Prenatal Diagnostic Testing

  • Hello. I am a first-time mom with some questions or in search of support for testing on birth defects.

    My next check-up is on week 17 (currently going into my 14th week), at which point I can opt to receive the diagnostic testing for birth defects.

    Being that this is my first pregnancy, I have mixed emotions. Finding out about such life changing issues early on would definitely satisfy the planner-side of my personality. However, I have read that it comes with risks - miscarriage specifically. Unless the defect is detrimental to me and/or the baby, I would plan on carrying my child to term anyway.

    I'd like to hear opinions, stories and advice on what others have experienced - testing or not.

    Thanks and I look forward to talking with you in other post!

  • I am currently 22 weeks pregnant and we did all the non-invasive prenatal testing which included extra lab work and the neurotubal ultrasound and labs. Everything for us came back that we were not at an increased risk and would not need to do any amnio testing. I think doing some of the basic tests is good, we would have wanted to know if we were at higher risk or if more testing should be done. One thing to consider is the cost, the extra tests are often not covered under routine prenatal care so I would check with your insurance or confirm the cost with your clinic. The main thing we thought about is, would we do anything different if there were anything identified, and in your post you say no, so it may not be worth all the worry about it. During your routine 20 week ultrasound, they can tell a lot too.  Good luck with the rest of your pregnancy and with whatever you decide.

  • i just went through this issue with my fourth child.  being an "experienced (older)" mom the risks were higher for birth defects this time around.  so when the "quad screen" blood test came back abnormal we were naturally worried.  be advised that the quad screen should be done during a certain "window" in your pregancy (usually the earliest around 17wks).

    our decision was this. even if we found out that our baby had a birth defect or chromosomal abnormality (such as downs, or trizomy 18) we wouldn't terminate either.  however, if we needed to change our living situation, prepare our home for a handicap child or make financial sacrifices that is something we would want time to plan for.

    well the the abnormal blood test lead to a level two ultrasound with the possibility of an amnio if more key indicators were found.  the decision was that if more abnormalities were found on the ultrasound that an amnio would definately be "necessary".  however, if no key factors were seen (which there are many that are detectable on the level 2 ultrasound) then the risks associated with amnio were not reasonable just for our own curiosity - when a 2nd blood screen could just be run.  in the end the amnio wasn't needed and all is well.  there needed to be an adjustment to the due date (by 3 weeks later) so that is what skewed the blood work overall

  • Thanks so much for the information. Very helpful. I had the testing (just blood drawn) 2 weeks ago and will know the results in another 2 weeks. Part of my hang up with the testing was confusion. I thought they were actually giving me and amnio, which of course is the procedure that carries the risk. Seeing that it was just drawing blood this time around I opted for it. I really appreciate the comments. It's good to hear other stories and experiences to help put my mind at ease during this brand new, but amazing experience.