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Original poster

High NT - CVS Results - Single Gene Disorder

3 replies

AL9 · 27/10/2024 15:20

Hi,

I had my 12 week scan and found that the NT is 4.5mm which is high and 1:6 possibility for DS. I was referred to the fetal medicine department, and went with CVS as myself and my husband wanted to be sure. I received my final CVS results a couple of days ago, it is normal which is a relief.

But, there is a line in the report which says "Please note that a microarray does not exclude a single gene disorder". This concerns me a lot.

Am I overthinking that baby might definitely suffer with something or the other when it's born? Has anyone experienced this ? Any inputs, suggestions, guidance will be very helpful.

Thank you!

OP posts:
Dinosaurus86 · 27/10/2024 20:27

I think they are just highlighting a potential limitation of the technique, rather than saying there definitely is something wrong. My understanding (might be wrong) is that the microarray doesn’t give full genome sequencing, so doesn’t completely rule out that there could be something wrong. You could ask if there are any other gene tests they will do for you. I assume they are doing a heart scan for you? I believe sometimes, if the CVS/amnio is clear but there’s a raised NT measurement then it can be indicative of a heart problem (many of which are minor and/or treatable).

Original poster
AL9 · 28/10/2024 07:58

Dinosaurus86 · 27/10/2024 20:27

I think they are just highlighting a potential limitation of the technique, rather than saying there definitely is something wrong. My understanding (might be wrong) is that the microarray doesn’t give full genome sequencing, so doesn’t completely rule out that there could be something wrong. You could ask if there are any other gene tests they will do for you. I assume they are doing a heart scan for you? I believe sometimes, if the CVS/amnio is clear but there’s a raised NT measurement then it can be indicative of a heart problem (many of which are minor and/or treatable).

Yes, I have a heart scan scheduled in the next few days. Thank you for your response! I'll discuss with the doctor and check if there are any gene tests.

OP posts:
ThatAmberSloth · 12/07/2025 21:06

Hi first time posting but wondered the outcome for you? Just had my dating scan at 13 weeks and nt was 4.6. CVS booked for Thursday but feel in limbo right now waiting.

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