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Clinical consequences of an increasing trend of preferential use of cultured villi for molecular diagnosis by CVS
Author(s) -
AinaMumuney Abimbola,
Wood Elizabeth D.,
Corson Virginia L.,
Stetten Gail,
Jari Shama,
Boehm Corinne D.,
Blakemore Karin J.
Publication year - 2008
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1953
Subject(s) - chorionic villi , prenatal diagnosis , chorionic villus sampling , dna extraction , obstetrics , gestational age , sampling (signal processing) , medicine , pregnancy , retrospective cohort study , biology , fetus , andrology , polymerase chain reaction , pathology , genetics , gene , filter (signal processing) , computer science , computer vision
Objective To compare the use of uncultured versus cultured villus cells for DNA‐based prenatal diagnosis. Methods A retrospective review of molecular testing of chorionic villus sampling (CVS) cases from 1988–2007. Method of analysis, gestational age (GA) at CVS and at diagnosis, time from procedure to results, results of maternal contamination studies, and the laboratory employed were abstracted from patient charts. Trends in laboratory practices over time were analyzed. Results Time from CVS to diagnosis was longer when cultured cells were used. Average GA at diagnosis was 14‐6/7 weeks with cultured cells vs 13‐0/7 weeks with uncultured villi ( p < 0.001). Recently, laboratories are more frequently requiring cultured cells, resulting in significantly greater delays in time to diagnosis and GA at results. Conclusions ‘Direct’ DNA extraction saves 2 weeks from CVS to results. More women are afforded the option of an earlier, safer pregnancy termination if uncultured villi are used for molecular diagnosis. Implementation of standardized DNA extraction protocols and sample‐size requirements can optimize the use of uncultured villi for molecular prenatal diagnosis. Increased awareness of the importance of rapid results and the advantages of ‘direct’ DNA extraction from uncultured villi can lead to improvements that are of clinical significance for patients undergoing early prenatal diagnosis. Copyright © 2008 John Wiley & Sons, Ltd.