单一超声软指标阳性与胎儿染色体异常的关系

Relationship between pregnancy with positive single ultrasonographic soft marker and fetal chromosomal abnormalities

目的分析早中孕期单一超声软指标阳性与胎儿染色体异常的关系,探讨超声检查单一软指标阳性对染色体异常核型的筛查价值及临床应用策略。方法收集2012-01～2018-04来我院进行产前诊断孕周在16-32周超声检查提示为胎儿单一超声软指标阳性的病例2 922例,统计分析异常核型的检出结果以及随访这些胎儿的分娩结局。结果 2 922例单一超声软指标阳性胎儿中染色体核型异常101例,异常核型检出率3. 5%。不同超声软指标阳性的胎儿染色体异常检出率为:心室内强回声灶1. 4%(14/994); NT增厚9. 3%(13/140);肠管回声增强1. 5%(2/131);肾盂扩张1. 6%(2/122);侧脑室增宽3. 1%(18/576);单脐动脉4. 4%(10/225);脉络膜丛囊肿8. 3%(14/168);鼻骨缺失或鼻骨发育不良13. 8%(16/116);羊水量异常2. 7%(12/450)。结论超声软指标阳性与胎儿染色体异常有一定相关性,有必要行介入性产前诊断,避免染色体异常胎儿出生。

Objective To analyze the relationship between positive single ultrasonographic soft marker and fetal chromosomal abnormalities in the first and second trimester,and evaluate the value of single ultrasonographic soft marker in the prediction of abnormal karyotype.Methods A total of 2 922 pregnant women(16-32 pregnant weeks)with positive single ultrasonographic soft marker underwent the invasive prenatal diagnosis in the Department of Obstetrics and Gynecology of the First Hospital Affiliated to Air Force Me-dical University from January 2012 to April 2018.The outcomes of all the fetuses were evaluated.Results Among the 2 922 fetuses with single ultrasonogtaphic maker,101 fetuses showed chromosomal abnormalities.The incidence of fetal chromosomal abnormalities was 3.5%.The detection rate of fetal chromosomal abnormalities was 1.4%(14/994)for echogenic intracardiac focus,9.3%(13/140)for increased nuchal translucency(NT),1.5%(2/131)for echogenic bowel,1.6%(2/122)for pyelectasis,3.1%(18/576)for ventriculomegaly,4.4%(10/225)for single umbilical artery,8.3%(14/168)for choroid plexus cyst,13.8%(16/116)for nasal hypoplasia,and 2.7%(12/450)for the volume of amniotic abnormal.Conclusion Ultrasonographic soft makers are associated with fetal chromosomal abnormalities.It is necessary to perform invasive prenatal diagnosis for avoiding the birth with fetal chromosomal abnormalities.