DIAGNOSI PRENATALE E ANOMALIE CROMOSOMICHE; 341 CASI ANALIZZATI PRESSO L'ISTITUTO 'G. GASLINI'

Translated title of the contribution: Prenatal diagnosis and chromosomal anomalies: 341 cases examined at the Giannina Gaslini Institute

G. Gimelli, C. Cuoco, R. Penna, S. Milone

Research output: Contribution to journalArticlepeer-review

Abstract

At present prenatal diagnosis is one of the most important means for checking chromosomal abnormalities, metabolic disorders, neural tube defects and hemoglobinopathies. 341 Cases of prenatal diagnosis (7 chromosomal anomalies, 4 cases of trisomy 21, 2 cases of trisomy 18, and one case of XXY, and 2 cases of anaencephalus), performed from January 1976 to October 1978, at the 2nd Laboratory of Chemical-Clinical Analysis and Microbiology of the Gaslini Institute, have been examined. Results are discussed, and emphasis is placed on diagnostic difficulties; indications on methods suitable to avoid them are given. Main indications for prenatal diagnosis are illustrated; the authors found that the majority (6 out of 7) of children with chromosomal abnormalities was born to mothers aged 35 or more. In regard to technical problems of fetal chromosome analysis, the two most important hazards are the growth of maternal cells, and the occurrence of chromosome aberrations in culture.

Translated title of the contributionPrenatal diagnosis and chromosomal anomalies: 341 cases examined at the Giannina Gaslini Institute
Original languageItalian
Pages (from-to)12-16
Number of pages5
JournalGaslini
Volume11
Issue number1
Publication statusPublished - 1979

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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