Genetics
Every living organism has a specific set of chromosomes, which is called the karyotype. A karyotype consists of 46 chromosomes – of which there are 22 pairs of autosomes and a pair of sex chromosomes.
Women have two X chromosomes (chromosome 46, XX), while men have one X chromosome and one Y chromosome (chromosome 46, XY).
Each chromosome contains genes with hereditary information. A karyotype can be examined using cytogenetic and molecular genetic analysis methods.
Whether there is an improper distribution of chromosomes in all cells, or in a part (mosaic), can significantly affect fertility. The alteration of individual chromosomes can also lead to infertility, fertility restrictions, or miscarriages.
There are many possible reasons for repeated pregnancy loss, but approximately 85% of all miscarriages are due to chromosomal abnormalities in the embryo. However, in women with multiple miscarriages after the presence of a fetal heartbeat, it is more likely that the cause lies in a blood clotting disorder (thrombophilia), a hormonal disorder, or a pathological change.
Genetic counseling
Genetic counseling should be sought, for example, if:
- the presence of a genetic disease is suspected
- one partner (or both) is known to be a carrier of a genetic disease (s)
- a potentially genetic disease has occurred in the family
- in a partnership, a child with a genetic disease has already been born
- the partners are related to each other
- parents are of advanced age when it comes to childbearing
- Repeated miscarriages without known cause have occurred
- There are fertility problems