Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: Karyotype-phenotype correlations

Robert Wallerstein, Ming Tsung Yu, Richard L. Neu, Peter Benn, Catherine Lee Bowen, Barbara Crandall, Christine Disteche, Roger Donahue, Betty Harrison, Douglas Hershey, Rodney R. Higgins, Lauren S. Jenkins, Colleen Jackson-Cook, Elizabeth Keitges, Gabriel Khodr, C. C. Lin, Frederick W. Luthardt, Lorraine Meisner, Gregory Mengden, Shivanand R. PatilMaria Rodriguez, Leonard J. Sciorra, Lisa G. Shaffer, Gail Stetten, Daniel L. Van Dyke, Hungshu Wang, Fran Williams, Ann Leslie Zaslav, Lillian Y.F. Hsu

Research output: Contribution to journalArticle

Abstract

Karyotype-phenotype correlations of common trisomy mosaicism prenatally diagnosed via amniocentesis was reviewed in 305 new cases from a collaboration of North American cytogenetic laboratories. Abnormal outcome was noted in 10/25 (40%) cases of 47, + 13/46, 17/31 (54%) cases of 47, + 18/46, 10/152 (6.5%) cases of 47, + 20/46, and in 49/97 (50%) cases of 47, + 21/46 mosaicism. Risk of abnormal outcome in pregnancies with less than 50% trisomic cells and greater than 50% trisomic cells were: 26% (4/15) versus 60% (6/10) for 47, + 13/46, 52% (11/21) versus 75% (6/8) for 47. + 18/46, 4.5% (6/132) versus 20% (4/20) 47, + 20/46, and 45% (27/60) versus 59% (22/37) for 47, + 21/46. Phenotypically normal liveborns were observed with mean trisomic cell lines of 9.3% for 47, + 13/46, 8.6% for 47, + 18/46, 27% for 47, + 20/46, and 17% for 47, + 21/46. Cytogenetic confirmation rates were 46% (6/13 cases) for 47,+ 13/46 mosaicism, 66% (8/12 cases) for 47, + 18/46, 10% (10/97 cases) for 47, + 20/46, and 44% (24/54 cases) for 47, + 21/46. There were higher confirmation rates in pregnancies with abnormal versus normal outcome: 50% versus 44% for 47, + 13/46 mosaicism, 100% versus 33% for 47,+ 18/46, 66% versus 7% for 47,+ 20/46, and 55% versus 40% for 47, + 21/46. Repeat amniocentesis is not helpful in predicting clinical outcome. It may be considered when there is insufficient number of cells or cultures to establish a diagnosis. Fetal blood sampling may have a role in mosaic trisomy 13, 18, and 21 as the risk for abnormal outcome increases with positive confirmation: 1/5 (20%) normal cases versus 5/8 (62%) abnormal cases. High resolution ultrasound examination(s) is recommended for clinical correlation and to facilitate genetic counselling. Copyright (C) 2000 John Wiley and Sons, Ltd.

Original languageEnglish (US)
Pages (from-to)103-122
Number of pages20
JournalPrenatal Diagnosis
Volume20
Issue number2
DOIs
StatePublished - Mar 1 2000

Keywords

  • Amniocytes
  • Chromosomes 13, 18, 20, and 21
  • Mosaicism
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Genetics(clinical)

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    Wallerstein, R., Yu, M. T., Neu, R. L., Benn, P., Bowen, C. L., Crandall, B., Disteche, C., Donahue, R., Harrison, B., Hershey, D., Higgins, R. R., Jenkins, L. S., Jackson-Cook, C., Keitges, E., Khodr, G., Lin, C. C., Luthardt, F. W., Meisner, L., Mengden, G., ... Hsu, L. Y. F. (2000). Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: Karyotype-phenotype correlations. Prenatal Diagnosis, 20(2), 103-122. https://doi.org/10.1002/(SICI)1097-0223(200002)20:2<103::AID-PD761>3.0.CO;2-K