OBJECTIVE: To investigate the role of first trimester sonography in detecting chromosomal abnormalities in an unselected obstetric population. METHODS: 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. RESULTS: 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%). CONCLUSIONS: 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 measurement of nuchal translucency with detailed examination of fetal anatomy.
OBJECTIVE: To investigate the role of first trimester sonography in detecting chromosomal abnormalities in an unselected obstetric population. METHODS: 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. RESULTS: 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%). CONCLUSIONS: 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 measurement of nuchal translucency with detailed examination of fetal anatomy.
Authors: S Kate Alldred; Yemisi Takwoingi; Boliang Guo; Mary Pennant; Jonathan J Deeks; James P Neilson; Zarko Alfirevic Journal: Cochrane Database Syst Rev Date: 2017-03-15
Authors: S Kate Alldred; Yemisi Takwoingi; Boliang Guo; Mary Pennant; Jonathan J Deeks; James P Neilson; Zarko Alfirevic Journal: Cochrane Database Syst Rev Date: 2017-03-15
Authors: Betül Yakıştıran; Orhan Altınboğa; Emre Canpolat; Esra Şükran Çakar; Şevki Çelen; Ali Turhan Çağlar; Yaprak Engin Üstün Journal: J Turk Ger Gynecol Assoc Date: 2019-07-12
Authors: S Kate Alldred; Yemisi Takwoingi; Boliang Guo; Mary Pennant; Jonathan J Deeks; James P Neilson; Zarko Alfirevic Journal: Cochrane Database Syst Rev Date: 2015-11-30
Authors: S Kate Alldred; Boliang Guo; Yemisi Takwoingi; Mary Pennant; Susanna Wisniewski; Jonathan J Deeks; James P Neilson; Zarko Alfirevic Journal: Cochrane Database Syst Rev Date: 2015-12-10