Diagnostic value of fetal echocardiography for ventricular septal defect and reasons for missed diagnosis and misdiagnosis
10.3760/cma.j.cn113903-20241027-00718
- VernacularTitle:超声心动图诊断胎儿室间隔缺损的价值及漏误诊原因分析
- Author:
Wenying YUAN
1
;
Qichang ZHOU
;
Lin ZHANG
;
Xinglan HUANG
;
Shuizhen LIU
;
Ling HUANG
;
Fang LIU
Author Information
1. 湘潭市妇幼保健院超声科，湘潭 411100
- Publication Type:Journal Article
- Keywords:
Ventricular septal defect;
Congenital heart disease;
Echocardiography;
Fetus;
Prenatal;
Missed diagnosis
- From:
Chinese Journal of Perinatal Medicine
2025;28(7):593-597
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the diagnostic value of fetal echocardiography (ECHO) for ventricular septal defect (VSD) and the causes of missed diagnosis and misdiagnosis by analyzing the standard of ECHO sections and image quality.Methods:A retrospective analysis was conducted on 94 VSD fetuses diagnosed by ECHO at Xiangtan Maternal and Child Health Care Hospital from January 2022 to June 2024. Clinical data including the anatomic subtypes, associated anomalies, chromosomal karyotype results, pregnancy outcomes, and neonatal ECHO results were collected and analyzed. Besides, by reviewing the ultrasound images from the institution's ultrasound workstation, a descriptive analysis was conducted on the ECHO section criteria and image quality in the missed and misdiagnosed cases.Results:Among 10 984 fetuses undergoing ECHO, a total of 94 cases of fetal VSD were detected (0.7%), including 45 (48%) isolated VSD and 49 (52%) non-isolated VSD cases. Anatomic distribution revealed perimembranous type predominance (67, 71%), followed by muscular (24, 26%), subarterial types (2, 2%), and perimembranous+muscular type (1, 1%). Among 29 missed diagnosis cases (fetal ECHO-negative but neonatal ECHO-confirmed VSDs), all were isolated VSD, muscular types accounted for 19 (66%), perimembranous types for 8 (27%), and subarterial types for 2 (7%). The causes of missed diagnosis include: technical limitation in 14 cases (48%), restricted cardiac acoustic window in 11 cases (38%), and operator-dependent factors in four cases (14%). All 18 misdiagnosed cases occurred in isolated VSD, with 15 cases of perimembranous and three cases of muscular types. The causes of misdiagnosis include: nine cases due to non-perpendicular beam alignment to perimembranous septum, six cases due to excessively high color flow gain,and three cases due to the misinterpretation of the right ventricular outflow tract flow above the aortic valve as VSD septal perforation blood flow. The sensitivity and specificity of fetal ECHO for diagnosing VSD were 76.42% and 99.83%. Among the 94 cases of fetal VSD, 38 cases (40%) underwent chromosomal karyotype analysis and chromosomal microarray analysis, which identified chromosomal karyotype abnormalities or pathogenic gene variants in 4/16 non-isolated VSDs (all perimembranous), while no anomalies were detected in 22 isolated VSDs. Pregnancy outcomes showed 31 terminations due to associated structural or chromosomal abnormalities versus 63 live births. In the live births, who underwent echocardiography in the neonatal period, 19 cases (30%) showed no VSD and were considered to have undergone spontaneous in utero closure, and persistent defects were found in 44 (70%).Conclusions:Fetal ECHO demonstrates high sensitivity and specificity in the diagnosis of fetal VSD. Critical quality control measures include individualized parameter adjustment and systematic multiplanar continuous scanning to minimize diagnostic errors. Isolated small and medium-sized muscular and perimembranous VSD usually have a good prognosis.
