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, The ESHRE Capri Workshop Group (2008) Genetic aspects of female reproduction. Human Reproduction Update, 14, (4), 293-307. (doi:10.1093/humupd/dmn009).


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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.

Item Type: Article
Digital Object Identifier (DOI): doi:10.1093/humupd/dmn009
ISSNs: 1355-4786 (print)
Related URLs:
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
Subjects: R Medicine > RB Pathology
R Medicine > RG Gynecology and obstetrics
Q Science > QH Natural history > QH426 Genetics
Divisions : University Structure - Pre August 2011 > School of Medicine
ePrint ID: 59597
Accepted Date and Publication Date:
July 2008Published
Date Deposited: 08 Sep 2008
Last Modified: 31 Mar 2016 12:41

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