Trisomy 8 mosaicism in adults FTNW.pub - Unique - The Rare ...

mosaicism will ever be able to have children of their own, especially if they seem to be
quite mildly affected by the chromosome disorder. There is only a very limited amount
of information available and while there have been a few reports of pregnancy in
women, men with T8M appear to have fertility problems.
Women
One of Unique’s members has three children of her own, all with normal chromosomes,
but has also had miscarriages. There are two reports in the medical literature of
women with T8M having a baby, in both cases with normal chromosomes. One of
these women also had a series of miscarriages and there are two other reports of
women having repeated pregnancy losses. One of the women who had a baby with
normal chromosomes had developmental delay herself, but the other women who
became pregnant were developmentally normal or only had very minor typical signs,
such as incurving little fingers or recurrent mouth ulcers.
When a woman with T8M becomes pregnant, the baby’s chromosomes can be checked
before birth by chorionic villus sampling or amniocentesis. Before planning a pregnancy,
people with T8M are recommended to have a discussion if possible with their clinical
geneticist or genetic counsellor about the options for testing in pregnancy.
There are no reports of women with T8M having difficulties in pregnancy or childbirth
caused by the typical narrow pelvis associated with the disorder.
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