Nipt says girl, but ultrasound says boy!

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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!

Are you being serious, the 99% abnormality risk is what I would be focusing on.

Honestly you need to get some counselling through GP about this, this does not seem a normal thread to make in the circumstances, and title is misleading title when your baby has such a catastrophic diagnosis.

Are you feeling OK?

I think the point of the thread is, that if baby is a boy, they very likely won’t have Turner’s syndrome. Rather than worrying baby is the “right” sex.
OP I agree that ultrasound does look boy. Have the hospital offered further testing?

Hasn't nipt results told you the sex? They usually do.

This. And reread the OP @Dreamsaregood it said a high chance of abnormality, not a 99% chance.

Not if it is from the NHS. You can opt to know then sex if it is private.

It is obvious that the OP is ‘hoping’ it’s a boy not because she wants to dress him in blue and dinosaurs but because she’s hoping it means he doesn’t have Turnder syndrome FFS

Sorry you're going through this. Unfortunately, baby is still a few weeks off being able to reliably tell the sex yet.

It does look like a boy.

It sounds like you're either in the States or Canada.

Best course of action to speak to your obgyn and see what they recommend. Gather as much information as you can and try to be patient. Ask for another scan or go private for one at 16 weeks to confirm sex.

Wishing all goes well for you.

Hi! Thanks for the reply. As i've mentioned, Turner's syndrome almost exclusively affect girls, 1 in 2000-2500 births have this condition, and 99% of these births are girls. Also for the mortality rate, my OB said, that if the body detects abnormalities, it will automatically abort the fetus within the first trimester, thus the 99% fetus mortality rate. I am hoping that the boy scan is correct, thus confirming that the fetus doesn't have Turner's syndrome.

Your baby is likely to have a debilitating illness but you're worried about their sex? I don't understand.

Hi, thanks for the reply. I just went for a scan yesterday, at 15 weeks and 5 days, but the scan doesn't show the genitals, because of a difficult position the baby is in. Also hoping, that because i am entering my 2nd trimester, that my body hasn't rejected the fetus, so fingers crossed everything is normal.

My OB has recommended that i do Amniocentesis, which is invasive and does carry risk to a degree. Another option is to another NIPT. Those were the two options my OB gave

13 weeks 2 days is too small to sex on an ultrasound.

You need amniocentesis, or another NIPT, or a scan further on - with the latter having the most margin for error.

Hi, thanks for the reply. My bad for forgetting to mention that the NIPT said the sex is female. But looking at the ultrasound scan we do hope that it is a boy. If it helps, i was tested on 11 weeks and 1 day. Fetal fraction is around 7.8%

My first born daughter, her NIPT was taken at 12 weeks and 4 days, with a fetal fraction of 15.4%.

So we are hoping that because of the period of sample extraction it can lead to a premature testing of the fetus placenta.

Hi, thanks for the reply. Turner's syndrome almost exclusively only affects girls, so if the fetus is a boy, we almost certainly dodged a huge bullet. That's why the concern is for the sex of the baby.

So sorry you're dealing with this. Such a stressful situation

OP, I’m sorry for the stress you’re going through and hope you get the best outcome.

Im also sorry you’re having to answer people who have entirely missed the point of your thread somehow and think you just want a boy because you like the colour blue. I don’t understand how they are missing what you’re asking for, but well done for keeping composure in your response to them.

sorry I don’t have any advice but I’m just dumbfounded that people are giving you shit on this.

Hi, to clarify, the scan on the left, where we can see the genitals, was taken at 15 weeks and 1 day. The scan on the right was on 13 weeks.

And this. Wishing you the best, OP.

Then read the thread!

It is highly, highly unlikely that the NIPT has incorrectly identified the sex of the baby. I’m very sorry

Edit to add that Turner syndrome can be associated with abnormal genitalia/intersex conditions, where on a scan it is difficult to differentiate between an enlarged clitoris or a small penis. Do you have a consultant you can speak to about the NIPT result and the path forwards?

Wishing you all the best.

Sorry OP I have misread your post, I really hope the Turners will not apply because you have a boy. It must be such a worrying time, for what it's worth I do think it looks like a boy, private clinics can confirm from 16 weeks.

I hope the rest of your pregnancy runs smoothly and you are looked after by your medical team.

looks like a boy. Hope everything turns out ok for you OP. x

Hi
This must be a very worrying time for you. Just to add in another angle, I had an amiocentesis at 34 weeks pregnant, so if this is something you are considering to get the conclusive results then just to give a success story as my baby was not impacted by the amnio. Best of luck to you in whatever you decide and hope the baby is well x

I'm so sorry you're going through this OP, I think further testing would be beneficial as unfortunately Turner's syndrome can cause issues with the formation of genitals.

There is an obvious nub on the ultrasound, although I also see 3 brighter white lines that are usually seen in girls. I don't think you'll be able to rely on ultrasound alone in this instance for peace of mind.

I’m sorry OP that you have such worrying news.

Even if it is a boy there is still a chance that it has Turners. 1% is small but still there. It wouldn’t rule it out completely.

I’m not sure you would trust another NIPT so for your piece of mind an amino is probably the best next step.

Hi all, many thanks on your views and inputs.
I am the husband, as my wife is in shambles, so i went to search on all the forums i can find about this. To reassure her that the fetus is healthy.

We will go to singapore to do amnio next week. Do wish us luck. Hope everything is normal.

Once again, thank you.