Aims

Major cardiac abnormalities can lead to miscarriages and is also an important indication of medical termination of pregnancy. The present study aims: (1) To determine the spectrum of cardiac anomalies in fetal autopsies, (2) To correlate the autopsy findings with prenatal imaging studies.

Methods

Fetal autopsies with cardiac anomalies were retrospectively analyzed over a period of five years. Autopsy diagnoses were correlated with prenatal ultrasound and echocardiogram findings.

Results

Of the 177 fetal autopsies, 40 (22.5%) cases with cardiac defects were identified. Among these cases, 11 (27.5%) showed only cardiac defects and associated extracardiac malformations were seen in 29 cases (72.5%). Septal defects (45%) were the most frequent cardiac defect followed by left ventricular outflow tract obstruction. Agreement with prenatal imaging and autopsy findings was seen in 65% of cases. There was 100% concordance between autopsy and echocardiogram wherever available.

Conclusion

Cardiac malformation forms a significant subset of fetal congenital anomalies. Meticulous examination and following sequential segmental analysis during autopsy are essential in identifying complex cardiac and additional extra cardiac defects in the fetuses. Fetal autopsy plays a vital role in confirming and/or refuting the imaging findings and could be the steppingstone in understanding the pathogenesis of cardiac abnormalities.

中文翻译：

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病理学家在鉴别心脏缺陷中的作用-胎儿尸检系列

目的

严重的心脏异常可导致流产，也是医学上终止妊娠的重要标志。本研究旨在：（1）确定胎儿尸检中心脏异常的频谱，（2）将尸检结果与产前影像学研究相关联。

方法

在五年的时间里，对具有心脏异常的胎儿尸检进行了回顾性分析。尸检诊断与产前超声和超声心动图检查结果相关。

结果

在177例胎儿尸检中，发现40例（22.5％）有心脏缺陷的病例。在这些病例中，有11例（27.5％）仅表现出心脏缺陷，并在29例（72.5％）中发现了相关的心脏外畸形。间隔缺损（45％）是最常见的心脏缺损，其次是左心室流出道梗阻。65％的病例与产前影像检查和尸检结果一致。尸检和超声心动图检查之间的一致性（如果有）。

结论

心脏畸形是胎儿先天性异常的重要子集。在尸检过程中进行细致的检查和进行顺序的节段分析对于确定胎儿的复杂心脏和其他额外心脏缺陷至关重要。胎儿尸检在确认和/或驳回影像学发现中起着至关重要的作用，并且可能是了解心脏异常发病机制的垫脚石。