Clinical consequences of an increasing trend of preferential use of cultured villi for molecular diagnosis by CVS.
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.
Aina-Mumuney
Abimbola
A
The Johns Hopkins University School of Medicine, Department of Gynecology/Obstetrics, Baltimore, Maryland 21287, USA. aaina1@jhmi.edu
Wood
Elizabeth D
ED
Corson
Virginia L
VL
Stetten
Gail
G
Jari
Shama
S
Boehm
Corinne D
CD
Blakemore
Karin J
KJ
D016477:Artifacts; D018929:Cell Culture Techniques; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000502:physiology*; D015193:Chorionic Villi Sampling / Q000379:methods; D003951:Diagnostic Errors / Q000706:statistics & numerical data; D005260:Female; D005820:Genetic Testing / Q000379:methods / Q000639:trends*; D005865:Gestational Age; D006801:Humans; D008431:Maternal-Fetal Exchange / Q000502:physiology; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000639:trends*; D012189:Retrospective Studies