早孕期超声筛查胎儿畸形的诊断价值

目的评估早孕期超声检查对胎儿畸形的诊断价值。方法研究对象为2009年1月至2011年6月行早孕期胎儿超声检查的孕妇共1031例,其中双胎54例,共1085例胎儿,追踪其妊娠结局。测量并记录以下超声指标:颈项透明带厚度(Nuchal translucency,NT)、鼻骨长度、静脉导管血流频谱、三尖瓣血流频谱,仔细观察胎儿头颅、四肢、心脏、胃泡等结构。严重异常胎儿按照父母意愿选择是否终止妊娠。余病例继续妊娠,行中孕期系统超声筛查并追踪其妊娠结局。结果早孕期超声检查共检出胎儿异常72例(6.6%,72/1085),其中严重胎儿畸形40例(55.6%,40/72),包括胎儿水肿17例、露脑畸形4例、羊膜带综合征4例、脐膨出3例、巨膀胱2例、致死性骨发育不良2例、多发畸形8例;其余32例(44.4%,32/72)为超声软指标异常。1045例继续妊娠的胎儿行中孕期超声筛查,共检出胎儿异常55例(5.3%,55/1045),其中心脏畸形12例、泌尿系统异常11例、面部异常8例、肢体异常7例、中枢神经系统异常7例、其他异常10例。结论早孕期超声筛查可检出部分严重的、早期发生的胎儿异常,但仍不能替代中孕期胎儿超声筛查。

Diagnostic value of first trimester screening for detecting congenital abnormalities

Objective To evaluate the value of first trimester screening with ultrasound in the detection of congenital abnormalities. Methods 1031 pregnant women undergoing first trimester screening with ultrasound from Jan. 2009 to June 2011 were enrolled in this study, a total of 1085 fetuses, including 54 twins. The pregnancy outcome was recorded. The ultrasound markers were documented in the first trimester screening, including nuchal translucency, nasal bone, the Doppler waveform of ductus venous and tricuspid valve. The fetal organs were carefully screened, including skull, limbs, heart, and stomach. The fetuses with major abnormalities were terminated according the choice of the parents after consultation. Results Among the 1085 fetuses, 72 fetuses (6.6%, 72/1085) were detected with abnormalities in the first trimester, 40 fetuses (55.6%, 40/72) were diagnosed with severe malformations, including 17 fetuses with fetal hydrops, 4 fetuses with exencephaly, 4 fetuses with amniotic band syndrome, 3 fetuses with omphalocele, 2 fetuses with megabladder, 2 fetuses with thanatophoric dysplasia and 8 fetuses with multiple malformations. The rest 32 fetuses (44.4%, 32/72) were detected with minor malformations. 1045 fetuses which continued to pregnancy underwent the second trimester. Fifty-five fetuses (5.3%, 55/1045) were diagnosed with abnormalities, including 12 fetuses with cardiac defects, 11 fetuses with urinary system abnormalities, 8 fetuses with facial deformities, 7 fetuses with limb abnormalities, 7 fetuses with central nervous system abnormalities, and 10 fetuses with other abnormalities. Conclusion Although the first trimester screening with ultrasound could detect the fetuses with critical anomalies or major malformations, it can not replace the second trimester screening.