NT Fluid measuring 6mm

[HoneysuckleMoon]

Hi guys. Myself (25year old Female) and my Husband (35year old Male) had our 12 weeks scan today ( I'm almost 13 weeks along, baby is measuring 13weeks 3 days). This will be my second pregnancy , first child was born without any issues.

Our scan was going perfectly , the baby is the correct size for its age, cranial size was perfect nothing strange or abnormal about the baby's limbs or movement , and the heart rate was perfect. However at the end of the scan the Midwife completing the sonogram told me that it was bad news, the babies NT fluid was measuring 6mm and anything over 3.5mm or 4mm is considered abnormal and signifies chromosomal issues with the baby.

Naturally we are extremely shocked, we are both young and healthy there's absolutely no medical history of chromosomal issues or downs syndrome on either side of our family . I'm Irish and my husband is American , and while we were in the states we found out I was pregnant and I had MaternitiT21 genetic testing through LabCorp at 9 weeks which came up completely negative for any chromosomal issues and we found out were having a boy. I'm now in Ireland where I got the sonogram and the Irish midwife who completed the sonogram suggested that somehow the genetic testing I had in the states could be wrong based on the NT fluid.

I've been reading the internet and have found good and bad stories , I just wanted to know if anyone else of a similar age cohort and with negative genetic testing has experienced this and what occurred ?

I'm going to be going for further testing in several days I'm just nervous as hell. I only had one mini scan on a portable sonogram machine on my last pregnancy and I didn't have a detailed sonogram until 20 weeks , so I'm not even sure if my last baby had something similar and it resolved he was a large baby weighing 9.9. I've read that this fluid can decrease and resolve by 20 weeks and can be an indicator of a larger baby if genetic testing is inaccurate

Any help or prayers would be appreciated.

Sorry you’re going through this. I don’t have experience with this, just that I had high risk 2 times from the combined test and nipt cleared it out. But I’ve read lots of stories here and on what to expect website with women who had very high nuchal measurement and it got solved by itself, even one with 10mm!

I don’t know about the other test only that genetic tests need to be done after 10 weeks so there is enough of the baby blood in mum’s blood?

have you done the nipt? this should clear things out for you. In the meantime search for the other stories here and try keep yourself busy till you get the nipt back.

Thanks for your response I really appreciate it.

The MaternitiT21 test is a NIPT test which can be done from 9 weeks in the US . We were told by doctors that its one of the most comprehensive non-invasive prenatal tests for detecting fetal chromosomal abnormalities.

Thankfully all trisomies, including trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome) were negative .Turner Syndrome (Monosomy X), Jacobs Syndrome (XYY), Klinefelter Syndrome (XXY) , Triple X Syndrome (XXX) all came back as not detected . All the 97 Cystic Fibrosis mutations came back as negative too and the testing for Spinal Muscular Atrophy came back as negative.

Were glad that we at least have that information to keep us in positive spirits and the fact of our age , we dont seem to fall into the typical "High Risk" Group . I'm assuming the Irish Doctors may want me to undergo another NIPT test now that I'm further along hopefully all will be okay .

Thanks so much again for your message , have a good day <3

Hi @HoneysuckleMoon how are you doing? X