Referred to FMU - Abnormalities found 20 week scan, advice is really appreciated
My baby has been diagnosed with AVSD, no right kidney, and a curved spine (confirmed not to be spina bifida due to normal brain fluid levels). Screening results show a 1 in 5000 chance for Down syndrome, Edwards, or Patau syndrome. Despite these low-risk results, they’re recommending an amniocentesis to check for any other possible genetic conditions not visible on the scan. My partner and I don’t have any genetic issues (I just have PCOS), so I’m confused and concerned about why these abnormalities occurred.
I’m hesitant about the amnio since I don’t plan to terminate, no matter what they find. The doctors mentioned the baby may need open-heart and spine surgery after birth, and I’m willing to take that risk. I love my baby and want to continue the pregnancy, but I’m wondering if that’s selfish of me. Are there any less invasive tests that can check for genetic disorders? What’s the outlook for a healthy life with these issues? Is it reasonable to take this risk? Has anyone had such issues in their pregnancy - AVSD, Spinal Problems. My pregnancy is going well overall - first baby and I feel so sad this is happening! Any advice? Thank you
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