Study on ultrasonographic diagnosis of complex fetal congenital heart disease in the first trimester
杨水华 1梁蒙凤 1覃桂灿 1梁艳 1罗苏丽 1杨祚建 1庞玉兰 1龙飞雯 1唐艳妮 1何桂丹1
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作者信息
1. 广西壮族自治区妇幼保健院超声医学科，南宁 530000
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摘要
目的 探讨妊娠11～13＋6周超声对检测胎儿先天性心脏病诊断准确性，并评估其预后。 方法 前瞻性选取2015年1月至2022年12月于广西壮族自治区妇幼保健院进行超声检查的11～13＋6周胎儿，利用规范化超声切面对胎儿进行检查，对可疑先天性心脏病胎儿尽量完善心脏超声检查切面，随访后续超声检查结果、产前诊断、病理解剖及妊娠结局。 结果 72 242例混合风险胎儿共检出先天性心脏病539例，早孕期发生率为0.75%(539/72 242)，软指标阳性胎儿先天性心脏病发生率9.20%(287/3 118)，胎儿多发畸形先天性心脏病发生率16.22%(235/1 449)。复杂先天性心脏病诊断符合率97.42%。对于复杂先天性心脏病，早孕期超声的敏感性90.41%，特异性99.98%，假阳性率0.02%，假阴性率9.59%，结合本研究结果推荐复杂先天性心脏病异常切面模式图。252例行染色微阵列或基因测序，42.46%(107/252)阳性。 结论 规范化超声检查对早孕期胎儿先天性心脏病有较高的检出率，声束对心脏的横向扫描可以显著提高心脏切面灰阶图像的显示，参照心脏切面模式图，有利于胎儿先天性心脏病早期诊断。 Objective To determine the diagnostic accuracy and prognosis of fetal congenital heart disease (CHD) detected by ultrasound at 11-13 weeks gestation. Methods Fetuses at 11 to 13+ 6 weeks gestation in the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region between January 2015 and December 2022 were prospectively collected. Standrardized ultrasound was used to examine the fetuses. For the suspected fetal CHD, the section of cardiac ultrasound was improved as far as possible, and ultrasonic results, prenatal diagnosis, pathological anatomy and pregnancy outcome were followed up. Results A total of 539 cases of CHD were detected in 72 242 fetuses with mixed risk in the first trimester, the incidence was 0.75% (539/72 242). The incidence of CHD in the fetuses with positive soft markers was 9.20% (287/3 118), and the incidence of multiple fetal malformations was 16.22% (235/1 449). The diagnostic accordance rate of complex CHD was 97.42%. For complex CHD, the sensitivity, specificity, false positive rate and false negative rate of first-trimester ultrasound were 90.41%, 99.98%, 0.02%, 9.59%. Combined with the results of this study, the abnormal section model of complex CHD was recommended. A total of 252 cases underwent staining chromosomal microarray or gene sequencing, of which 42.46% (107/252) were positive. Conclusions Standardized ultrasound examination has a very high detection rate for fetal CHD in the first trimester. Transverse scanning of the heart can significantly improve the display of gray scale cardiac section, and reference to the cardiac section pattern map is beneficial to the early diagnosis of fetal CHD.
Abstract
Objective To determine the diagnostic accuracy and prognosis of fetal congenital heart disease (CHD) detected by ultrasound at 11-13 weeks gestation. Methods Fetuses at 11 to 13+ 6 weeks gestation in the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region between January 2015 and December 2022 were prospectively collected. Standrardized ultrasound was used to examine the fetuses. For the suspected fetal CHD, the section of cardiac ultrasound was improved as far as possible, and ultrasonic results, prenatal diagnosis, pathological anatomy and pregnancy outcome were followed up. Results A total of 539 cases of CHD were detected in 72 242 fetuses with mixed risk in the first trimester, the incidence was 0.75% (539/72 242). The incidence of CHD in the fetuses with positive soft markers was 9.20% (287/3 118), and the incidence of multiple fetal malformations was 16.22% (235/1 449). The diagnostic accordance rate of complex CHD was 97.42%. For complex CHD, the sensitivity, specificity, false positive rate and false negative rate of first-trimester ultrasound were 90.41%, 99.98%, 0.02%, 9.59%. Combined with the results of this study, the abnormal section model of complex CHD was recommended. A total of 252 cases underwent staining chromosomal microarray or gene sequencing, of which 42.46% (107/252) were positive. Conclusions Standardized ultrasound examination has a very high detection rate for fetal CHD in the first trimester. Transverse scanning of the heart can significantly improve the display of gray scale cardiac section, and reference to the cardiac section pattern map is beneficial to the early diagnosis of fetal CHD.
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