[mlb]

My friend went to her ultra sound appointment and was told that there is a 1 in 5 chance that her his has this defect. The Dr. also said that it was a terminal condition, with the baby exprected to survive may a few hours after birth. It was recommended that she have an amniocentisis. She is unsure what to do as she doesn't feel good about having an amnio due to the risks. She is 36 and is 14 weeks along. Does anyone know anything about this condiditon?

[babydecker]

Michelle,

Everything that I know about the two chromosomal defects is from women on the internet who have lost children from them. It is your friend's choice as to whether she wants to know for sure if her child will be born with either of these and the only way to be 100% sure is by amnio. There are risks but there are unfortunately going to be risks if the baby has these anyway. It is a tough decision and my heart goes out to her. The only thing I can add, because I've lost a baby of my own, is that it is the hardest thing a mother can go through. It is life changing and you are effected by their short life in so many ways. My prayers are that the DR is wrong with the diagnosis. My best to you both.

[designdiva32]

Was she 14 weeks when she had the ultrasound? If so then thats probably a bit too late for an NT scan and the chances of it producing a false positive is relatively high. If however she was at the required 12-13 weeks then she should still not panic until further testing is done. These scans are often wrong. I know the amnio is scary, but perhaps it might give her some peace of mind. Whatever the outcome knowing whats coming and being prepared emotionally might help. Good luck with it all.

[mlb]

She is having 2 more ultra sounds, next week and the week after. If the fetus shows any of the markers then she will have the amnio. I guess she can't have the amnio for another two weeks anyway so this gives her some time and info before she decides. Thank you for you kind thoughts.