DOI 10.1016/j.jflm.2026.103136
A rare case of multiple congenital anomalies in a neonate: Diagnostic challenges in establishing live birth and the role of comprehensive fetal autopsy.
Аннотация
Congenital malformations remain one of the leading causes of perinatal mortality in India. These anomalies encompass a wide range of chromosomal abnormalities, inborn errors of metabolism, and other Mendelian disorders. We report a case of a four-day-old male neonate presenting with multiple congenital anomalies consistent with features of Trisomy 13, a rare chromosomal disorder, which ultimately led to neonatal death. An important observation was also made regarding the hydrostatic test-a procedure traditionally used to determine whether a newborn was liveborn or stillborn. This test, however, is susceptible to false results. In this case, a false-negative hydrostatic test was observed, likely due to hyaline membrane disease of the lungs in conjunction with multiple congenital malformations. Our findings emphasize the importance of performing a comprehensive fetal autopsy, supported by radiological and histopathological examinations, to achieve an accurate and conclusive diagnosis. Such a multidisciplinary approach remains the gold standard for confirming the cause of death and preventing diagnostic errors in similar cases.
Предметные рубрики MeSH
Подготовка и перевод публикации
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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