The Prenatal Diagnosis of Chromosomal Disorders

  • Aubrey Milunsky


Tijo and Puck (1958) and Hayflick and Moorhead (1961) demonstrated that cells could be grown with relative ease from human tissues and that the resulting cell cultures retained the diploid chromosomal phenotype of the tissue of origin. Skin fibroblasts were shown to remain diploid throughout their extended life in tissue culture. Similar characteristics were later found to apply equally well to cultured amniotic fluid cells (Conover and Hirschhorn, 1971). The ability to determine the fetal karyotype from cultured amniotic fluid cells was achieved independently by Klinger and by Steele and Breg (1966). Valenti et al. (1969) reported the first prenatal diagnosis of Down syndrome in 1968. Experience with the prenatal diagnosis of chromosomal disorders has grown appreciably in recent years (Milunsky et al., 1970; Milunsky, 1973, 1975, 1976; Emery, 1973; Polani and Benson, 1973; Wahlström, 1973; Nadler, 1974; Burton et al., 1974; Niermeijer, 1975; Ferguson-Smith and Ferguson-Smith, 1976b; Golbus, 1976; Galjaard, 1976; Boue, 1976).


Down Syndrome Amniotic Fluid Prenatal Diagnosis Pericentric Inversion Ring Chromosome 


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Copyright information

© Aubrey Milunsky 1979

Authors and Affiliations

  • Aubrey Milunsky
    • 1
    • 2
    • 3
  1. 1.Department of PediatricsHarvard Medical SchoolBostonUSA
  2. 2.Genetics DivisionEunice Kennedy Shriver CenterWalthamUSA
  3. 3.Children’s ServiceMassachusetts General HospitalBostonUSA

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