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Background <p>Holoprosencephaly (HPE) is a rare congenital condition encompassing incomplete midline cleavage of the prosencephalon and associated craniofacial abnormalities.</p> Case presentation <p>We report a rare case of a 34-year-old Memon woman, gravida 3 para 2, with no known comorbidities or exposure to teratogens, who presented for her 12-week scan which revealed a single alive fetus having an absent falx cerebri with fused thalami, a single large posterior ventricle, and facial anomalies suggestive of alobar HPE. A follow-up ultrasound showed abnormally fused portions of the brain and a high amniotic fluid index (AFI), indicating polyhydramnios. The fetus had intrauterine death at 7&#xa0;months of gestation.</p> Conclusion <p>This case highlights the importance of early prenatal diagnosis of alobar HPE, the most severe form, using transabdominal ultrasonography (USG) and transvaginal USG. Prompt prenatal imaging is crucial for early diagnosis of alobar HPE, enhancing antenatal care, and facilitating improved family planning strategies to alleviate potential psychological distress due to its poor prognosis. Our documentation of such a rare condition is essential to help create a comprehensive database of similar cases.</p>

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A case of early diagnosis of alobar holoprosencephaly from Pakistan: importance of prompt prenatal imaging

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年6月18日

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  • Romesa Qazi,
  • Ayesha Liaquat,
  • Qurat Ul Ain Qazi,
  • Bushra Tariq,
  • Shajie Ur Rehman Usmani

摘要

Background

Holoprosencephaly (HPE) is a rare congenital condition encompassing incomplete midline cleavage of the prosencephalon and associated craniofacial abnormalities.

Case presentation

We report a rare case of a 34-year-old Memon woman, gravida 3 para 2, with no known comorbidities or exposure to teratogens, who presented for her 12-week scan which revealed a single alive fetus having an absent falx cerebri with fused thalami, a single large posterior ventricle, and facial anomalies suggestive of alobar HPE. A follow-up ultrasound showed abnormally fused portions of the brain and a high amniotic fluid index (AFI), indicating polyhydramnios. The fetus had intrauterine death at 7 months of gestation.

Conclusion

This case highlights the importance of early prenatal diagnosis of alobar HPE, the most severe form, using transabdominal ultrasonography (USG) and transvaginal USG. Prompt prenatal imaging is crucial for early diagnosis of alobar HPE, enhancing antenatal care, and facilitating improved family planning strategies to alleviate potential psychological distress due to its poor prognosis. Our documentation of such a rare condition is essential to help create a comprehensive database of similar cases.