NDLI: Rate of X chromosome aneuploidy in young fertile women: Comparison of cultured and uncultured cell preparations using fluorescence in situ hybridisation.

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Rate of X chromosome aneuploidy in young fertile women: Comparison of cultured and uncultured cell preparations using fluorescence in situ hybridisation.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Patton, Kirralee Murch, Ashleigh Goldblatt, Jack Wetherall, John Doherty, Dorota Hadlow, Narelle
Description	Country affiliation: Australia Author Affiliation: Patton K ( Department of Cytogenetics, Western Diagnostic Pathology, Myaree, WA, Australia. kirralee.patton@wdp.com.au)
Abstract	BACKGROUND: X chromosome aneuploidy <10% in female patients is a routinely used reporting limit in diagnostic cytogenetics. X aneuploidy (<10%) is commonly detected in women investigated for infertility or recurrent miscarriages. It is unclear if this aneuploidy is causally relevant or related to the culture process. Information about the background rate of X aneuploidy in young fertile women would be helpful in resolving this issue. AIM: This study aimed to investigate the rate of X aneuploidy in young fertile women in cultured and uncultured samples to determine if the commonly used <10% limit is relevant. METHOD: Volunteers (aged 22-40 years) with proven fertility (n = 78) participated. The number of X chromosome signals in 500 cultured and 500 uncultured preparations were enumerated using FISH. RESULTS: Significantly, all participants had <5% X aneuploidy in both preparations, X chromosome loss occurred (2.4%) more frequently than gain (0.7%). Cultured preparations had a mean of 2.1% cells with X chromosome aneuploidy (95% CI 1.9-2.3%) compared with a mean rate of 0.9% aneuploidy in uncultured preparations (95% CI 0.7-1.1%). The relative risk for cultured preparations having X aneuploidy compared with uncultured cells was 2.33 (P < 0.001) (95% CI 2.1-2.6). CONCLUSION: Young fertile women had <5% X aneuploidy. The rate of X aneuploidy was higher in cultured (2.1%) compared with uncultured (0.9%) preparations (P < 0.001). This data may provide useful background information when considering low level X aneuploidy in other groups of women with clinical indications for karyotype.
File Format	HTM / HTML
ISSN	00048666
Issue Number	4
Volume Number	50
e-ISSN	1479828X
Journal	Australian and New Zealand Journal of Obstetrics and Gynaecology
Language	English
Publisher	Wiley
Publisher Date	2010-08-01
Publisher Place	Australia
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Obstetrics Discipline Gynecology Aneuploidy Blood Cells Cytology Chromosomes, Human, X Genetics Adult Cell Nucleus Cells, Cultured Female Fertility Humans In Situ Hybridization, Fluorescence Interphase Poisson Distribution Reference Values Statistics, Nonparametric Young Adult Comparative Study Journal Article
Content Type	Text
Resource Type	Article
Subject	Obstetrics and Gynecology

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