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I am 38 and 12 weeks pregnant. I had an ultrasound today that showed that the baby's neck is too large (6.4 mm), chin is too small, with a possible heart defect. I had a CVS performed right after the ultrasound and am waiting for the test results. My cell-free DNA test came back normal (no Down Syndrome, etc.), so the doctor thinks that the baby may have some rarer syndrome. I'm just reaching out to see if anyone out there had abnormal findings on their ultrasounds, which later resolved? Anyone have a story of having a scary ultrasound but ended up delivering a normal baby?
Not me unfortunately. So my sister is a genetic counselor and I have learned a lot from her. Also, my youngest (and only living) son spent two weeks in a high level NICU and was evaluated for dozens of strange disorders.
I hate to have to say this, but I think you have to prepare yourself for a diagnosis of some sort of disorder. The nuchal translucency is pretty high, and a receded chin is pretty characteristic for genetic disorders (they're not sure why). Your baby may not have heart defects, I have seen a lot of moms come through here with u/s that show a possible heart defect but then the baby is born normal. My stillborn son had an u/s that indicated he had heart defects (as well as the conditions which took his life, which your baby does NOT have). But when he was autopsied, his heart was perfect. But heart defects aside, your baby most likely has a genetic disorder. I'm so sorry to have to say that, and I'm hoping that the fact that I'm not a doctor or genetic counselor means I'm wrong, but sadly, I don't think I am.
But don't give up hope. A lot of genetic disorders don't really impact quality of life. I lost a daughter to Turner Syndrome in utero, but babies who survive, well they're basically fine. In fact, one of my old bosses had Turners. She was short, and she probably was going to have to adopt kids, and her chin looked a little funny (receded), but she lived a completely normal life. She went to fewer doctors appointments than I did! And there are SO many, many genetic disorders that are just not that big of a deal. I have no genetic disorders whatsoever, but I have a lot of things wrong with me and it sucks. Some of my sister's old patients (when she did prenatal genetic diagnostics, now she does something else) were born happy, healthy babies. And for those that weren't there was often a treatment available.
So while I do believe your baby has a genetic disorder, I don't think your baby is necessarily going to be devastatingly ill. Because lots of genetic disorders - like blood clotting disorders, which run in my family too - are really not that big of a deal. You know, my living son was born having a seizure and not breathing. The NICU doctors didn't say it flat out, but they thought he had this particular genetic disorder and had at most a year to live. My son disagreed. After two weeks in the NICU, he was healthy enough to go home. He was a normal, healthy, happy baby, and he still is. So don't give up hope. All is not lost. Babies are tough. Babies can surprise you. Whatever it is, you'll figure out how to manage, and you'll have your baby here, to love and to dote on.
If you ever want to talk, either before or after the possible diagnosis, please feel free to PM me. I have done this DNA dance and come out the other side, and I'm here if you need me.