If someone has myotonic dystrophy, every child of that person has a 50 percent chance of inheriting the gene flaw that causes it. Unfortunately, myotonic dystrophy symptoms are often more severe in the child than in the parent. If there is a desire to have children, it is very important to contact your treating physician or a clinical geneticist. They can give you information about pregnancy, and possibilities to avoid having children with (severe) myotonic dystrophy.

Prenatal diagnosis will test whether the fetus has inherited myotonic dystrophy. The procedure is usually chorionic villus sampling, performed early in pregnancy (around 11 weeks gestation). The cells that were sampled will be tested for myotonic dystrophy. Based on the results of this test, parents may decide to abort the pregnancy. They will need to be supported in this very difficult decision.

In PGD (pre-implantation genetic diagnosis) ova will be fertilised by sperm outside the female’s body (comparable to in-vitro fertilisation; IVF). One cell is removed from each three-day-old embryo. These cells are then screened in a laboratory for the presence of myotonic dystrophy. On the basis of the results of this screening, doctors will decide on the fourth or fifth day following the fertilisation which embryos are eligible to be implanted in the woman’s uterus. Only embryos which do not carry myotonic dystrophy will be implanted. There is a one-in-four chance of conceiving following implantation of the ova. For more information see: www.pgdnederland.nl

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