Prenatal cytogenetics

Abstract

Amniocentesis, the transabdominal or transcervical puncture of the uterus for the purpose of removing amniotic fluid, has been practiced since the 1930s (Menees et al., Am J Roentgen 24:363-366, 1930). It was used in the early 1950s in the prenatal evaluation of Rh sensitization (Bevis and Manc, Lancet 21(4):395-398, 1952). A key event that laid the foundation for prenatal cytogenetic analysis was the discovery of the ability to determine gender on the basis of the incidence of the sex chromatin body observed in the nuclei of oral mucosa smears (Marberger et al., Proc Soc Exp Biol Med 89:488, 1955; Barr, Anat Rec 121:387, 1955). In 1956, James described the use of amniotic fl uid sediment to determine fetal sex by Papanicolaou and Giemsa stains, and Fuchs and Riis (Fuchs and Riis, Nature 177:330, 1956) showed in amniotic fluid of term pregnancies that they could accurately determine the fetal sex in 20 of 21 cases.