Abnormal Nt Scan Please Help

Keeping you in my thoughts. 12 weeks is so early to determine anything with certainty. Chances are SO good that everything is perfectly fine. Think positive. Please let us know how the visit with the specialist went. Wishing you the best .. and BREATHE deeply. Often. Hugs.

I don't have any info on this. It's best to wait for your doc to tell you what to expect. Don't go on the Internet because they don't have experience with your particular case.
I know you are scared and anxious. I will pray for good news and a healthy baby!
Come back and ask questions anytime or just vent. It helps.

T., I dont know exactly what is going on but I want to wish you and the baby best of luck. You are in my prayers today. Dont google, its always going to give you answers from the bad side (unless you google dog issues then its always possitive lol kinda weird!). Take a deep breath, try to stay possitive. Keep us posted!

I would usually tell moms with an abnormal NT result to relax and not worry, particularly if you had a normal first trimester screen and no others markers on the ultrasound.
However, while I don't think that you should panic and certainly this can turn out to be completely innocent, with a measure of 6.0 and additional concern on the u/s I think it would be appropriate to try to begin, for yourself and with your partner, think about a few "what if" scenarios.
What kind of further testing, if any, would you want?
Is a termination if this pregnancy something you would consider or would you carry a pregnancy to term no matter what?
How is your access to medical care, specialists if needed - maybe look around or ask for doctors in your area specializing in maternal-fetal med or genetic counseling.

For any definitive answer you need to talk to the specialist who will most likely recommend further testing. At this point in pregnancy you can have two diagnostic tests: a non-invasive blood test that uses the cell free DNA of your baby in your blood to detect Trisomy 21,13 and 18 (commonly referred to as MaterniT21 but there are a few other brand names). Or chorion villius sampling (CVS), an invasive test in which a small sample of placenta is used to determine the baby's chromosome number.
If you wait until 16 week you can also have an Amnio.

You can also decide to proceed with your pregnancy without further testing or only choose further Ultrasound monitoring which will be able to detect major organ problems, but not help diagnose any underlying condition.
It depends on whether you want to know "for sure" (really about 99% certainty) or whether you can live with the uncertainty and just take things as they come.

Again, by itself the NT measure is not a diagnosis of anything, but it indicates that there is an increased benefit from further testing.
I hope all goes well for you!
Good luck.

This happened to me but I am much older than you and at higher risk for downs. I decided to have the CVS (early amnio). It was difficult but good to get the info. They told me I have a 1:3 chance of Downs but it was not. Then they said increased NT could mean heart or other structural problems. I had to wait til 19 week ultrasound to rule that out. It was highly stressful and husband and I did not tell anyone other than my parents bc it was so upsetting and I didn't want others to worry. All is normal! I would not have done anything differently if I got bad news but having info is better than not knowing, in my opinion. Good luck to you!

My measure for my son was 3.5. When I went for a CVS, the genetic couselor told me that the norm is up to about 2.5 or 3 so I was pretty much on the low side of high. She also said that this could be an indication of something other than Downs, like a heart issue or other. DO NOT Google this. There is so much info out there it can really send you off on the wrong track. Some is helpful but a lot if not and can just make you more worried. Just take one step at a time.

My son is a healthy 16 month old that is very fast on his feet.

I'm 36. I did not do this test because the results are often wrong. I did the new blood test which can detect the probability of downs with 99% accuracy, & trisomy 13 & 18 with over 80% accuracy. Also it can tell you the sex of the baby.

Good luck! You're young. I'm guessing your baby will be just fine :-)

Hi T.,

Ina gave you an excellent answer, and I think, given that it sounds like additional testing indicates an omphalocele, you should consider her advice about preparing for "what if" scenarios. Be strong, dear. I'm afraid you might be in for a rocky path, depending on what the chromosomal testing reveals, and the size and extent of the omphalocele. Make sure your doctor/ genetic counselor spends as much time with you as YOU need, and answers all of your questions, and don't hesitate to return to this site for support. You'll be in my thoughts and my prayers.

Sending you hugs. Friday will give you some info. Then you can sit and talk to the specialist. Try to remain positive. Please let us know how things go. Good luck.