Genetic Counseling and Testing Prior to Assisted Reproduction

Journal für Reproduktionsmedizin und Endokrinologie - Journal of Reproductive Medicine and Endocrinology 2009; 6 (1): 6-10

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Keywords: ART,  Assistierte Reproduktionsmedizin,  Chromosomenaberration,  Genetische Beratung,  Humangenetik,  Reproduktionsmedizin,  assisted reproduction,  AZF,  CFTR,  chromosomal abberrations,  genetic counseling

Chromosomal aberrations and monogenic conditions contribute to the heterogeneous etiology of male as well as female sub- or infertility and result in an overall increased risk for congenital malformations, developmental problems or monogenic disorders in the offspring after assisted reproduction when compared to the general population. Therefore, genetic counseling and testing has been implemented in the routine workup prior to assisted reproduction and should be individually assigned based on provided medical and anamnestic data of the couple and their close relatives. Here we provide an overview on the current clinical and genetic data regarding chromosomal as well as monogenic conditions most frequently observed in couples with sub- or infertility as well as practical considerations and recommendations to implement appropriate genetic workup in the routine diagnostic procedures prior to assisted reproduction and during subsequent pregnancies.