If a woman knows she is a carrier for X-linked adrenoleukodystrophy what are her options for having children?

There are multiple options for a woman who is a carrier for X-linked adrenoleukodystrophy to expand her family. These options are deeply personal and there is no one "right" way to go about building a family. Options include using preimplantation genetic diagnosis and in vitro fertilization to ensure the child will not have X-linked adrenoleukodystrophy, having a natural pregnancy and doing prenatal testing, having a natural pregnancy and testing for X-linked adrenoleukodystrophy at birth, using a donor egg to conceive, and/or choosing to adopt additional children. Some of these options, such as preimplantation genetic diagnosis and some forms of prenatal testing, require that the specific genetic change in ABCD1 be identified. The best time to discuss your options for family-building is prior to pregnancy. A genetic counselor can help explain each of these options in more detail and help you evaluate which option is best for you. The genetic counselor will not tell you which option you should pursue. Genetic counselors can be found on the National Society of Genetic Counselors website.

Steinberg, S., Moser, A., Raymond, G. X-Linked Adrenoleukodystrophy. Gene Reviews. Online database. Updated April 2015.

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