First trimester sonographic detection of chromosomal abnormalities in an unselected population

British Journal of Obstetrics and Gynaecology
D L EconomidesS M Verdin

Abstract

To investigate the role of first trimester sonography in detecting chromosomal abnormalities in an unselected obstetric population. 2281 women (mean maternal age 30 years [range 16-47]; mean gestational age 12(+3) weeks [range 11-14]) underwent transabdominal scanning to assess fetal structure and, if anatomical survey was considered to be incomplete (31% of cases), transvaginal sonography was also performed. Measurement of nuchal translucency was included and karyotyping performed as considered appropriate. There were 16 chromosomal abnormalities; 13 (81%) were diagnosed at 11-14 weeks either because of a nuchal translucency greater than or equal to the 99th centile for gestational age (7/16; 44% [95% CI 25-63]) or due to the presence of structural abnormalities (6/16; 38% [95% CI 14.2-61.8]). Seventy-five percent of cases of trisomy 21 were also diagnosed either because of having a nuchal translucency greater than or equal to the 99th centile (5/8; 63%) or due to the presence of a structural abnormality (1/8; 13%). A significant proportion of fetal chromosomal abnormalities can be detected by first trimester sonographic screening to assess fetal structural appearance. The sensitivity of detection can be improved by combining ...Continue Reading

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