Nipt says girl, but ultrasound says boy!

[W232323]

Hi! Just wanted to get an opinion from this community, i recently got an NIPT test that says my baby has a high chance of Turner's Syndrome(which 99% affects only girls, with a mortality rate of 99% during the 1st trimester). So i went to get a second opinion from another ObGyn, the ultrasound looks like a boy!

Please chime inon whether based from your experiences, this ultrasound result is that of a boy's or a girl's.

Many thanks!

Hi! Could be that the sample extraction was a bit too early at 11 weeks, and the fetal fraction was on the lower end of the spectrum at 7%, so there wasnt enough of the baby's DNA/placenta in the bloodstream. I heard that this was quite common. Hope this helps!

11 weeks doesn’t sound too early to NIPT to be accurate. But 99% isn’t 100% so you could still be having a boy.

But at the same time 99% of Turner’s syndrome are girls isn’t 100% and you could have a boy with Turner’s.

It is natural to cling onto any hope but you really are going to have to wait until the amnio to get definite answers, one way or the other.

@W232323 in U.K. it's always been the harmony is 100% that's why I am confused

Tho obv nift isn't harmony but similar

I don’t think it’s common but it did happen to a work colleague of mine that she was told girl from NIPT at 10 weeks, 20 week scan showed obviously a boy and she did indeed have a healthy baby boy! Something about enough fetal DNA to get a result but not enough to get the read on the Y chromosome. Rare though, in that her OB hadn’t seen it before despite doing dozens of NIPTs every month. But certainly possible. Best of luck for your retest and amnio.

We had an NIPT and it identified that the foetus was a girl but with a very high chance (66%) of Triple X syndrome (XXX instead of XX) so not the same but also a sex based chromosomal issue (more common and less affecting than Turner syndrome)

We worried through the whole pregnancy and when our Daughter arrived we had a full karyotype carried out on her and the umbilical cord blood and it was negative! We still don't have an explanation of why it was picked up but on reading into this it appears that the NIPT back then was not all that accurate for these types of chromosomal issues.

Hoping you get good news this week.

Bloody hell!

Why comment if you don't understand at all what the OP is trying to say? Could you've not read other replies before jumping at the OP?

Hi. No direct thoughts on the scan, but just wanted to add that one of my best friends has Turners. She's 70 now, and has had a rich and varied life. It hasn't all been easy but she's an intelligent, warm and interesting person with a wide range of friends and a busy life. I'm no expert but do dm me if it would help.

No and clearly didn't read the OP properly either

Can you do a Harmony test?

@Sillybillypoopoomummy Nipt and harmony are the same test, just called differently in different countries.

I’m sorry op, but I would rely on a genetic test much more than on ultrasound. I’ve had the test done about 6 years ago and they did check with ultrasound first to see if the baby looked big enough to do the test. I think it can be done from 10 weeks on.

I only have experience of this in UK but I would trust the results done here and would use amnio to confirm. From what I read about the Nipt test 6 years ago, the test is very accurate. There are some rare conditions like mosaicism where it can lead to false results, but I think that’s an unlikely outcome. I’m really sorry op, but I would prepare for bad news from the amino.

Fingers crossed for good news, OP!

The harmony is a NIPT test - harmony is a brand name for it. NIPT means non-invasive prenatal testing ☺️

Turner’s syndrome is 45, X0 kariotype. That’s why the OP is asking if the baby could be a boy because boys are 46, XY.
Getting back to school might be a better investment of time than crusading online.

OP I've been thinking of your family and hoping that test results come back soon and that your little baby is healthy

Really hope your baby is ok 🤞🤞🤞

Ask if you can use a usa clinic? My NIPT was done outside of the UK but they send them to the USA. Mine was at 11 weeks and my ob told me they were highly reliable. It was correct on sex.

Wish you the best OP x

Hi all! Update, just had the amnio yesterday, even the doctor performing the amnio was confused, because the scan during clearly showed a boy. We had 3 different doctors check scan on 3 different occasions, and all said baby is a boy. So hopefully, the mosaicism was contained in the placenta, and the baby is fine. This is the best scenario we can hope for.

Excellent @W232323 all the best to you and your baby boy xx

Hi All, quick update. We got the QF-PCR result just today, and the results were of a normal male karyotype. So i guess the NIPT was in fact a false positive, and what happened was a confined placental mosaicism. Since the fetus is a normal baby boy. I guess we were one of the lucky ones. Thank you all for the support and prayers! Couldn't have done it without you.

I will update later on after we get the amnio results back. Cheers!

Wow what fab news!!!

How is your wife? You've both been on a bit of an emotional roller-coaster haven't you.

Brilliant news.

What a lovely update. Here’s hoping you both now have a worry free few months until you welcome your new son.

Brilliant news, congratulations.

Wow congratulations to you and your wife. Best wishes for your little family 🥰