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Genetic aspects of female reproduction

Collins, J., Diedrich, K., Franks, S., Geraedts, J.P.M., Jacobs, P.A., Karges, B., Kennedy, S., Marozzi, A., Regan, L., Baird, D.T., Crosignani, P.G., Devroey, P., Diczfalusy, E., Evers, J.L.H., Fauser, B.C.J.M., Fraser, L., Gianaroli, L., Glasier, A., Liebaers, I., Ragni, G., Sunde, A., Tarlatzis, B., Van Steirteghem, A. and The ESHRE Capri Workshop Group, None The ESHRE Capri Workshop Group (2008) Genetic aspects of female reproduction Human Reproduction Update, 14, (4), pp. 293-307. (doi:10.1093/humupd/dmn009).

Record type: Article


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 similar to 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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Published date: July 2008
Keywords: netherlands, syndrome, fragile x syndrome, kallmann-syndrome, in-vitro fertilization, hypogonadotropic hypogonadism, structural aberrations, birth, uterine leiomyoma, abnormalities, abortion, polycystic ovary syndrome, research, eshre pgd consortium, medline, patients, trisomy, polycystic-ovary, sweden, affect, endometriosis, ovary, genes, risk, maternal age, female, scotland, databases, london, family, idiopathic hypogonadotropic hypogonadism, belgium, premature ovarian failure, methods, norway, reproduction, review, england, rokitansky syndrome, italy, hypogonadism, germany, recurrent pregnancy loss, diagnosis, time, pregnancy loss, methylenetetrahydrofolate reductase c677t


Local EPrints ID: 59597
ISSN: 1355-4786
PURE UUID: 9037410b-c291-463d-9328-ea6479a78000

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Date deposited: 08 Sep 2008
Last modified: 17 Jul 2017 14:24

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Author: J. Collins
Author: K. Diedrich
Author: S. Franks
Author: J.P.M. Geraedts
Author: P.A. Jacobs
Author: B. Karges
Author: S. Kennedy
Author: A. Marozzi
Author: L. Regan
Author: D.T. Baird
Author: P.G. Crosignani
Author: P. Devroey
Author: E. Diczfalusy
Author: J.L.H. Evers
Author: B.C.J.M. Fauser
Author: L. Fraser
Author: L. Gianaroli
Author: A. Glasier
Author: I. Liebaers
Author: G. Ragni
Author: A. Sunde
Author: B. Tarlatzis
Author: A. Van Steirteghem
Author: None The ESHRE Capri Workshop Group

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