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High risk of Downs (1 in 3) - please hold my hand

28 replies

ONCanMum · 15/04/2023 05:37

First of all, let me say how glad I am to have found MN. I’ve been in a spiral for 24 hours and had trouble finding stories similar to mine. Note that I am in Canada, not the UK, but our prenatal screening systems are very similar.

Yesterday, I woke up to a normal NT scan report (2.4 mm, 70 mm CRL) and ended the day with a call from my midwife that my bloodwork shows 1 in 3 chance of Down’s. I am struggling to come to terms with those odds and am devastated.

My midwife got me a referral to a genetics counsellor and I assume the next step will be NIPT and/or amnio (I am almost at 14w).

I will be 36 at EDD. My numbers:
NT = 2.4 mm (1.81 MoM)*
Free beta-hcg = 61.43 (1.55 MoM)
PAPP-A = 1.47 (0.35 MoM)
PIGF = 12.9 (0.26 MoM)
MS-AFP = 21.42 (1.09 MoM)

* My NT is 2.4 mm and the MoM is 1.81. Does that mean the median value they used is 2.4/1.81 = 1.33 mm? That’s seems low given the CRL. I think it should be at least 1.5 mm or so???

I’ve been entering my numbers into every online calculator I can find and the risk is still high but usually around 1 in 20. I can’t figure out how they got 1 in 3! I have a call with the counselor next week and will definitely ask them.

It’s going to be a scary few weeks…

OP posts:
ONCanMum · 25/05/2023 03:13

@sillyonehetpes
I wasn’t concerned about the amnio risk and after the screening scare I’m glad I did it because it reduced my anxiety a lot. I just had my anatomy scan and was relatively relaxed because I knew the amnio was clear. The negative NIPT was reassuring but ultimately not diagnostic and my GC suggested amnio even with a clear NIPT because my screening risk was so high.

OP posts:
RubyMae1804 · 18/07/2023 14:50

Nextlevelnonsense · 17/04/2023 00:17

I had very similar with DC3.
They actually asked me to attend an appointment to discuss termination options prior to results of the amnio.

Results were negative for serious abnormalities, so I was advised to expect a serious heart condition that may be incompatible with life. Went to Oxford for heart scan.

Heart scan was fine.
Everything was fine.

Hi thanks for sharing so did you have the NIPT and did that come back as high also? I’ve been searching for answers on line :(

GirlMumxx · 14/01/2025 12:36

ONCanMum · 25/05/2023 03:13

@sillyonehetpes
I wasn’t concerned about the amnio risk and after the screening scare I’m glad I did it because it reduced my anxiety a lot. I just had my anatomy scan and was relatively relaxed because I knew the amnio was clear. The negative NIPT was reassuring but ultimately not diagnostic and my GC suggested amnio even with a clear NIPT because my screening risk was so high.

What was your outcome? currently going through this and i'm heartbroken.

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