Transabdominal chorionic villus sampling for first-trimester prenatal diagnosis

We report here our technique and initial experience with transabdominal chorionic villus sampling for first-trimester prenatal diagnosis at the University of Tennessee, Memphis. Eighty-seven patients underwent transabdominal chorionic villus sampling between 9 and 12 menstrual weeks of pregnancy. Sufficient chorionic villi (≥5 mg) were obtained from 83 of the 87 patients (95.4%); in 73 (88%) of the 83 successful samplings only a single needle passage was required. In one case a 47,XX, +21 complement was diagnosed; the patient elected to terminate the pregnancy and the diagnosis was confirmed in the abortus. In a second case a 46,XX,rcp(15;21)(p11;q21) woman had a fetus who also had the same balanced translocation. In a third case nonmosaic 47,XX, +16 was detected in both direct preparations of cytotrophoblast cells and cultured mesenchymal core cells. Amniocentesis performed at 15 weeks showed a normal 46,XX complement. The pregnancy continued, and the patient was delivered at term of a healthy female infant. Two spontaneous fetal losses occurred in this series, and one woman underwent an elective abortion after receiving the results of a 46,XX complement. To date, 39 of the women have been delivered and all infants are doing well; the remaining 44 pregnancies are continuing uneventfully. We conclude that transabdominal chorionic villus sampling can be a useful altermative to transcervical chorionic villus sampling, particularly when transcervical sampling is contraindicated (e.g., active genital herpes) or where the transcervical approach would be technically difficult.