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Abstract

Genetic diagnosis in couples with infertility

Genetic changes are frequent causes of fertility problems. Genetic counselling and in most cases also a chromosome analysis is indicated for infertile or subfertile couples seeking help. In cases of normal karyotypes, molecular diagnostics can be offered depending on the clinical features. Premature ovarian insufficiency might be caused by premutations in the FMR1 gene and polycystic ovaries combined with other symptoms of late onset AGS by mutations in the CYP21A2 gene. In azoospermic or oligospermic males carrying no chromosomal aberration analysis of the CFTR gene and the AZF region is indicated.In Germany,according to the forthcoming «Gendiagnostikgesetz« - a law regulating genetic diagnostics - a thorough counselling in advance to every diagnostic procedure is compulsory.A genetic counselling must be offered in cases of pathological findings.There exist a great number of rare genetic causes of infertility which could be disclosed best in the course of a genetic counselling including a clinical examination.

CME Prakt Fortbild Gynakol Geburtsmed Gynacol Endokrinol 2009; 5(3): 168-181

Keywords
Infertility,genetic diagnostics, abortion, abortion couples

Rolf-Dieter Wegner1, Matthias Bloechle2
1 Zentrum für Pränataldiagnostik,Kudamm 199 und Institut
für Humangenetik, Charité Campus Virchow, Berlin
2Kinderwunschzentrum an der Gedächtniskirche, Berlin
Reviewer: Moritz Meins, Göttingen
und Lutz Pfeiffer, Berlin

Wegner R.-D. Genetische ... Gynakol Geburtsmed Gynakol Endokrinol 2009;5(3): 168-181 publiziert 30.11.09 www.akademos.de/gyn ©akademos Wissenschaftsverlag 2009 ISSN 1614-8533