Association of Clinical Cytogeneticists chorion villus sampling database 1987-2000.
OBJECTIVE
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 placental 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 http://www.ncl.ac.uk/cvs/.


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.
Cytogenetic Laboratory, Northern Genetics Service, Institute of Human Genetics, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK. john.wolstenhome@ncl.ac.uk
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Wolstenholme
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JB
Emslie
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Connors
D015193:Chorionic Villi Sampling / Q000706:statistics & numerical data*; D030541:Databases, Genetic / Q000706:statistics & numerical data*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism / Q000706:statistics & numerical data*; D011237:Predictive Value of Tests; D011247:Pregnancy; D011256:Pregnancy Outcome / Q000453:epidemiology*; D012189:Retrospective Studies; D012955:Societies, Medical; D012984:Software