First trimester sonographic detection of chromosomal abnormalities in an unselected population

摘要: Objective To investigate the role of first trimester sonography in detecting chromosomal abnormalities an unselected obstetric population. Methods 2281 women (mean maternal age 30 years [range 16-47]; mean gestational 12+3 weeks 11-14]) underwent transabdominal scanning to assess fetal structure and, if anatomical survey was considered be incomplete (31% cases), transvaginal also performed. Measurement nuchal translucency included and karyotyping performed as appropriate. Results There were 16 abnormalities; 13 (81%) diagnosed at 11-14 either because a greater than or equal 99th centile for (7/16; 44% [95% CI 25-63]) due presence structural (6/16; 38% [95%CI 14.2–61.81). Seventy-five percent cases trisomy 21 having (5/8; 63%) abnormality (1/8; 13%). Conclusions A significant proportion can detected by sonographic screening appearance. The sensitivity detection improved combining measurement with detailed examination anatomy.