Ask a doctor on the topic of Gynecology

Genetic predisposition and desire to have children

September 9, 2019 | 50,00 EUR | answered by Dr. med. Frauke Gehring

I am female, 31 years old, healthy, and have a desire to have children with my partner. However, I have a genetic predisposition (very rare, with only 100 known cases) that is inherited in an autosomal recessive manner. This is located in a specific gene, with the exact location within the gene also known.

Is there a prenatal diagnostic test that can detect such specific defects, or is this only possible with preimplantation genetic diagnosis (PGD)?

Dr. med. Frauke Gehring

Good morning,

The genetic code can be read from normal cells, which are usually taken from blood or a swab of the oral mucosa. Please contact the Department of Human Genetics at the nearest university hospital for this purpose.

Tests for genetic diseases that manifest before the 18th birthday are also carried out on the unborn.

I wish you all the best!

Sincerely, Dr. Gehring