The use of second-trimester genetic sonogram in guiding clinical management of patients at increased risk for fetal trisomy 21

摘要: Objective To test the efficacy of ultrasound in detecting fetuses with trisomy 21. Methods From November 1, 1992, to December 31, 1995, a second-trimester genetic sonogram was offered all women singleton at increased risk (at least 1:274) for 21, who had either declined amniocentesis or chose have before deciding whether undergo an amniocentesis. In addition standard fetal biometry, following markers aneuploidy were evaluated: structural anomalies (including face, hands, and cardiac [four-chamber view outflow tracts]), short femur, humerus, pyelectasis, nuchal fold thickening, echogenic bowel, choroid plexus cysts, hypoplastic middle phalanx fifth digit, wide space between first second toes, two-vessel umbilical cord. Outcome information included results amniocentesis, if performed, postnatal pediatric assessment follow-up. Results Five hundred seventy-three patients 15 23 weeks' gestation: 378 advanced maternal age 35 years), 141 abnormal serum biochemistry, 54 both. The majority (495, 86.3%) normal (absence markers); 51 (9%) one marker present, 27 (4.7%) two more present. obtained on 422 (the remaining ongoing pregnancies lost follow-up). Twelve 14 fetus 13, triploidy present; 21 completely ultrasound. When sensitivity, specificity, positive negative predictive values 92.8%, 86.7%, 19.4%, 99.7%, respectively. corresponding 85.7%, 96.8%, 48%, 99.5%. study population, rate 12.7% overall 17.3% cases known outcome. Conclusion Second-trimester may be reasonable alternative wish avoid experienced this approach result high detection (93%), less than 20%.