UMCG offers a preconception test for the risk of having a child with a serious genetic disease

Starting in mid-May 2018 it will be possible for all couples in the Netherlands to have a preconception genetic screening test via six specially trained general practitioners (GPs). This test makes it possible for couples to determine before pregnancy whether they have an increased risk of having a child with a serious genetic disease.

The test screens for 70 serious genetic diseases that affect children from birth or early childhood. These diseases lead to serious physical problems and intellectual disabilities, sometimes with severe pain, are difficult or impossible to treat, and can lead to early death. The UMCG test examines the blood of the partners to determine if they are both carriers of genes for the same serious hereditary disease. The probability that both partners carry the same disease gene is 1 in 150. If this is the case, the chance that their child would actually inherit the disease is 25 percent (1 in 4) . In cases where both partners are carriers, couples are referred to the UMCG for counselling and assistance in deciding what to do given the results of the test.

Couples can, for example, choose to become pregnant and then have a chorionic villi test (CVS) to determine whether the disease has been inherited by the fetus. Alternatively, couples can opt for in vitro fertilization with embryo selection, or to use sperm or eggs from a donor who does not carry the disease gene. They can also decide not to have children together or to separate.

Couples who wish to have the preconception genetic screening can approach the six GP practices in the north of the Netherlands who are offering the test and who have experience with this screening. This is possible even for couples who are not patients of these GPs. The test costs 950 euros per couple and is not yet reimbursed by health insurance. In the future, more GPs and midwives will be able to offer this test once they have received training.

The UMCG piloted this preconception genetic screening test In 2016. This was done through 13 GPs, including the six who are now providing the test. The findings of the initial research pilot program will be presented this autumn.