胎儿颈后皮下积液内分隔与染色体异常的相关性

Relationship between Septum of Nuchal Subcutaneous Hydrops and Chromosomal Anomalies

目的评估早孕期胎儿颈后皮下积液内分隔与染色体异常的关系。方法将2014年1月-2016年12月早孕期超声检查提示颈项透明层(NT)增厚NT≥3 mm或颈后皮下积液出现分隔(NS)、接受侵入性产前诊断的胎儿281例纳入研究。将281例孕妇分为3组:NT厚度为3.0~5.0 mm且颈后皮下积液未发现分隔的胎儿(NT 3.0~5.0 mm组,n=124);NT厚度>5 mm且颈后皮下积液未发现分隔的胎儿(NT>5.0 mm组,n=96);出现NS的胎儿(NS组,n=61)。结果NS组胎儿染色体异常率明显高于NT 3.0~5.0 mm组和NT>5 mm组(P<0.01)。经调整孕妇年龄、妊娠前体质量指数、种族、头臀长,NS组较NT 3.0~5.0 mm组(OR=4.97;95%CI:2.76~10.77;P<0.01)和NT>5 mm组(OR=3.82;95%CI:1.87~7.21;P<0.01)胎儿发生染色体非整倍体的风险更显著。结论颈后皮下积液是否存在分隔在妊娠早期染色体非整倍体筛查中可能可以作为一个有意义的筛查指标。

Objective To evaluate the association of nuchal septations with chromosomal anomalies during the first trimester of pregnancy.Methods A total of 281 patients who were diagnosed to have elevated nuchal translucency(NT≥3 mm)or nuchal septations during the first trimester from Jan.2014 to Dec.2016 were included.These patients were divided into three groups:Patients with NT thickness 3-5 mm and without nuchal septations(NT 3-5 mm group,n=124);Patients with NT thickness>5 mm and without nuchal septations(NT>5 mm group,n=96);patients with nuchal septations(NS group,n=61).Results The rate of chromosomal abnormalities was significantly higher for patients in NS group compared to those in the NT 3-5 mm group(P<0.01)and NT>5 mm group(P<0.01).After controlling for maternal age,maternal BMI,ethnicity and crown-rump length,nuchal septations were reported to be significantly associated with a higher risk of aneuploidy compared with NT 3-5 mm(OR=4.97;95%CI:2.76-10.77;P<0.01)and NT>5 mm(OR=3.82;95%CI:1.87-7.21;P<0.01).Conclusions Measurement of nuchal septations during the first trimester of pregnancy proves to be a useful ultrasound prognostic indicator of chromosomal anomalies.