Post # 1
I’m 12+4 after success with IVF. I’m Hispanic and 33 years old (I’ll be 34 when I deliver).
I did my prenatal first trimester screening a couple of week ago. Went to my NT scan yesterday at 12+3, it was in the normal range at 1.6mm. Ultrasound looked fine. Baby measured a day ahead.
However, they had me meet with the genetics counselor because combined with the blood screen I’m high risk for down syndrome: 1 in 18.
It looks like I had low MoM PAPP-A 0.21 and high hCG1 MoM 1.68.
Met with genetic counselor again today for a more thorough discussion.
I couldn’t really tell if she didn’t seem that concerned or she just has a blasé demeanor about her in general. She talked about incidences of false positives and that all sorts of things go into the algorithm like age, weight, and ethnicity. After some googling, it looks like being Hispanic might be considered a risk factor.
She went over the options of NIPT, CVS, and amniocentesis.
Of course we decide to do NIPT first. Good news is the state department of public health has taken over the cost of all these specialist visits and NIPT.
So now begins the long waiting game to get my Harmony results back.
Husband and I are nervous about this all, and really hadn’t expected to be dealing with anything like this.
After some other research, it looks like those that use assisted reproductive technologies seem to have lower PAPP-A and higher free beta HCG levels.
Has anyone experienced anything similar? Or know anything about this?
Post # 2
Yes, and I have a beautiful perfect daughter right now.
We went to our NT scan so excited to see our baby. I miscarried my first pregnancy, so when we made it that far with my 2nd pregnancy, I was thrilled. Our little baby was bouncing all around during the scan, and so precious. The measurements on the scan were normal (though on the higher end of the normal range.) I went to work afterward feeling thrilled. A couple days later, I got a phone call from my doctor, asking me to call the office. I could tell there was something wrong by her voice. I tried to call back but no one was picking up, so I drove there. The doctor saw me right away. They said my papp-a was low and my hcg was high. (I think papp-a was .29, dont remember hcg but it was something close to what you had.) With my age (31 at the time) and other factors, they gave me a 1/4 risk of down syndrome, and a 1/80 risk of trisomy 18. They made me an appt the next day for the genetic counselor, and I asked for the NIPT. My husband and I agreed we did not want invasive testing that could harm the fetus. The results came back earlier than I expected (about a week.) All genetics screened normal, and I was having a little girl. I listened to the phone message in my car, and I had to pull over to cry and call my husband. I was so relieved. However, I still wanted answers. Why did the bloodwork come back the way it did? I read a lot of scary things about low papp-a numbers. It seems that papp-a is a result of placenta function. Low papp-a can increase the risk of growth restriction, and consequently stillbirth. It can also increase the risk of preeclampsia. I was still terrified. I ended up begging my doctor for third trimester growth scans, and I started taking baby aspirin. In the end, my daughter was born full term. She was 5 lbs 13 ounces, which was considered “small for gestational age.” They did not notice anything abnormal on the growth scans, but who knows. I think she was starting to be growth restricted and we didnt know. But she was fine. I had a retained placenta after I delivered her. My doctor thinks my placenta may have implanted on scar tissue from my previous d&c. Or maybe all these things were unrelated. But my baby is 6 months old next week and I promise you, there is hope!
Post # 3
I had a normal NT screening first tri. Could not have the ffDNA blood test first tri as I had a vanishing twin so the twin’s DNA would likely have thrown off the results.
My 2nd tri blood test screening was a screen positive–had me at 1 in 72 chance of Down Syndrome. I had the ffDNA test then, as by then the twin’s DNA should’ve cleared my system or been negligible. As many times as I was reminded that 1/72 is only slightly more than a 1% chance (“You wouldn’t want to go to Vegas with those odds!”) I was still scared to death.
It was a loooooong wait as results of the ffDNA test take 7-10 days. Luckily that result came back as a screen negative–my chances went down to 1/1000 which is lower than the baseline risk for women my age (30).
Just had my baby boy last week and he is healthy.
Post # 4
I hope all is well and you testing has all come back normal. I am ina similar boat. My scan was perfect but my blood test came back with a 1/25 chance of trisomy 18. We have opted for a CVS. I am going in for it today and hoping for a postive outcome. Best of luck!
Post # 5
jjbean : Sending you positive thoughts! Everything so far has been okay. We did NIPT, which was normal. We had our anatomy scan, and they didn’t find anything of concern. We do have an echocardiogram scheduled in 2 weeks, but that’s because it’s an IVF baby and they might have higher rates of heart defects.