超声在早孕期筛查胎儿全前脑畸形中的应用价值探讨

THE APPLICATION VALUE OF ULTRASOUND IN SCREENING FOR FETAL HOLOPROSENCEPHALY IN EARLY PREGNANCY

目的探讨超声在早孕期筛查胎儿全前脑畸形中的应用价值。方法对2014年10月—2017年6月在唐山市妇幼保健院超声科就诊的28 974例(单胎28 718例,双胎256例)早孕期胎儿进行超声系统筛查。常规正中矢状切面颈项透明层,重点扫查头颅横切面,随访中晚孕期超声检查结果及妊娠结局。结果 28974例胎儿中发现全前脑畸形16例,发生率为0.55‰(16/28 974),其中在早孕期筛查出9例(56.3%),中孕期筛查出6例(37.5%),晚孕期筛查出1例(6.2%)。早孕期超声筛查胎儿全前脑畸形的敏感度为56.25%,特异度为100%,阳性预测值为100%,阴性预测值为89.59%。16例全前脑畸形中无叶全前脑畸形10例(62.5%)、半叶全前脑畸形5例(31.3%)、叶状全前脑1例(6.2%),早孕期的超声筛查胎儿无叶全前脑畸形的敏感度为90%,特异度100%,阳性预测值为100%,阴性预测值为99.99%。16例全前脑畸形胎儿全部引产证实。结论超声在早孕期筛查胎儿全前脑畸形尤其是无叶全前脑中具有重要的应用价值,早期发现、早期诊断可以减轻引产造成的孕妇身体和精神上的伤害。

Objective To explore the value of ultrasound in screening fetal holoprosencephaly in early pregnancy.Methods There were 28974 fetuses（28718 singletons,256 twins）screened systematically by ultrasound in early pregnancy in author＇s hospital from October 2014 to June 2017.Nuchal translucency was measured in normal middle sagittal section and the transverse section of the skull was focused on.The results of ultrasound examination during the middle and late pregnancy and the outcome of pregnancy were followed up.Results There were 16 cases with holoprosencephaly were detected in28974 fetuses,and its incidence was 0.55 ‰（16/28974）,including 9 cases（56.3%）found in the early pregnancy,6 cases（37.5%）in the mid pregnancy and 1 case（6.2%）in the late pregnancy.The sensitivity of ultrasound screening for fetal holoprosencephaly in the early pregnancy was 56.25%,and the specificity was 100%;the positive predictive value was 100% and the negative predictive value was 89.59%.About 10 in 16 cases（62.5%）were alobar holoprosencephaly,5 cases（31.3%）were semilobar holoprosencephaliy and 1 case（6.2%）were lobar holoprosencephaly.The sensitivity of ultrasound screening for fetal alobar holoprosencephaly in the early pregnancy was 90%,and the specificity was 100%;the positive predictive value was 100% and the negative predictive value was 99.99%.Sixteen fetuses with holoprosencephaly were induced and confirmed.Conclusion Ultrasound plays an important role in screening fetal holoprosencephaly in particular alobar holoprosencephaly during early pregnancy,which can reduce physical and mental injury of the pregnant women caused by odinopoeia.