妊娠中晚期超声软指标与胎儿染色体异常及其围生结局

目的:探讨妊娠中晚期超声软指标与胎儿染色体异常的关系及其对妊娠结局的影响。方法:回顾性分析2012年4月至2015年12月于四川省人民医院就诊的妊娠中晚期(孕18~32周)超声检查发现软指标异常但未合并明确结构异常1141例患者的临床资料,分析其产前诊断、胎儿染色体情况及围生结局。结果:1检测出24例胎儿染色体异常,其中10例为唐氏筛查(唐筛)低风险,5例为临界风险,3例为高风险;9例无创基因检测高风险。18例引产,6例正常分娩,新生儿正常。2单项超声软指标异常者胎儿染色体异常检出率为1.81%(20/1107),两项超声软指标异常及以上者胎儿染色体异常检出率为11.76%(4/34);两组比较差异有统计学意义(P0.05)。3不同部位的超声软指标异常胎儿染色体异常检出率:鼻骨缺失或发育不良为31.58%(6/19),颈后皮肤皱褶(NF)增厚为25.00%(1/4),脉络丛囊肿为5.38%(7/130),侧脑室增宽为4.27%(5/117)。结论:妊娠中晚期超声软指标两项及以上异常和鼻骨缺失、发育不良及NF增厚的异常胎儿有较高的染色体异常检出率,建议可行介入性产前诊断;单项超声软指标及其他部位异常的可结合唐筛和无创基因检测,以获得良好围生儿结局。

The Relationship of the Fetal Chromosomal Abnormality and the Pregnancy Outcome with Ultrasonographic Soft Markers in Middle and Late Pregnancy

Objective:To analyze the relationship of the fetal chromosomal abnormality and the pregnancy outcome with ultrasonographic soft markers in middle and late pregnancy(18-32 weeks).Methods:The 1141 pregnant women who came to Sichuan Provincial People's Hospital during 4.2012 to 12.2015,with ultrasonographic soft markers in middle and late pregnancy were included in the study.Their prenatal diagnosis,fetal chromosome and the pregnancy outcomes were analyzed.Results:①24 cases had chromosome abnormalities,including 10 with low-risk of Down's screening,5 with critical-risk of Down's screening,3 with high-risk of Down's screening;and 9 with high-risk of Non-invasive prenatal test(NIPT).18 women induced labour,6 women normal delivered with healthy newborns.②The detection rates of individual soft markers was 1.81％ (20/1107),the detection of multiple soft markers was 11.76％ (4/34);the difference was of statistic significance (P ＜ 0.05).③Different soft markers varied in the degree of association with fetal chromosomal abnormality:Nasal bone absence or hypoplasia:31.58％ (6/19),soft tissue nuchal fold thickening:25.00％ (1/4),choroid plexus cysts:5.38％ (7/130),lateral cerebral wentriculomegaly:4.27％ (5/117).Conclusions:Multiple soft markers during middle and late pregnancy and ultrasonographic soft marker:Nasal bone absence or hypoplasia,soft tissue nuchal fold thickening correlate with marked increased risk for fetal chromosomal abnormality,so these women should be suggested to getting interventional prenatal diagnosis.The pregnant women with individual soft marker and other ultrasonographic soft markers should be suggested to analyze with their Down's screening or NIPT,to improve the perinatal outcomes.