Severe Micrognathia and hydronephrosis at 13 weeks?

Has anyone been told their baby had severe micrognathia and renal pelvis appearing prominent with fluid filled bilaterally at 13 weeks? I went in for my genetic testing because I have a sister with charge syndrome. This is my second pregnancy. We have a beautiful 2 year old so this is very shocking to us. I’m trying to do more research before our cvs screening Tuesday. Anybody have thoughts on what it could be? Or similar experiences? I have yet to see a case with both this early and the doctor and genetic counselor were very adamant on how abnormal this is to see so early.. also please.. be gentle with me with any answer you may have. I’m hurt by this news.

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COMMENT (5)

Ho

Posted at
I don’t have any experience with this myself but maybe since it’s so early the results they’re seeing now aren’t super accurate? 😥🙏🏼 it just sounds early to see how those structures are developing to me but I’m not a doctor. I hope the CVS gives you more answers

A

A • Nov 7, 2021
Thank you! I’m praying for Tuesday there’s a miracle. They will do ultrasound before/during the cvs screening with the top of the line equipment at one of the top hospitals in the us. I feel confident they will be able to give us a better more clear understanding there and will help answer all the questions I have on why our maternal fetal medicine specialists were acting the way they were.. I will keep people posted on this that way other mamas can get guidance if going through the same things we are.

Za

Posted at
Did your other results come back neg Luke for trisomy 13? I have not had this happen to me, but read a little on it, try not to worry hopefully these 2 issues resolve itself mostly before birth. Keep us updated if you can, hope to see a good result for you all.

A

A • Nov 7, 2021
Thank you, they suspected trisomy 13 or 18. They recommended we do the cvs screening asap but soonest they could at the major hospital of our state was Tuesday, and Monday with a genetic counselor from there. They were sooo adamant about how abnormal it all looked and how they do these ultrasounds everyday and it looked very severe to them. That word was also in my chart notes... it’s scary. I will keep you posted so if there’s another mom in the future going through this looking for answers too, hopefully I can be of some help.

Ke

Posted at
What were your results?