Authors

  • Elshoda Bahodirova
  • Mushtariy Abdujalilova
  • Lola Isayeva
  • Ozoda Orifova
  • Komil Ismoilov

DOI:

https://doi.org/10.71337/inlibrary.uz.science-research.139805

Keywords:

Patau syndrome trisomy 13 holoprosencephaly alobar HPE prenatal diagnosis embryogenesis.

Abstract

Holoprosencephaly (HPE) is a major congenital brain malformation caused by incomplete cleavage of the prosencephalon during early embryogenesis. Trisomy 13 (Patau syndrome) represents the most frequent chromosomal basis of HPE, with the alobar variant being the most severe clinical form. This article provides a comprehensive review of the pathogenesis of trisomy 13, its embryological and genetic association with HPE, clinical manifestations, prenatal diagnostic methods, and the systemic morphological abnormalities observed in affected fetuses. Additionally, cardiac, craniofacial, limb, and neuroanatomical defects associated with severe cases are analyzed in detail, emphasizing issues related to genetic counseling, prognosis, and perinatal management.

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