Taiwanese journal of obstetrics & gynecology · 2026
Integrative prenatal imaging and genomic testing in fetal congenital heart defects: Insights from a 30-year retrospective study.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Tseng Jenn-Jhy, Jan Shen-Ling
Аннотация
OBJECTIVE: To assess the combined role of prenatal imaging and stepwise genetic testing in diagnosing fetal congenital heart defects (CHDs) over a 30-year period, focusing on CHD subtypes, extracardiac anomalies, and diagnostic yield.
MATERIALS AND METHODS: This retrospective cohort study included 423 fetuses diagnosed with CHDs at Taichung Veterans General Hospital between 1995 and 2024. All underwent detailed fetal echocardiography. Genetic testing was conducted using a tiered approach: most cases underwent karyotyping, with chromosomal microarray analysis (CMA), targeted gene panels, or whole-exome sequencing (WES) added based on clinical indications. Diagnostic yields were assessed by testing modality, with subgroup analyses based on CHD type and extracardiac features.
RESULTS: Septal defects were the most common diagnosis (18.7 %), increasing to 26.5 % when coexisting intracardiac anomalies were included. Cyanotic CHDs predominated (39.5 %), followed by miscellaneous anomalies (22.9 %), left-to-right shunts (18.9 %), obstructive lesions (11.6 %), and arrhythmias (7.1 %). Extracardiac structural problems and fetal hydrops were present in 22.2 % and 5.0 %, respectively. Chromosomal abnormalities were detected in 12.3 % (40/326), predominantly trisomies, and were significantly associated with left-to-right shunts (55 %, P < 0.001) and extracardiac problems (62.5 %, P < 0.001). Among the 181 cases with normal karyotypes, CMA identified pathogenic or likely pathogenic copy number variants in 7.7 %, including deletions at 22q11.21 (involving TBX1), 7q11.23 (involving ELN), and 16q24.2-q24.3 (involving ZFPM1), among others. With the addition of WES or targeted sequencing, the overall diagnostic yield rose to 14.1 % (27/191), with pathogenic or likely pathogenic variants detected including ANKRD11, ACVRL1, EFTUD2, TSC2, and FBN1. The diagnostic yield P was significantly higher in fetuses with extracardiac problems (51.9 %, P < 0.001).
CONCLUSION: Combining prenatal imaging with tiered genetic testing enhances the diagnostic precision in fetal CHDs, particularly in cases with extracardiac anomalies and left-to-right shunts. These findings support a clinically driven, resource-sensitive approach to prenatal genetic evaluation.
MATERIALS AND METHODS: This retrospective cohort study included 423 fetuses diagnosed with CHDs at Taichung Veterans General Hospital between 1995 and 2024. All underwent detailed fetal echocardiography. Genetic testing was conducted using a tiered approach: most cases underwent karyotyping, with chromosomal microarray analysis (CMA), targeted gene panels, or whole-exome sequencing (WES) added based on clinical indications. Diagnostic yields were assessed by testing modality, with subgroup analyses based on CHD type and extracardiac features.
RESULTS: Septal defects were the most common diagnosis (18.7 %), increasing to 26.5 % when coexisting intracardiac anomalies were included. Cyanotic CHDs predominated (39.5 %), followed by miscellaneous anomalies (22.9 %), left-to-right shunts (18.9 %), obstructive lesions (11.6 %), and arrhythmias (7.1 %). Extracardiac structural problems and fetal hydrops were present in 22.2 % and 5.0 %, respectively. Chromosomal abnormalities were detected in 12.3 % (40/326), predominantly trisomies, and were significantly associated with left-to-right shunts (55 %, P < 0.001) and extracardiac problems (62.5 %, P < 0.001). Among the 181 cases with normal karyotypes, CMA identified pathogenic or likely pathogenic copy number variants in 7.7 %, including deletions at 22q11.21 (involving TBX1), 7q11.23 (involving ELN), and 16q24.2-q24.3 (involving ZFPM1), among others. With the addition of WES or targeted sequencing, the overall diagnostic yield rose to 14.1 % (27/191), with pathogenic or likely pathogenic variants detected including ANKRD11, ACVRL1, EFTUD2, TSC2, and FBN1. The diagnostic yield P was significantly higher in fetuses with extracardiac problems (51.9 %, P < 0.001).
CONCLUSION: Combining prenatal imaging with tiered genetic testing enhances the diagnostic precision in fetal CHDs, particularly in cases with extracardiac anomalies and left-to-right shunts. These findings support a clinically driven, resource-sensitive approach to prenatal genetic evaluation.