Prenatal diagnosis by minimally invasive first-trimester transcervical sampling is unreliable

Byline: Timothy G. Overton, Antony D. Lighten, Nicholas M. Fisk, Phillip R. Bennett Keywords: Fetal cells; transcervical; polymerase chain reaction; fluorescence in situ hybridization; prenatal diagnosis Abstract: OBJECTIVE: We investigated whether reliable prenatal diagnosis is possible from fetal cells harvested transcervically in first-trimester pregnancies. STUDY DESIGN: Fetal cells were obtained transcervically from 87 women undergoing pregnancy termination. Fetal gender was determined in 51 pregnancies with three different polymerase chain reaction techniques and in 36 pregnancies with fluorescent in situ hybridization. In known male pregnancies the number of male fetal cells present was also determined. RESULTS: Polymerase chain reaction detected male deoxyribonucleic acid in up to 79% of cases in male pregnancies and up to 45% of cases in female pregnancies. Fetal gender was correctly predicted in up to 72% of cases with fluorescent in situ hybridization. However, fetal cells were identified in Author Affiliation: London, United Kingdom Article History: Received 3 October 1995; Revised 2 November 1995; Accepted 29 January 1996 Article Note: (footnote) [star] From the Royal Postgraduate Medical School, Institute of Obstetrics and Gynaecology, Queen Charlotte's and Chelsea Hospital., [star][star] Supported by grants from Action Research., a Reprint requests: T.G. Overton, MB, BS, Royal Postgraduate Medical School, Institute of Obstetrics and Gynaecology, Queen Charlotte's and Chelsea Hospital, Goldhawk Road, London, United Kingdom W6 OXG., aa 0002-9378/96 $5.00 + 0 6/1/72364