Cytogenetic results of chorionic villus sampling: High success rate and diagnostic accuracy in the United States collaborative study

David H. Ledbetter, Alice O. Martin, Yury Verlinsky, Eugene Pergament, Laird Jackson, Teresa Yang-Feng, Steven A. Schonberg, Fred Gilbert, Julia M. Zachary, Marie Barr, Karen L. Copeland, Miriam S. DiMaio, Beth Fine, Barbara Rosinsky, Jane Schuette, Felix F. de la Cruz, Robert J. Desnick, Sherman Elias, Mitchell S. Golbus, James D. GoldbergHerbert A. Lubs, Maurice J. Mahoney, George G. Rhoads, Joe Leigh Simpson, Sarah E. Schlesselman

Research output: Contribution to journalArticlepeer-review

93 Scopus citations


Cytogenetic results of first-trimester chorionic villus sampling are reported from seven U.S. medical centers. For 6033 patients who had a successful chorionic villus sampling procedure, the rate for obtaining a cytogenetic diagnosis was 99.6% with the direct method, long-term culture, or both. There were no incorrect sex predictions and no diagnostic errors involving trisomies 21, 18, or 13, sex chromosome aneuploidies, or structural abnormalities. There were no cases of normal cytogenetic diagnosis followed by birth of a cytogenetically abnormal infant. Three cases of unusual aneuploidies (tetraploidy, trisomy 16, and trisomy 22) detected by the direct method only were not confirmed by cytogenetic follow-up. Mosaic cytogenetic abnormalities were observed in 0.83% of all cases in which chorionic villus sampling was done but were confirmed by amniocentesis or in fetal tissues in only 7 of 30 cases (23.3%). Maternal cell contamination occurred in 1.9% of long-term cultures, although this did not present any cytogenetic diagnostic difficulties. Overall, a very high degree of laboratory success and diagnostic accuracy was observed with either cytogenetic method, although fewer predictive errors were observed with the long-term culture method and none were observed when both methods were used.

Original languageEnglish (US)
Pages (from-to)495-501
Number of pages7
JournalAmerican Journal of Obstetrics and Gynecology
Issue number2
StatePublished - Feb 1990

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynecology


  • Prenatal diagnosis
  • chorionic villus sampling
  • cytogenetics
  • mosaicism


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