Genetic testing before pregnancy

Is it worthwhile to have a genetic test before pregnancy?

In healthy persons without a family history of genetic diseases, it is not necessary to carry out special genetic tests before pregnancy. However, in persons with a family history of hereditary diseases and in cases of repeated miscarriages and pregnancy losses, this is recommended. The purpose of these tests is to check whether the parents are, for example, carriers of a genetic mutation that can cause a serious congenital or fatal disease. If the parents are carriers of a recessive disease, they may not show any symptoms and only in combination may a full-blown disease develop. However, this does not mean that the child will be born sick with 100 per cent certainty. With recessive diseases, the risk is 25%.

Which genetic tests can be carried out before pregnancy?

The genetic tests that are carried out before pregnancy include tests for cystic fibrosis, phenylketonuria or spinal muscular atrophy. Different centres offer different test packages, each containing a range of genes and possible diseases that can be tested for. If there is an increased risk of a genetic disease being passed on to a child, an appropriate procedure can be initiated, such as planning an in vitro procedure with pre-implantation diagnosis of the embryo. In this way, the couple has a chance of having healthy offspring.

Tests before pregnancy

Gynaecologists recommend that a woman has blood and urine tests and often antibody levels for infectious diseases before pregnancy. In this way, a possible vaccination can be carried out before pregnancy. This is especially important for vaccines that are not licensed during pregnancy. A healthy, balanced diet, abstaining from stimulants and physical activity are also important for both partners. If the expectant mother suffers from chronic diseases such as diabetes or high blood pressure, it is advisable to consult a specialist so that the disease can be well controlled.

Other recommendations are for couples who are trying unsuccessfully to have a child. In such a situation, you should consult an infertility specialist who will recommend an appropriate diagnosis and further treatment.