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[Hereditary holoprosencephaly--late diagnosis in spite of recurrence]

F Geka1, A Reitter, F Louwen

  • 1Klinik für Frauenheilkunde und Geburtshilfe an der Johann Wolfgang Goethe- Universität Frankfurt am Main, Frankfurt, Germany. fani.geka@t-online.de

Zeitschrift Fur Geburtshilfe Und Neonatologie
|February 15, 2012
PubMed

Insights

Holoprosencephaly (HPE) is a severe brain malformation diagnosed early in pregnancy via ultrasound. Understanding HPE recurrence risk is crucial for families with affected previous pregnancies or partners with minor HPE signs.

Area of Science:

  • Neuroscience
  • Developmental Biology
  • Medical Genetics

Context:

  • Holoprosencephaly (HPE) is a congenital brain malformation impacting forebrain development during early gestation (18-28 days).
  • HPE exhibits variable expressivity, even within affected families, complicating genetic counseling.
  • Early diagnosis through first-trimester ultrasound (12-14 weeks) is possible, guided by fetal nervous system examination protocols.

Purpose:

  • To highlight the importance of early sonographic diagnosis of Holoprosencephaly (HPE).
  • To emphasize the need for intensified screening and molecular analysis in high-risk pregnancies.
  • To underscore the critical role of recurrence risk assessment for future pregnancies.

Summary:

  • Holoprosencephaly (HPE) diagnosis can be achieved via early sonography (12-14 weeks gestation).
  • Family history of fetal cerebral malformation or parental HPE signs warrants intensified ultrasound and molecular analysis.
  • While amniocentesis may be performed for basic analysis, recurrence risk information is vital for subsequent pregnancies.

Impact:

  • Facilitates timely diagnosis and management planning for Holoprosencephaly (HPE).
  • Enables informed reproductive decisions for families with a history of HPE.
  • Improves understanding of HPE's genetic and clinical variability for better patient care.

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