Every living organism has a specific set of chromosomes called a karyotype. A karyotype consists of 46 chromosomes – 22 autosomal pairs and one sex chromosomal pair.

Females have two X chromosomes (karyotype: 46, XX), males have one X chromosome and one Y chromosome (karyotype: 46, XY).
Each chromosome contains genes with hereditary information. A karyotype can be examined using cytogenetic and molecular genetic analysis methods.

If there is a maldistribution of chromosomes in all cells, or in a few cells (“mosaic”), this can have a significant impact on 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 of the embryo. However, in patients with multiple miscarriages after the presence of a fetal heart sound, it is more likely that the reason is a blood clotting disorder (thrombophilia), a hormonal disorder, or a pathological abnormality.

Genetic counseling

Genetic counseling should be sought, for example, if:

  • the presence of a genetic disease is suspected
  • one partner (or both) is (are) known to be a carrier of a genetic disease
  • there is a relative who may have a genetic disease
  • a child with a genetic disease has already been born in the partnership
  • the partners are related to each other
  • advanced age of parents
  • repeated miscarriages without known cause have occurred
  • there are fertility disorders