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!

Sorry you are going through this OP.

I have to say I agree with this. My sister was born with Turners which wasn't pick up through scans (survived full term but sadly died 3 days after birth with severe heart and kidney defects which caused septicaemia).
Turners can cause malformation of the genitalia and which can look more like a boy.. I think for a more definitive answer you need an amniocentesis.

You really didn’t understand, did you?

@W232323 sorry you're having a difficult situation. NIPT screens at a chromosomal level - it tells you if there is any trace of a Y chromosome in your blood. I don't know what the lab error rate might be but in theory this should be significantly more accurate than any other test (99% accuracy for sex).

Turners is a difference of sexual development where you have only one X chromosome instead of two (individuals still have female sexual characteristics, not male). I didn't think it had this 99% chance of miscarriage because it is not an immediately life limiting disorder like some of the trisomies - is your doctor a specialist and absolutely sure about that?

The NIPT should be definitive on sex but it is not definitive at diagnosing Turners. Did they say it was also indicated by features on the ultrasound?

OP I don’t write this to give you false hope, but something to keep you going in the meantime.

I’ve been through something similar. My NIPT gave us as best a 1:2 chance of a healthy baby - we were told to prepare for a severe chromosomal abnormality, the best outcome was likely to have been Downs/Turners. We were told most likely Turners. I prayed and prayed for a baby with Downs because it seemed the best possible outcome.

to cut a long story short, the baby (boy) was born almost 13 years ago, perfectly healthy.

as I say, this isn’t intended to give you false hope but perhaps something to hold on to.

Will be thinking of you and your wife ❤️

edited to add: while I was going through all of this (and it was a difficult pregnancy) I 100% focused on knowing the sex of my baby as it gave me something to focus my thoughts on, allowed me some certainty while worrying about other things and helped me bond with my baby. So ignore some of these posts and you focus on your baby.

Hi, thanks for the reply. The doctor is an OB i went to for a 2nd opinion. I also read this on several medical journals, that most of the fetuses that show this condition are miscarried by the mother's body during the 1st trimester. Because it is a highly fatal condition for the fetus.

The babies that were born with turner's are refered to as miracles, as they are a rare occurence with regards to this condition.

Is nipt like harmony

If so then if the nipt is saying female then unlikely to be wrong

Scans can be wrong. I know of friends who were told 100% was a girl but ended up being a boy after buying all pink

Nipt/harmony are accurate

Sorry you are going though this

OP I completely understand and sympathise with the urge to get some reassurance in your circumstances, but unfortunately it's not straightforward. When it comes to sex chromosomal differences there are so many different possibilities that it really isn't possible to give a definitive interpretation from this NIPT and early scan.

For example, the baby could have some cells with XY and some with only one X (this is called mosaicism) which could account for the high risk of Turner's identified by NIPT and the scan suggesting male. In a case like this it is very hard to predict how the baby would be affected, and furthermore this is just one possible explanation. You'd likely get a firmer indication of what's going on with the chromosomes from an amniocentesis and a later scan, but even then it might not be possible to fully understand to what extent the baby is affected (if at all) until after birth.

I'm sorry you're going through this worry and I hope for the best possible outcome for you all.

Go by the ultra sound that's more accurate by 99 percent x

Umm no - NIPT is more accurate. A scan (particularly before 16 weeks) is not accurate.

Im really sorry OP - I’d trust the NIPT more, but if it was me in your situation I’d get the amnio as it will 100% guarantee you get the correct answer. Good luck with whatever you decide and I hope baby is ok, will keep my fingers crossed.

This is incredibly sad - I'm sorry OP.

And sorry you've had to endure shitty comments on this thread from people lacking reading comprehension skills. Arseholes.

Nipt is very accurate. Ultra sounds are known to make errors in determining gender. If go with the Nipt result but can imagine how awfully Stressful it is.
Different but myUS and bloods have an extremely high liklihood of downs or turner, nipt ruled it out. I was told the uS were not good at t measuring anything general( like sex) unless done by soneone who specialises in scanning that one particular thing- ie heart, limbs and often even sex (I had this fine which showed the precis scans were incorrect)
I fully understaff the need for more certainty though. Id do a second nipt before an annio personally but realise that's the definitive option. I was told nipt us very very accurate so go with that and not scans

Good luck

Hi, thanks for the reply. I completely understand, and am at peace with whatever will happen. I just feel sad i can't bring more happy news to my wife. We will do another NIPT tomorrow, prior to the amnio next week. Fingers crossed!

Thanks again.

I'm so sorry you're going through this. I know someone whose ultrasound looked like a boy and had to be double checked at birth as baby was girl bit with a very swollen vulva and clitorous making it look like testicles and a penis.
I understand why you'd want a boy but I would focus on preparing for a girl and the challenges you'll have and if its a boy it would be a relief. Good luck.

I would have an amnio in your position as that will give you a definite answer one way or the other, so I'm glad to hear that you have booked one for next week. Good luck OP.

Hi all. Appreciate the support and responses.

I would like to inform, that i am located in Indonesia, so i wouldn't put all my eggs in one basket for the NIPT results, as SE Asian clinics have the tendency to be a bit gung-ho with the results. I just spoke with the NIPT technician, even he said the gender accuracy for all the NIPT cases he has taken on is around ~70%. The only guaranteed results are the trisomy abnormalities.

I dont know if he's just saying that so i would go for another NIPT(lol, hopefully not). Or being genuinely concerned about our situation.

Fingers crossed, everybody!

Can you request your nipt is sent to the us? See if you can find somewhere that will. Mine was sent they're from the UK and back in 9 days. They say their results are 99% accurate. Could be worth a try?
Sending best wishes

Please offer support to your wife and not false reassurance that the foetus is healthy - you don’t know that yet and unfortunately it might not be the case (though everyone here has their fingers crossed for you both).

Trying to convince her everything is ok could backfire, especially if it isn’t the case after the anmio.

What a stressful situation. I hope everything works out for you x

Why are you even replying on a thread like this if you can't understand they ops posts!

Good luck op

You’re right, you’ve misunderstood the OP’s motivation for asking o

Hi all, just a quick update. Had another ultrasound, and still a boy.

Are you repeating bloods/NIPT?

I'm pleased that the ultrasound is looking like a boy, but I'd be concerned about why the NIPT came back as girl - they're usually so accurate. If chromosomal issues are a possibility, I'd want that repeated. It seems either the predicted sex or the predicted issue are wrong.

My fingers are really crossed for you.

Hi! We had another NIPT extracted just this afternoon. We'll get the results maybe in a week, just prior to our amnio schedule.

Not taking any chances.

Fingers crossed, everybody!

I don't understand how a nipt/harmony can be wrong as they tell the sex so early on

How can they say girl

But scan say boy

I had a CVS test with my son (for chromosomal tests, for the condition my daughter died of) they managed to get some of my maternal cells so the tests came back inconclusive for sex. My lovely consultant scanned me at 14 weeks and said he was definitely a boy. 17 now, no genetic issues and 6ft 2.