities, a diagnosis during pregnancy can be very helpful in terms of preparation and planning for pregnancy, birth and afterwards but often limits treatment and care options. We were very glad that we knew what we were dealing with but that route isn't for everyone. Do you know that harmony is a screening rather than diagnostic tests so gives a likelihood rather than a definitive yes or no? Only an amniocentesis can give you a certain answer. I've had two and am very happy to talk more if you would like to