Genetic aspects of female reproduction.

BACKGROUND: Sexual reproduction provides the means for preserving genetic identity and in turn, genetic variability may affect the ability to reproduce. This review aims to summarize current research on genetic diagnosis and genetic causes of reproductive disorders. METHODS: Searches were done by s...

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Main Author: ESHRE Capri Workshop Group
Format: Journal article
Language:English
Published: 2008
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author ESHRE Capri Workshop Group
author_facet ESHRE Capri Workshop Group
author_sort ESHRE Capri Workshop Group
collection OXFORD
description BACKGROUND: Sexual reproduction provides the means for preserving genetic identity and in turn, genetic variability may affect the ability to reproduce. This review aims to summarize current research on genetic diagnosis and genetic causes of reproductive disorders. METHODS: Searches were done by subject in Medline and other databases, and each subject summary was presented to the Workshop Group and omissions or disagreements were resolved by discussion. RESULTS: Single-gene defects are most likely to be found among patients with hypogonadotropic hypogonadism, which may be due to defects in the KAL genes or the gonadotrophin-releasing hormone receptor genes. With premature ovarian failure there is an increased risk of having a premutation of the Fragile X syndrome gene. Complex genetic inheritance may explain the variable familial links in polycystic ovary syndrome and endometriosis, but no definitive genetic pathways are as yet known. With recurrent miscarriage, genetic defects causing thrombophilias are 2-fold more likely. Chromosome abnormalities account for approximately 60% of all spontaneous abortions, and the most common type, trisomy, is closely associated with advanced maternal age. Three percent of couples have a balanced chromosome abnormality, but live birth rates are better with natural conception than with preimplantation genetic diagnosis. CONCLUSIONS: Understanding of the methods used for genetic diagnosis and research is becoming a standard requirement for the clinical practice of reproductive medicine.
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spelling oxford-uuid:b651b4c9-0001-48a5-b9ab-3a1801a4b8c82022-03-27T04:40:07ZGenetic aspects of female reproduction.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:b651b4c9-0001-48a5-b9ab-3a1801a4b8c8EnglishSymplectic Elements at Oxford2008ESHRE Capri Workshop Group BACKGROUND: Sexual reproduction provides the means for preserving genetic identity and in turn, genetic variability may affect the ability to reproduce. This review aims to summarize current research on genetic diagnosis and genetic causes of reproductive disorders. METHODS: Searches were done by subject in Medline and other databases, and each subject summary was presented to the Workshop Group and omissions or disagreements were resolved by discussion. RESULTS: Single-gene defects are most likely to be found among patients with hypogonadotropic hypogonadism, which may be due to defects in the KAL genes or the gonadotrophin-releasing hormone receptor genes. With premature ovarian failure there is an increased risk of having a premutation of the Fragile X syndrome gene. Complex genetic inheritance may explain the variable familial links in polycystic ovary syndrome and endometriosis, but no definitive genetic pathways are as yet known. With recurrent miscarriage, genetic defects causing thrombophilias are 2-fold more likely. Chromosome abnormalities account for approximately 60% of all spontaneous abortions, and the most common type, trisomy, is closely associated with advanced maternal age. Three percent of couples have a balanced chromosome abnormality, but live birth rates are better with natural conception than with preimplantation genetic diagnosis. CONCLUSIONS: Understanding of the methods used for genetic diagnosis and research is becoming a standard requirement for the clinical practice of reproductive medicine.
spellingShingle ESHRE Capri Workshop Group
Genetic aspects of female reproduction.
title Genetic aspects of female reproduction.
title_full Genetic aspects of female reproduction.
title_fullStr Genetic aspects of female reproduction.
title_full_unstemmed Genetic aspects of female reproduction.
title_short Genetic aspects of female reproduction.
title_sort genetic aspects of female reproduction
work_keys_str_mv AT eshrecapriworkshopgroup geneticaspectsoffemalereproduction