Clinical consequences of an increasing trend of preferential use of cultured villi for molecular diagnosis by CVS

Abimbola Aina-Mumuney, Elizabeth D. Wood, Virginia L. Corson, Gail Stetten, Shama Jari, Corinne D. Boehm, Karin J. Blakemore

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Pages (from-to)332-334
Number of pages3
JournalPrenatal Diagnosis
Volume28
Issue number4
DOIs
StatePublished - Apr 1 2008

Keywords

  • Chorionic villus sampling
  • Cultured villi
  • Molecular diagnosis
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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