In the early fifties, prenatal investigation of amniotic fluid started with the evaluation of Rhesus sensitization (Bevis, 1950, 1952). It was followed by the discovery that fetal gender could be determined by the presence or absence of a sex chromatin body in the nuclei of cells in the amniotic fluid (Fuchs and Riis, 1956). In 1966, Steele and Breg demonstrated the possibility of culturing and karyotyping viabie amniotic fluid ceUs, rnainly of epithelial origin. Further progress was made with the refinernent of the technique and timing of arnniocentesis (Thiede et al., 1966; Jacobson and Barter, 1967), and the first prenatal diagnosis of Down syndrome (Valenti et al., 1968). Other important developments, in the same period, were the use of amniocentesis for the prenatal detection of biochemical abnormalities (Nadier and Gerbie, 1968), the development of ultramicrochemical techniques for rapid prenatal biochemical diagnosis (Galjaard et al., 1972, 1977, 1980; Niermeijer et al., 1975), and the finding of an association between a raised concentration of alpha-fetoprotein in arnniotic fluid and an open neural tube defect of the fetus (Brock and Sutcliffe, 1972). Cytogenetic investigations were improved by the discovery of the G-banding technique (Seabright, 1971). For almost fifteen years alnniocentesis was the only procedure for prenatal investigations. At the end of the eighties, more than a quarter of a million amniocenteses had been performed and the nurnber to date is probably in the rniilions. Nowadays, the safety of second trimester arnniocentesis together with the reliability, accuracy and efficiency is weil recognized; it is generally considered as the " gold standard".

arnniocentesis, prenatal cytogenetics
H. Galjaard (Hans)
Erasmus University Rotterdam
Applied Imaging International Ltd, Carl Zeiss b.v., Dijkstra Vereenigde b.v.
Erasmus MC: University Medical Center Rotterdam

van den Berg, C.D.F. (2002, January 9). Quality and ReHability of Prenatal Cytogenetics. Erasmus University Rotterdam. Retrieved from