Errors of prenatal cytogenetic diagnosis

K. Paul Katayama, I. James Park, Richard H. Heller, Bassam Y. Barakat, Ellen Preston, Howard W. Jones

Research output: Contribution to journalArticlepeer-review

6 Scopus citations


Since the inception of the Prenatal Diagnostic Center of the Johns Hopkins Hospital in 1969, 156 pregnancies have been monitored with cyto-genetic studies of cultured amniotic fluid cells. In 151 cases, the prenatal diagnoses wive consistent with the phenotypic features of the abortus or infant. In 2 cases there was a discrepancy between prenatal and postnatal cytogenetic findings. In J. a normal male karyotype, 46,XY, was obtained prenatally, and a female infant with Down's syndrome showing 17.XX, G21 was delivered. In the other, a mosaic, 46XX 17,XX,+C, was noted in the primary culture of the amniotic fluid ceils and a normal female with only a 46.XX cell line was born. Possible sources of these errors are considered.

Original languageEnglish (US)
Pages (from-to)693, 698
JournalObstetrics and gynecology
Issue number5
StatePublished - Nov 1974

ASJC Scopus subject areas

  • Obstetrics and Gynecology


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