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unknown genetic condition - 1 in 4 chance, any experiences?

(2 Posts)
legoboat Mon 05-Nov-12 17:17:48

Hello - I had a 6 week follow up this morning with a geneticist following a termination for medical reasons at just over 13 weeks in Sep (diagnosis from the scan was not compatible with life).
There was (contrary to their expectations) no chromosome problem with the fetus and they think it's most likely a gene mutation probably on the maternal side in the x chromosome - but can't say for definite as apparently looking for one gene is a bit needle in haystack. They say it's likely to be 1 in 4 of it happening again (although could be less as apparently it could be sporadic), girls should be either unaffected or carriers, boys will be either unaffected or affected (the fetus was male). We already have a DS together, so presumably he's unaffected. If I get pregnant again, I will get very regular scans, but as they don't know which gene they're looking for, they can't test other than this and physically looking at scans for abnormalities. In a way, I was lucky as the abnormalities were so severe that this was evident on the 12 week scan, but apparently there is no guarantee the abormality would be as strong in subsequent pregnancies.
Has anyone had any experience of anything like this? And what was any subsequent pregnancy like? I don't think this will put me off trying again as 75% chance of a healthy baby is still quite high and although it was certainly not a pleasant thing to go through, I do count my blessings for 1. finding out so early and 2. already having a healthy child.

LYN1982 Mon 05-Nov-12 23:37:50

Hello legoboat, I like you, was given 1 in 4 after tfmr. I was given similar info to you also re genes. My baby was also male. My next pregnancy resulted in my beautiful healthy little girl so stay positive and good luck on the ttc journey x

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