MATERNAL GENETIC-DISEASE AND PREGNANCY

With the advent of new genetic technology and the progress of the Huma n Genome Project, we are learning more than ever about the genetic mec hanisms of various diseases. This knowledge,ill lead to better treatme nts and therapies for genetic diseases. By keeping patients healthier and improving survival rates, many affected women will reach childbear ing age, when previously that may not have been possible. This will po se a challenge to the practitioner: how to manage pregnancy in a femal e affected with a particular genetic disease. Knowledge will be lackin g in how a disease may affect either the mother or the fetus. Will the pregnancy exacerbate symptoms of the disorder, create new health prob lems for the mother, or put the fetus at risk? it is important to appl y what we know from our current understanding of pregnancy complicated by existing maternal genetic disease. This article is a sample of gen etic diseases chosen to illustrate how maternal genetic disease may af fect pregnancy. The risks posed to the mother or fetus when disease sy mptoms are exacerbated during pregnancy, such as with the autosomal do minant disorders of neurofibromatosis type 1 (NF1) and Marfan syndrome , are considered. Also, in the age of assisted reproductive technology , pregnancy now can be achieved in some women affected with Turner syn drome; this process is explored. Finally, pregnancy occurring with oth er maternal aneuploidy are examined.