How can a person (male/female) make certain any future children are born free from ALD/AMN?
A man who has ALD or AMN will not pass the disease gene to any sons, but all of his daughters will carry the mutation. A woman who carries the mutated gene has a 50-50 chance of transmitting the mutation in each pregnancy. To avoid passing along the gene, there are two options: in vitro fertilization with preimplantation genetic diagnosis, which would avoid implanting embryos with ALD. The other option is prenatal testing using either chorionic villus sampling or amniocentesis, which is performed early in pregnancy Prenatal testing to determine whether an unborn child is affected is possible if a specific ALD mutation has been identified in a family. There are two tests that can be used: chorionic villus sampling, done at 10-12 weeks gestation by removing a tiny piece of the placenta and examining the cells; or amniocentesis, done after 14 weeks gestation by removing a small amount of amniotic fluid and analyzing the cells in the fluid. Both procedures carry with them a small risk of m
