Family Planning

With the Family Planning Panel, you can determine your child’s risk for possible hereditary diseases even before pregnancy. Many people carry disease-causing variants in their genetic material without knowing it and without becoming ill themselves. For example, if both parents are carriers of a disease-causing gene variant, there is a 25% risk of having a child with this hereditary disease. With the Family Planning Panel, both common genetic disorders, such as cystic fibrosis (CF) or spinal muscular atrophy (SMA), as well as very rare syndromes, are specifically investigated. For the evaluation, we combine the genetic data of both parents and determine the risk for your child.

The result of the genetic testing, in combination with genetic counseling, allows you to make an informed decision. In this way, you can inform yourself at an early stage about the various options, such as prenatal diagnostics or early, targeted treatment of the newborn.

The Diagnostic Panel for Fertility identifies the genetic cause of involuntary childlessness. An appropriate diagnosis provides you with clarity. Based on the findings, the attending physicians can further improve the chances of having a child. A molecular genetic examination can determine specific treatment options.

For example, in the case of a congenital hormone disorder, specific hormone therapy can be offered. If a fertility disorder exists due to a tendency to thrombosis, this can be specifically treated with medication.

In men, molecular genetic testing can result in targeted treatment for reduced sperm quality. For example, in oligoasthenoteratozoospermia syndrome (OAT), drug therapy options can be helpful.

The classic indications for this are hormonal disorders at both the hypothalamic and pituitary levels, which can be based on genetic causes. Furthermore, in up to 3% of all infertile men, genetically caused changes in the vas deferens are found, a so-called congenital bilateral aplasia of the vas deferens (CBAVD), which results in azoospermia. This is caused by pathogenic changes in the gene CFTR, which is also causative for cystic fibrosis. However, congenital bilateral aplasia of the vas deferens can only be reliably determined by a genetic test. In these cases, the desire for a child can be fulfilled by artificial insemination in the form of intracytoplasmic sperm injection.

Molecular genetic testing can, if necessary, enable targeted treatment/therapy and be helpful with regard to imminent artificial insemination. Furthermore, it is possible to identify additional risks related to the fertility disorder for the offspring through molecular genetic testing.