Economides D L, Whitlow B J, Kadir R, Lazanakis M, Verdin S M
University Department of Obstetrics and Gynaecology, Royal Free Hospital, London, UK.
Br J Obstet Gynaecol. 1998 Jan;105(1):58-62. doi: 10.1111/j.1471-0528.1998.tb09351.x.
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 measurement of nuchal translucency with detailed examination of fetal anatomy.
探讨孕早期超声检查在未选择的产科人群中检测染色体异常的作用。
2281名妇女（平均母亲年龄30岁[范围16 - 47岁]；平均孕周12（+3）周[范围11 - 14周]）接受经腹超声扫描以评估胎儿结构，若认为解剖学检查不完整（31%的病例），则还进行经阴道超声检查。包括测量颈部透明带，并在认为适当时进行核型分析。
共有16例染色体异常；13例（81%）在11 - 14周时被诊断出来，其中7例（16例中的44%[95%可信区间25 - 63]）是因为颈部透明带大于或等于相应孕周的第99百分位数，6例（16例中的38%[95%可信区间14.2 - 61.8]）是由于存在结构异常。21三体综合征病例的75%也是由于颈部透明带大于或等于第99百分位数（8例中的5例；63%）或存在结构异常（8例中的1例；13%）而被诊断出来。
通过孕早期超声筛查评估胎儿结构外观可检测出相当比例的胎儿染色体异常。将颈部透明带测量与胎儿解剖结构的详细检查相结合可提高检测的敏感性。
