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Association of Clinical Cytogeneticists chorion villus sampling database 1987-2000

Lookup NU author(s): Dr John Wolstenholme, John Emslie


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Objectives: To produce a fully searchable Microsoft® Access database of mosaic and non-mosaic cytogenetic abnormalities, detected during diagnostic chorionic villi sampling (CVS) to aid laboratories in predicting pregnancy outcome, in particular differentiating between cases of likely genuine fetal cytogenetic abnormalities and those likely to represent confined placenta! mosaicism (CPM). Methods: Retrospective collection of referral data, initial karyotype data, follow-up karyotype data and pregnancy outcome data from almost all cytogenetically abnormal diagnostic CVS, processed in UK National Health Service laboratories, between 1987 and 2000. Collection of similar data from a published series of CVS and individual case reports. Results: A fully searchable database of abnormal CVS cases, containing over 5000 entries, has been produced. This is available to download at Conclusions: Following detection of a cytogenetic abnormality during prenatal diagnosis using CVS, use of this database allows rapid access to comparable cases from the United Kingdom and the literature. This database will improve the speed of availability and quality of information available to clinicians and patients for pregnancy management and counselling purposes. The database has been designed with future data collection in mind, and can be developed for wider research use, through more detailed registries of individual chromosome abnormalities. Copyright © 2006 John Wiley & Sons, Ltd.

Publication metadata

Author(s): Wolstenholme J, Emslie JB, Connors S

Publication type: Article

Publication status: Published

Journal: Prenatal Diagnosis

Year: 2006

Volume: 26

Issue: 5

Pages: 420-427

ISSN (print): 0197-3851

ISSN (electronic): 1097-0223

Publisher: John Wiley & Sons Ltd.


DOI: 10.1002/pd.1429

PubMed id: 16532524


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