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Relative prevalence and outcome of fetal posterior fossa abnormality

Nikita Garg1, Manisha Kumar2, Preeti Rai3

  • 1Department of Paediatrics, Southern Illinois University, Carbondale, Illinois, USA.

Journal of Paediatrics and Child Health
|November 1, 2022
PubMed

Insights

Posterior fossa abnormality (PFA) outcomes vary significantly by anomaly type. Associated anomalies worsen prognosis, particularly in Dandy-Walker malformation and vermian hypoplasia, impacting survival rates up to two years.

Area of Science:

  • Pediatric Neurology
  • Developmental Biology
  • Medical Genetics

Background:

  • Posterior fossa abnormalities (PFA) represent a group of congenital structural defects affecting brain development.
  • Understanding the incidence and outcomes of PFA is crucial for clinical management and genetic counseling.
  • Previous studies have reported varied outcomes, necessitating further investigation into specific PFA types.

Purpose of the Study:

  • To determine the relative incidence and survival outcomes of posterior fossa abnormalities (PFA) from birth to two years of age.
  • To analyze the association of PFA with other congenital anomalies and developmental delays.
  • To identify factors influencing the prognosis of different PFA subtypes.

Main Methods:

  • A prospective study was conducted, following fetuses diagnosed with PFA.
  • Outcomes were assessed for survival, presence of associated anomalies, and developmental delay via telephone interviews.
  • Data included diagnosis timing, gestational age at delivery, and specific PFA subtypes.

Main Results:

  • Of 76 fully followed PFA cases, Dandy-Walker malformation (DWM) was most common (50%), followed by mega cisterna magna (18.4%), Blake pouch cyst (13.2%), vermian hypoplasia (VH) (13.2%), and arachnoid cyst (5.2%).
  • Associated anomalies were present in 46.1% of cases. Overall survival at two years was 46.1%, with developmental delay in 9.2%.
  • Early diagnosis before 20 weeks occurred in only 15.8% of cases.

Conclusions:

  • The outcome of posterior fossa abnormalities (PFA) shows considerable variability, strongly dependent on the specific anomaly type.
  • Associated anomalies are frequently observed in vermian hypoplasia (VH) and Dandy-Walker malformation (DWM), leading to a poorer prognosis.
  • These findings highlight the importance of detailed subtyping and assessment for associated anomalies in predicting PFA outcomes.
Abstract

Keywords:
Blake pouch cystDandy-Walker malformationcentral nervous system anomalyhypoplastic vermismega cisterna magnaposterior fossa abnormality

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