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Prenatal diagnosis, phenotypic and obstetric characteristics of holoprosencephaly

Gábor J Joó1, Artúr Beke, Csaba Papp

  • 1Semmelweis University Medical School I., Department of Obstetrics and Gynecology, Budapest, Hungary. joogabor@noil.sote.hu

Fetal Diagnosis and Therapy
|April 13, 2005
PubMed

Insights

Diagnosing fetal central nervous system malformations is crucial for genetic counseling and managing holoprosencephaly. Early detection aids prognosis and reduces emotional impact, especially with craniofacial anomalies.

Area of Science:

  • Medical Genetics
  • Fetal Medicine
  • Developmental Biology

Background:

  • Fetal malformations, particularly central nervous system (CNS) anomalies, significantly impact genetic counseling.
  • Early diagnosis is vital for prognosis and mitigating the emotional distress associated with craniofacial malformations.

Purpose of the Study:

  • To summarize obstetrical and diagnostic characteristics for holoprosencephaly management.
  • To analyze anatomical, diagnostic, and clinical aspects of holoprosencephaly, including associated craniofacial malformations.

Main Methods:

  • Retrospective analysis of 50 holoprosencephaly cases encountered between 1981 and 2000.
  • Review of anatomical, diagnostic, and clinical data.
  • Assessment of associated craniofacial malformations.

Main Results:

  • Detailed characterization of 50 holoprosencephaly cases.
  • Identification of key diagnostic and clinical features.
  • Documentation of associated craniofacial anomalies in the studied cohort.
  • Verification of familial recurrence in one case.

Conclusions:

  • The comprehensive analysis provides valuable insights for managing holoprosencephaly.
  • Understanding associated malformations is essential for accurate diagnosis and counseling.
  • The study highlights the importance of detailed case review in fetal medicine.

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