Family Planning & Pregnancy

Genetic diagnosis detects potential risks for mother and child and helps to implement preventive measures.

Each pregnancy is associated with risks for both mother and child. These risks differ between women owing to exogenous (e.g. smoking, obesity) and genetic factors. Modification of lifestyle reduces exogenous risks. Genetic testing detects increased inherited risks and allows the timely implementation of preventive measures.

Genetic testing is also useful for detection of gene mutations (“alterations”) in healthy parents that can cause disease in the child. In case such mutations are found you and your partner can consult a genetic counselor. He/she will explain the potential risk to the fetus, possible preventive measures and – if available - early treatment possibilities.

Example for use of „Carrier“

Vertical Tabs

Predisposition for thrombosis (thrombophilia)

Thrombophilia is associated with increased risk for miscarriages. Disturbed blood coagulation is found in about 25% of women experiencing complications during pregnancy. Genetic testing is useful in women who had previous miscarriages or have family members with thrombophilia. If necessary your physician can prescribe medications that decrease the risk for thrombosis without endangering the fetus.

Fructose intolerance

Fructose intolerance is caused by mutations of both copies of the ALDOB gene. It manifests during infancy as diarrhea and pain. If untreated, it can result in developmental delay. Fructose intolerance occurs in 25% of children if each parent carriers a mutation in one copy of the gene. PGS detects carrier status.

If a child with fructose intolerance is born, timely preventive measures can be taken and fructose containing food (e.g.fruit) be avoided.

  1. If both parents carry an alteration of the ALDOB gene, their offspring has a chance of 25% to have fructose intolerance.
  2. Future parents want to exclude disease in their offspring and seek help.
  3. Genetic diagnosis and counseling provide important information and allow parents to make appropriate health-related decisions for their offspring.
  4. A fructose-free diet quickly alleviates symptoms of fructose intolerance.