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Genetic aspects of female reproduction

Collins, J ; Diedrich, K ; Franks, S ; Geraedts, JPM ; Jacobs, PA ; Karges, B ; Kennedy, S ; Marozzi, A ; Regan, L ; Baird, DT ; Crosignani, PG ; Devroey, P ; Diczfalusy, E ; Evers, JLH ; Fauser, BCJM ; Fraser, L ; Gianaroli, L ; Glasier, A ; Liebaers, I ; Ragni, G ; Sunde, A ; Tarlatzis, B ; Van Steirteghem, A

Human reproduction update, 2008-07, Vol.14 (4), p.293-307 [Periódico revisado por pares]

England: Oxford University Press

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Título:
Genetic aspects of female reproduction
Autor: Collins, J ; Diedrich, K ; Franks, S ; Geraedts, JPM ; Jacobs, PA ; Karges, B ; Kennedy, S ; Marozzi, A ; Regan, L ; Baird, DT ; Crosignani, PG ; Devroey, P ; Diczfalusy, E ; Evers, JLH ; Fauser, BCJM ; Fraser, L ; Gianaroli, L ; Glasier, A ; Liebaers, I ; Ragni, G ; Sunde, A ; Tarlatzis, B ; Van Steirteghem, A
Assuntos: Abortion, Spontaneous - diagnosis ; Abortion, Spontaneous - genetics ; Chromosome Aberrations ; Cytogenetic Analysis - methods ; Female ; Genital Diseases, Female - diagnosis ; Genital Diseases, Female - genetics ; Genome, Human ; Humans ; hypogonadotropic hypogonadism ; Infertility, Female - diagnosis ; Infertility, Female - genetics ; Medicin och hälsovetenskap ; Molecular Diagnostic Techniques ; Mutation ; polycystic ovary syndrome ; Pregnancy ; pregnancy loss ; premature ovarian failure ; Prenatal Diagnosis ; Reproduction - genetics ; Rokitansky syndrome
É parte de: Human reproduction update, 2008-07, Vol.14 (4), p.293-307
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Descrição: 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 ∼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.
Editor: England: Oxford University Press
Idioma: Inglês

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Genetic aspects of female reproduction

England: Oxford University Press

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