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中国循证儿科杂志

中国循证儿科杂志 ›› 2023, Vol. 18 ›› Issue (4): 303-307.DOI: 10.3969/j.issn.1673-5501.2023.04.011

• 论著 • 上一篇    下一篇

孕早中期超声筛查胎儿先天性心脏病诊断准确性研究

韩霞1，张莉1，周茜1，谢娜1，吴冰1，冯佩1，胡健伟1，郭颖1，黄国英2   

  1. 1 昆山市妇幼保健院 苏州，215300；2 复旦大学附属儿科医院 上海，201102
  • 收稿日期:2022-10-18 修回日期:2023-02-05 出版日期:2023-08-25 发布日期:2023-08-25
  • 通讯作者: 黄国英

Fetal congenital heart disease screening by ultrasound during early and middle pregnancy: A diagnostic accuracy study

HAN Xia1, ZHANG Li1, ZHOU Qian1, XIE Na1, WU Bing1, FENG Pei1, HU Jianwei1, GUO Ying1, HUANG Guoying2   

  1. 1 Maternal and Child Health Center in Kunshan City, Kunshan 215300, China; 2 Children's Hospital of Fudan University, Shanghai 201102, China
  • Received:2022-10-18 Revised:2023-02-05 Online:2023-08-25 Published:2023-08-25
  • Contact: HUANG Guoying

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摘要： 背景 产前筛查胎儿先天性心脏病（CHD）不仅可减少预后不良的危重出生缺陷儿，也有利于对CHD胎儿尽早进行评估、追踪和管理。 目的 探讨孕早中期超声筛查胎儿CHD的诊断准确性。 设计诊断准确性研究。 方法 纳入2018年8月至2021年12月在江苏省昆山市妇幼保健院建卡产检且分娩的胎儿。诊断金标准为胎儿或新生儿心脏超声检查，待测标准为孕早中期超声筛查任意一次阳性。 主要结局指标 诊断准确性参数。 结果 研究期间共18 326名孕妇在我院建卡产检，其中3 534名（19.3%）分娩资料不全，14 960名胎儿数据进入本文分析，孕早中期超声筛查阳性胎儿882例，失访92例（10.2%），790例胎儿或行超声、或行心脏超声、或行染色体检查，引产和流产182例；608名活产儿中，103例经胎儿心脏超声诊断为CHD，4例出生后心脏超声确诊CHD。基于14 868例胎儿CHD筛查，真阳性171例，假阴性48例，真阴性14 030例，假阳性619例，敏感度为78.1%（95%CI：71.9%~83.3%），特异度为95.8%（95%CI：95.4%~96.1%），假阴性率为21.9%（95%CI：16.7%~28.1%）；孕早中期超声筛查阴性胎儿14 078例，无失访病例，连同孕早中期超声筛查阳性但经心脏超声或染色体检查正常的胎儿505例，在生后进行双指标法筛查，阴性14 335例，阳性244例，再经新生儿心脏超声确诊CHD 52例。219例确诊CHD中，①胎儿期超声未发现需经新生儿心超诊断的CHD：房间隔缺损（继发孔型）和先天性二叶式主动脉瓣畸形；②引产64例，其中引产率100%的CHD：复杂性CHD、右室双出口、室间隔缺损（主动脉缩窄）、房间隔膨胀瘤、主动脉瓣狭窄、主动脉弓离断、肺动脉吊带、下腔静脉缺如、室间隔缺损（肺动脉瓣狭窄）、心内膜弹力纤维增生症、右心发育不良、单心室、三尖瓣重度狭窄、右肺动脉异常起源于升主动脉；引产率80%的CHD：法洛四联症(8/10)、完全性房室间隔缺损(5/6)、完全性大动脉转位(4/5)；③9例CHD并染色体异常：室间隔缺损2例（2.4%）、复杂性CHD 1例（5%）、法洛四联症1例（10%）、右心发育不良1例（50%）、单心室1例（（100%）。 结论 孕早中期筛查CHD后，即使是筛查阴性的胎儿也要在生后进行双指标筛查，对于筛查阳性的胎儿更要行密切的胎儿心脏超声检查，完整实现CHD产前产后一体化管理模式。

关键词: 超声筛查, 先天性心脏病, 转归

Abstract: Background Prenatal screening for congenital heart disease (CHD) can not only reduce the number of critical birth defects with poor prognosis, but also facilitate the early evaluation, tracking and management of CHD fetuses. Objective To investigate the diagnostic accuracy of fetal CHD by ultrasound screening in the first and second trimester. Design Diagnostic test accuracy. Methods This research covers the pregnant women and their fetuses who registered, received examinations and gave birth in Jiangsu Kunshan Maternity and Child Care Centre between Aug.2018 and Dec. 2021. The fetal or neonatal cardiac ultrasound was used as the gold standard for diagnosis, and the standard to be further tested was the positive ultrasound result in the first and second trimesters. Main outcome measures Diagnostic accuracy parameters. Results During the study period, a total of 18 326 pregnant women underwent birth examination in our hospital, among which 3 534 (19.3%) had incomplete delivery data, and 14 960 fetal data were included in the analysis. Among 882 fetuses positive for ultrasound screening in the first and second trimester, 92 were lost to followup (10.2%), and 790 fetuses underwent ultrasound, cardiac ultrasound, or chromosome examination with induced labor and abortion in 182 cases. Of the 608 live births, 103 were diagnosed with CHD by fetal echocardiography and 4 were diagnosed with CHD by postnatal echocardiography.Based on 14 868 cases of fetal CHD screening, 171 cases were true positive, 48 cases were false negative, 14 030 cases were true negative, and 619 cases were false positive. The sensitivity was 78.1%(95%CI:71.9%83.3%), and the specificity was 95.8%(95%CI:95.4%96.1%). The false negative rate was 21.9%(95%CI: 16.7%28.1%).There were 14 078 negative fetuses in the first and second trimester of pregnancy with no lost followup cases, and 505 fetuses in the first and second trimester of pregnancy with positive ultrasound screening but normal results by cardiac ultrasound or chromosome examination. Screened by dual index method after birth, 14 335 negative fetuses and 244 positive fetuses were found, and 52 CHD cases were confirmed by neonatal cardiac ultrasound.In 219 cases of confirmed CHD, (1) CHD featured by atrial septal defect (secondary perforation) and congenital bilobal aortic valve malformation could not be found by fetal ultrasound and needed to be diagnosed by neonatal ultrasound; (2) Among 64 cases of induced labor, the 100% induced labor rate was found in CHD of complex type, right ventricular double outlet, ventricular septal defect (coarctation of aorta), atrial septal dilatation tumor, aortic valve stenosis, aortic arch rupture, pulmonary artery suspension, absence of inferior vena cava, ventricular septal defect (pulmonary stenosis), endocardial fibroplasia, right heart dysplasia, single ventricle, severe tricuspid valve stenosis, right pulmonary artery abnormality originating from the ascending aorta, and 80% induced labor rate was found in CHD of tetralogy of Fallot (8/10), complete atrioventricular septal defect (5/6), complete transposition of great arteries (4/5);(3)There were 9 cases of CHD with chromosomal abnormalities with 2 cases of ventricular septal defect (2.4%), 1 case of complex CHD (5%), 1 case of tetralogy of Fallot (10%), 1 case of right heart dysplasia (50%), and 1 case of single ventricle (100%). Conclusions After CHD screening in the first and second trimester, even fetuses with negative screening should be screened with two indicators after birth. Fetuses with positive screening should be closely examined with fetal cardiac ultrasound so as to fully realize the integrated prenatal and postpartum management mode of CHD.

Key words: Ultrasound screening, Congenital heart disease (CHD), Referral