Molecular cytogenetics in prenatal diagnosis

textabstractPrenatal diagnosis (PD) startcd in the fifties when variotls groups indicated the possibility of prenatal sex determination in amniotic fluid (AF) cells (SeIT et al., 1955; Fuchs and Riis, 1956; Dewhurst, 1956). After the first succesful attempts at AF cell cultivation and karyotyping by SteeIe and Breg (1966) and T1tiede et al. (1966), the first small series of prcnatal chromosomc analyses were presented (Jacobsoll aud Barter, 1967), aud the ficst chromosome aberrations in cultured AF cells were detected (Valenti et al., 1969). AF cells could also be used for prenatal detcction of inham errors of metabolism (NadIer, 1968). Our eentre made an important international contribution towards experienee with a large number of biochemical assays, and the devclopment of ultramicrochemical techlliques penllitting a rapid PD (Galjaard, 1972; Niermeijer, 1975; Galjaard, 1976a, 1979, 1980; Galjaard et al., 1977; K1eijer, 1990). AtlOther important contribution to PD was the finding by Broek and Sutcliffe (1972), that the alpha-fetoprotein level in AF is increascd when the fetus has an open neural tube defect