title: Genetic aetiology of reproductive failures.
abstract: The percentage of couples who have problems with reproduction is growing in industrialised nations. Clear genetic aetiology of reproductive failures can be discovered in at least one-sixth of them. All these couples should undergo a comprehensive genetic examination including karyotyping of both partners. Results were obtained over a period of 12 years (1985-97) when studying couples with reproductive failures by taking their detailed family histories and by cytogenetic analysis of their karyotypes. The study subjects were 410 couples (i.e. 820 persons) with different types of reproductive failure from Prague and its surroundings. In 3.16%, one member had an aberration of autosomes and, in 4.38%, one member had an aberration of sex chromosomes. Of these 7.3% had, besides infertility and/or repeated spontaneous abortions, the birth of a child with a polygenic congenital malformation. A detailed genetic investigation of couples with reproductive failures should not be neglected when trying to find the best treatment.
authors.affiliation: Department of Clinical Genetics, Thomayer University Hospital, Postgraduate Medical School, Prague, Czech Republic.
authors.forename: M
authors.initials: M
authors.lastname: Kucerová
authors.forename: J
authors.initials: J
authors.lastname: Horácek
authors.forename: K
authors.initials: K
authors.lastname: Svetnicová
authors.forename: V
authors.initials: V
authors.lastname: Gregor