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

61 Citations (Scopus)

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 - 2000
Externally publishedYes

Fingerprint

Chromosomes, Human, Pair 18
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 21
Mosaicism
Trisomy
Karyotype
Phenotype
Amniocentesis
Cytogenetics
Genetic Counseling
Pregnancy Rate
Pregnancy Outcome
Down Syndrome
Fetal Blood
Cell Culture Techniques
Cell Line

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynecology

Cite this

Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21 : Karyotype-phenotype correlations. / Wallerstein, Robert; Yu, Ming Tsung; Neu, Richard L.; Benn, Peter; Bowen, Catherine Lee; Crandall, Barbara; Disteche, Christine; Donahue, Roger; Harrison, Betty; Hershey, Douglas; Higgins, Rodney R.; Jenkins, Lauren S.; Jackson-Cook, Colleen; Keitges, Elizabeth; Khodr, Gabriel; Lin, C. C.; Luthardt, Frederick W.; Meisner, Lorraine; Mengden, Gregory; Patil, Shivanand R.; Rodriguez, Maria; Sciorra, Leonard J.; Shaffer, Lisa G.; Stetten, Gail; Van Dyke, Daniel L.; Wang, Hungshu; Williams, Fran; Zaslav, Ann Leslie; Hsu, Lillian Y F.

In: Prenatal Diagnosis, Vol. 20, No. 2, 2000, p. 103-122.

Research output: Contribution to journalArticle

Wallerstein, R, Yu, MT, Neu, RL, Benn, P, Bowen, CL, Crandall, B, Disteche, C, Donahue, R, Harrison, B, Hershey, D, Higgins, RR, Jenkins, LS, Jackson-Cook, C, Keitges, E, Khodr, G, Lin, CC, Luthardt, FW, Meisner, L, Mengden, G, Patil, SR, Rodriguez, M, Sciorra, LJ, Shaffer, LG, Stetten, G, Van Dyke, DL, Wang, H, Williams, F, Zaslav, AL & Hsu, LYF 2000, 'Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: Karyotype-phenotype correlations', Prenatal Diagnosis, vol. 20, no. 2, pp. 103-122. https://doi.org/10.1002/(SICI)1097-0223(200002)20:2<103::AID-PD761>3.0.CO;2-K
Wallerstein, Robert ; Yu, Ming Tsung ; Neu, Richard L. ; Benn, Peter ; Bowen, Catherine Lee ; Crandall, Barbara ; Disteche, Christine ; Donahue, Roger ; Harrison, Betty ; Hershey, Douglas ; Higgins, Rodney R. ; Jenkins, Lauren S. ; Jackson-Cook, Colleen ; Keitges, Elizabeth ; Khodr, Gabriel ; Lin, C. C. ; Luthardt, Frederick W. ; Meisner, Lorraine ; Mengden, Gregory ; Patil, Shivanand R. ; Rodriguez, Maria ; Sciorra, Leonard J. ; Shaffer, Lisa G. ; Stetten, Gail ; Van Dyke, Daniel L. ; Wang, Hungshu ; Williams, Fran ; Zaslav, Ann Leslie ; Hsu, Lillian Y F. / Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21 : Karyotype-phenotype correlations. In: Prenatal Diagnosis. 2000 ; Vol. 20, No. 2. pp. 103-122.
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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.",
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author = "Robert Wallerstein and Yu, {Ming Tsung} and Neu, {Richard L.} and Peter Benn and Bowen, {Catherine Lee} and Barbara Crandall and Christine Disteche and Roger Donahue and Betty Harrison and Douglas Hershey and Higgins, {Rodney R.} and Jenkins, {Lauren S.} and Colleen Jackson-Cook and Elizabeth Keitges and Gabriel Khodr and Lin, {C. C.} and Luthardt, {Frederick W.} and Lorraine Meisner and Gregory Mengden and Patil, {Shivanand R.} and Maria Rodriguez and Sciorra, {Leonard J.} and Shaffer, {Lisa G.} and Gail Stetten and {Van Dyke}, {Daniel L.} and Hungshu Wang and Fran Williams and Zaslav, {Ann Leslie} and Hsu, {Lillian Y F}",
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TY - JOUR

T1 - Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21

T2 - Karyotype-phenotype correlations

AU - Wallerstein, Robert

AU - Yu, Ming Tsung

AU - Neu, Richard L.

AU - Benn, Peter

AU - Bowen, Catherine Lee

AU - Crandall, Barbara

AU - Disteche, Christine

AU - Donahue, Roger

AU - Harrison, Betty

AU - Hershey, Douglas

AU - Higgins, Rodney R.

AU - Jenkins, Lauren S.

AU - Jackson-Cook, Colleen

AU - Keitges, Elizabeth

AU - Khodr, Gabriel

AU - Lin, C. C.

AU - Luthardt, Frederick W.

AU - Meisner, Lorraine

AU - Mengden, Gregory

AU - Patil, Shivanand R.

AU - Rodriguez, Maria

AU - Sciorra, Leonard J.

AU - Shaffer, Lisa G.

AU - Stetten, Gail

AU - Van Dyke, Daniel L.

AU - Wang, Hungshu

AU - Williams, Fran

AU - Zaslav, Ann Leslie

AU - Hsu, Lillian Y F

PY - 2000

Y1 - 2000

N2 - 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.

AB - 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.

KW - Amniocytes

KW - Chromosomes 13, 18, 20, and 21

KW - Mosaicism

KW - Prenatal diagnosis

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