Genetic testing before pregnancy

Is it worth doing genetic testing before pregnancy?

In healthy individuals with no previous family history of genetic diseases, there is no need for specialized genetic testing before pregnancy. However, they are recommended for those with a family history of hereditary diseases and for recurrent miscarriages and pregnancy losses. These tests are designed to check whether the Parents are, for example, carriers of a genetic mutation that can cause a severe congenital or fatal disease. If the Parents are carriers of the recessive disease, they may not present any symptoms, and it is only in combination that the full-blown disease may develop. However, this does not mean with 100 percent certainty that the child will be born sick. For recessive diseases, the risk is 25%.

What genetic tests can be done before pregnancy?

Genetic tests performed before pregnancy include those for, among other things. Cystic fibrosis, phenylketonuria or spinal muscular atrophy. Different types of centers offer different panels of tests containing different sets of genes and possible diseases to study. Elevated risk of transmitting a genetic disease to a child makes it possible to implement appropriate management, for example, to plan an in-vitro procedure with pre-implantation diagnosis of the embryo. As a result, the couple is likely to have healthy offspring.

Cost of genetic testing before pregnancy

Pre-pregnancy genetic testing, unlike prenatal testing, is not reimbursed by the National Health Service. Parents must cover the costs out of their own pockets. The price varies depending on the panel of tests selected and the laboratory performing them. In most cases, it costs from 1 thousand zlotys and up.  Often you also need to add to the package of tests, for example, a consultation with a geneticist who will discuss the results.

Pre-pregnancy testing

Gynecologists recommend that a woman have blood and urine tests and often antibody levels for infectious diseases before pregnancy. Thus, it is possible even before pregnancy to possibly vaccinate. This is especially important in the case of vaccines that are not allowed during pregnancy. A healthy balanced diet, absence of stimulants and physical activity in both partners are also important. If the mother-to-be suffers from chronic diseases such as diabetes or hypertension, for example, it is worthwhile to go for a consultation with a specialist so that the disease is well balanced.

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