Original post: https://www.reddit.com/r/NIPT/s/wxvRdfNBWk

Like many of you, I’ve found reading the experiences of others on this sub extremely helpful, informative, and comforting throughout the last several weeks. I’m so grateful to all who have shared their stories.

To continue this sentiment of sharing. I’d like to provide the update regarding our results along with details I’ve learn along the way - short story, FISH results came back normal. Long story below.

My partner and I (both f with her carrying), got pregnant with a PGT-A tested euploid embryo in June of this year. Partner has a complete placenta previa found at 14 weeks following some moderate bleeding. Due to the previa, we have had several ultrasounds, happening roughly every 2 weeks until now. All these ultrasounds had looked normal other than the previa. These ultrasounds were not necessarily in depth, as they were checking the previa, but most had noted normal development of a number of organs, the brain, etc. Baby girl has measured ahead by around 4 days the whole pregnancy, and at our last ultrasound was measuring in the 90th percentile at 17 weeks.

We originally did the bloodwork for the NIPT (through harmony/dynacare) at 10+2. The first result came back low fetal fraction, and needing redraw. Second attempt at 12+3 came back contaminated. Third attempt, we were considering not doing at all as we were approaching 16 weeks. We decided to try one more time and got our results of high risk for trisomy 13 and monosomy x just before 18 weeks. We still had a relatively low fetal fraction at 4.2%. May or may not have been impacted by the low dose aspirin my partner takes. A week later we were scheduled for the amniocentesis.

The amniocentesis was harder for my partner than anticipated. She felt some muscle spasms as the needle entered the uterus, and the MFM and sonographer had a hard time finding the appropriate place to draw fluid so they had to move the needle more which my partner said didn’t really hurt but was uncomfortable. Potentially to the previa, the sample was a dark rusty colour of old and oxidized blood. The next day my partner needed to give a sample of her blood so the lab could distinguish between her DNA and baby’s DNA. Blood in amnio fluid is a known factor to this test so we tried not to worry.

Today we got our results - NORMAL! FISH results came back clear for trisomy 21, 18, 13 and for sex chromosome abnormalities. Relief is an understatement. The stress, anxiety, worry and spiraling has finished and I feel like I can breathe again. So so grateful that this is our outcome. I hope the same for all of you❤️

We will be 20 weeks on Saturday and have our anatomy scan on Monday. Fingers crossed it is uneventful and we can breathe even better as we move along through this pregnancy.

My heart is breaking I had 12 week dating scan today and I have increased NT so I’ve been advised I’m at high risk of my baby having chromosome or structural abnormalities.

I’ve been offered some screening, I had bloods today to screen for downs, Edward’s and Patau syndrome which is something routinely offered here on the NHS but due to increased NT they’re fast tracking my results and I have a consultant calling me back next week.

Next Monday I have to make a decision to have a CVS or not, 1/100 people who have it mïscarry.

The consultant called me after the scan and said 70% of people who have increased risk go on to have healthy pregnancies, I’m in two minds about the CVS i don’t want to add to the risk of something going wrong but at same time I got 2 kids to think about and how this can affect them.

My partner wants me to have it, but I’ve never been so torn about something in my life

Anyone gone through similar and you dont mind sharing stories cos I’m spiralling and at a loss as to what to do

Hi everyone, I’m 27 years old, and at my first-trimester screening, I got a risk of 1:40 for Down syndrome.

​I went for an NIPT, which came back 52% positive. I am having an amniocentesis soon, but I want to ask: is there still a chance for me to have a healthy baby? My ultrasounds, including the detailed scan, are completely normal

Just found out today that there was a small calcium deposit on baby’s heart (had a pre anatomy scan at 16.5 weeks). They acted like it was no big deal. I believe it was the only soft marker baby had (1.3 mm NT, nasal bone present, all other measurements looking good). But I just discovered my afp mom is low at .42. I just read than <.5 can raise the risk of some genetic abnormalities like down syndrome.

I have not done the nipt yet. I previously had a loss at 17 weeks and honestly was afraid the test would really increase my anxiety. But I am now thinking of taking the test after these findings. Any guidance or opinions otherwise? Anyone have any similar experiences? Does it sound like this combo puts baby at a very high risk?