孕11~13^(+6)周超声筛查胎儿严重结构异常的临床意义

Clinical significance of ultrasonic screening of fetal severe structural anomalies at 11~13^(+6)weeks

目的探讨早孕期(孕11~13^(+6)周)超声筛查胎儿严重结构异常的临床意义。方法选取自2019年1月至2021年12月在我院行早孕期(孕11~13^(+6)周)超声检查并在我院分娩的孕妇2245例,单胎2207例,双胎38例,总胎儿数2283例。对胎儿进行早孕期规范化超声筛查,后续对入组继续妊娠孕妇进行中晚孕规范化超声筛查,观察胎儿解剖结构,测量胎儿生长参数,并随访至胎儿分娩。结果2283例胎儿经早孕期规范化筛查,发现严重结构异常胎儿19例(0.83%),其中双胎之一异常1例。19例病例中,多系统异常胎儿9例,单系统异常胎儿10例;11例进行了染色体核型分析,4例(36.36%)检出染色体异常。19例病例中1例头颈部水囊瘤胎儿后续逐渐恢复至正常,18例后期随访证实,诊断阳性率为94.74%。2283例胎儿共发现颈项透明层厚度(NT)值增厚24例(1.05%),24例NT增厚胎儿早孕期检出11例(45.83%)伴有严重解剖结构异常,2274例NT值正常胎儿早孕期检出8例伴有严重解剖结构异常,两者比较差异具有统计学意义(P<0.01)。后续中晚孕期规范化超声筛查,共发现严重解剖结构异常胎儿12例(0.53%),出生后新生儿明显异常的6例(0.26%)。早孕期规范化超声筛查胎儿严重解剖结构异常灵敏度51.35%(19/37),特异度99.20%(2246/2264),阳性似然比64.59,阴性似然比0.49,约登指数50.56%。结论孕11~13^(+6)周的产前系统超声检查是众多产前诊断中重要的一项,通过对早孕期胎儿严重结构异常准确诊断,对孕妇是否继续妊娠及临床干预时机的选择都具有重大意义。

Objective To explore the clinical significance of ultrasound screening for severe fetal structural abnormalities in the first trimester(11~13^(+6) weeks).Methods A retrospective study of 2245 cases of nuchal translucency screening at 11~13^(+6) weeks in Shanghai Jiading Maternal Child Health Hospital from January 2019 to December 2021 was conducted.Among them,there were 2207 singletons,38 twins,and 2283 total fetuses.Standardized ultrasound screening of the fetus during early pregnancy,subsequent standardized ultrasound screening for pregnant women who continue to be pregnant is conducted in the second and third trimesters.The fetal anatomy and fetal growth parameters were observed and measured,followed up to fetal delivery.Results Standardized screening for early pregnancy was carried out on 2283 fetuses,19 cases of fetuses with severe anatomical abnormalities were found,and 1 case was abnormal in one of the twins.Among the 19 cases,9 were multisystem abnormal fetuses and 10 were single-system abnormal fetuses.Chromosomal karyotyping was performed in 11 of the 19 cases,and 4 cases of chromosomal abnormalities were detected.1 case of head and neck hydrocystic tumor fetus gradually returned to normal.18 cases were confirmed by late follow-up,and the positive diagnosis rate was 94.74%.24 cases of nuchal translucency(NT)value thickening were found in 2283 fetuses,and 11 cases with severe anatomical abnormalities were detected during early pregnancy.8 of the 2274 NT normal fetuses in the first-trimester pregnancy were detected with severe anatomical abnormalities,The difference between the two is statistically significant(P<0.01).After subsequent ultrasound screening,12 anatomically abnormal fetuses were found.After birth,6 newborns had significant anatomical abnormalities.The sensitivity,specificity,positive likelihood ratio,negative likelihood ratio,and Youden index of ultrasound were 51.35%,99.20%,64.59,0.49,and 50.56%.Conclusion Prenatal system ultrasonography of pregnancy is an important test method.By making an accurate diagnosis of an abnormal fetus,both are of great significance for pregnant women to continue their pregnancies and the choice of timing of clinical interventions.