Prenatal detection of trisomy 9 mosaicism

S. Schwartz, Shaukat A. Ashai, E. J. Meijboom, M. F. Schwartz, C. C J Sun, M. M. Cohen

Research output: Contribution to journalArticle

Abstract

Chromosomal mosaicism in amniotic fluid cells poses a serious dilemma in prenatal diagnosis since the observation may represent: (1) pseudomosaicism - an inconsequential tissue culture artefact; or (2) true mosaicism - occurring in approximately 0.20 per cent of amniocenteses with a significant impact on pregnancy outcome. Mosaicism for trisomy 9 was observed in an amniotic fluid specimen obtained for advanced maternal age with two cell lines [46,XX (46 per cent)/47,XX,+9 (54 per cent)] present in each of four culture flasks. Since more than 75 per cent of newborns with trisomy 9 mosaicism have complex cardiac malformations, a fetal echocardiogram was obtained at 20 weeks' gestation and interpreted as normal. A fetal blood sample (22 weeks' gestation) disclosed only a single trisomy 9 cell among the 100 metaphases analysed. However, a second fetal echocardiogram performed at the time of blood sampling suggested a non-specific cardiac anomaly. Fetal autopsy following elective pregnancy termination revealed several malformations including severe micrognathia, persistence of the left superior vena cava, and skeletal anomalies. Cytogenetic studies of cell cultures derived from several fetal tissues demonstrated trisomy 9 ranging from 12 to 24 per cent.

Original languageEnglish (US)
Pages (from-to)549-554
Number of pages6
JournalPrenatal Diagnosis
Volume9
Issue number8
StatePublished - 1989
Externally publishedYes

Fingerprint

Mosaicism
Amniotic Fluid
Pregnancy
Micrognathism
Superior Vena Cava
Amniocentesis
Maternal Age
Pregnancy Outcome
Metaphase
Prenatal Diagnosis
Fetal Blood
Cytogenetics
Artifacts
Autopsy
Fetus
Cell Culture Techniques
Observation
Cell Line
Trisomy mosaic Chromosome 9
Trisomy Chromosome 9

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynecology

Cite this

Schwartz, S., Ashai, S. A., Meijboom, E. J., Schwartz, M. F., Sun, C. C. J., & Cohen, M. M. (1989). Prenatal detection of trisomy 9 mosaicism. Prenatal Diagnosis, 9(8), 549-554.

Prenatal detection of trisomy 9 mosaicism. / Schwartz, S.; Ashai, Shaukat A.; Meijboom, E. J.; Schwartz, M. F.; Sun, C. C J; Cohen, M. M.

In: Prenatal Diagnosis, Vol. 9, No. 8, 1989, p. 549-554.

Research output: Contribution to journalArticle

Schwartz, S, Ashai, SA, Meijboom, EJ, Schwartz, MF, Sun, CCJ & Cohen, MM 1989, 'Prenatal detection of trisomy 9 mosaicism', Prenatal Diagnosis, vol. 9, no. 8, pp. 549-554.
Schwartz S, Ashai SA, Meijboom EJ, Schwartz MF, Sun CCJ, Cohen MM. Prenatal detection of trisomy 9 mosaicism. Prenatal Diagnosis. 1989;9(8):549-554.
Schwartz, S. ; Ashai, Shaukat A. ; Meijboom, E. J. ; Schwartz, M. F. ; Sun, C. C J ; Cohen, M. M. / Prenatal detection of trisomy 9 mosaicism. In: Prenatal Diagnosis. 1989 ; Vol. 9, No. 8. pp. 549-554.
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