ABSTRACT

The first reported attempts to utilize fetal and/or placental tissue for prenatal genetic diagnosis occurred in 1 955 , when Serr et al. ( 1 ) and Fuchs and Riis (2) reported the ability to determine fetal sex through sex chromatin studies on amniotic fluid cells . Eleven years later, Steele and Breg (3) reported the successful culture of amniotic fluid cells and its use to examine fetal chro­ mosome status . The next year Jacobson and Barter (4) applied the technique to diagnose a DID translocation in a fetus . In 1 968, both Valenti et al . (5) and Nadler (6) reported the diagnosis of a fetus with Down syndrome in utero. In the same year, Nadler (6) reported the in-utero diagnosis of a fetus affected with galactosemia. Chorionic villus sampling (CVS) was first re­ ported in the late 1 960s (7). However, technical difficulties with sampling relegated the technique to obscurity until ultrasound improvements allowed for direct monitoring of the procedure. Additional improvements, such as the development of a flexible catheter for transcervical sampling and a protocol for transabdominal sampling, markedly improved the success rate of CVS sampling and the safety of the procedure. Fetal blood sam­ pling and biopsy of other fetal tissue began with fetoscopy (8) but have proven to be more successful and safer when performed under ultrasound guidance.