NT test, came back at 4.5mm

[Mrs_X]

Is there any other mummy's experienced a higher nuchal reading or been through it? I'm literally in bits
Baby is 13 weeks 4 days. Has a nasal bone but has fluid at the back of their neck which reads at 4.5. I'm having a anatomy scan at 16 weeks and the usual one at 20. As well as having a fetal heart echo at 24 weeks,
I've completed the bloods for the NHS screening, but the coordinator told me to expect a high result. She told me about a test called NIFTY which has a 99.97% accuracy rate but it's not available on the NHS. So I have booked in for that as I want to avoid invasive tests as much as possible and to me is worth the £300.
Has anyone gone or going through this? What's your story? I feel so alone.

 

[Mummy of Ange]

I went through something similar with my daughter.

At my dating scan I refused the downs testing, just kept thinking I didn't need it, however when I had my detailed scan at 20 weeks I was told the fluid on the neck was 7.4mm when the cut off was 6mm at that gestation.

I was out of my mind, they booked me in for growth scans every two weeks and pushed me to get an amnio done, but prior to this I had lost twins at 24 weeks so didn't want to risk miscarriage.

Scarlett was born perfectly healthy at 39+5.

If they were no other markers you should be fine x

 

[HBGirl]

Yep. We had a nuchal of 3.4mm at 12 weeks. I opted for CVS as we would have ended the pregnancy for any of the trisomies. Our daughter is fine.

 

[venusflytrap]

Hi. I have a 6 month old that we went through a down syndrome scare with. The NT scan was well within normal limits, but my odds for downs came back at 1:15 based on the maternal serum blood work. We had a detailed ultrasound which was about 2 hours in length and done by a high risk doctor instead of an ultrasound tech. There were no soft markers for down syndrome, he had a nasal bone, he had no heart problem, no other organ problems so the doctor changed my odds to 1:35. Well months later Hunter was born. The doctor insists there are no problems. I know something is not quite right. There were too many little things that were bothering me about him. I got him into a paediatrician who ordered genetic testing and the results came back last week. Hunter has a rare form of down syndrome called mosaic down syndrome. It took 6 months to figure it out but we wouldn't change a thing!

 

[Mrs_X]

Thank you everyone for your stories.
There was no other markers, it was just the fluid being higher. The doctors gave us a horrible scare and the statistics were against us.
We had a 16 week scan with a consultant and confirmed the fluid was a cystic hygroma. It was 8.5 mm big and directly behind his neck. Apart from that, all was totally normal.
They called me in for a heart scan at 19 weeks, all was totally normal. And the 20 week scan showed the cystic hygroma was gone and everything was normal apart from a slightly thickened NT (7mm when the norm is 6mm). In proportion, it's smaller than before,
The NIFTY came back clear for Downs, Patauas and Edwards. Turners is impossible as he is a boy .
Basically, they have no idea what's wrong with baby. My opinion? Nothing is wrong with him. He's active, moving about all the time and has a good heart rate of 145bpm. We were originally told chances of having a normal baby were 5% and downs was 50%, now look at us!
He has to be monitored for growth, next scan is 28 weeks and I am under consultant care until he is born. He will need to be assessed by a paediatrician when born, but the originally prognosis we were given was pants.
Still nervous about the 28 week scan and this has totally ruined my pregnancy experience. Feel like we have been robbed .

 

[JT2013]

I had NIFTY as baby's NT was 2.7mm which is only at the upper end of normal but NIFTY is done quite commonly here as there's a processing lab locally. I was so relieved that it came back clear but it was an unpleasant wait. We get scans every month here so the baby will be checked extra carefully for signs of heart problems etc. We asked not to know the gender from NIFTY it but against the result for Tuner's there's just a / and then risk assessment shown as 'low risk' so wondering whether they've inadvertently given me the gender anyway! Mrs X - how was was your result displayed?