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Journal of forensic and legal medicine · 2026

A rare case of multiple congenital anomalies in a neonate: Diagnostic challenges in establishing live birth and the role of comprehensive fetal autopsy.

Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Mishra Rahul, Raipuria Anup Kumar, Pm Fathima Harsha, Nishad Krishna, Singh Mousami, Maurya Malti Kumari, Rupani Raja, Verma Anoop Kumar

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

ИП Урсолов Владлен Сергеевич

ИНН 500118482352 · ОГРНИП 314500117700049

Реквизиты и контакты