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Dandy-walker malformation: prenatal diagnosis and outcome
N Kölble1, J Wisser, J Kurmanavicius
1Unit of Perinatal Physiology, Department of Obstetrics, University Hospital, Zurich, Switzerland. nicole.koelble@fhk.usz.ch
Prenatal Diagnosis
|March 31, 2000
Summary
Prenatal ultrasound accurately detects Dandy-Walker malformation (DWM). This diagnosis necessitates comprehensive screening for associated central nervous system (CNS) and extra-CNS anomalies, as these impact prognosis.
Area of Science:
- Medical imaging
- Prenatal diagnosis
- Neurodevelopmental disorders
Background:
- Dandy-Walker malformation (DWM) is a congenital brain malformation.
- Accurate prenatal diagnosis is crucial for management and prognosis.
Observation:
- Prenatal ultrasound identified DWM in ten pregnancies.
- Concurrent central nervous system (CNS) and extra-CNS anomalies were present in eight cases.
- Postnatal investigations revealed additional anomalies not detected prenatally.
Findings:
- DWM diagnosis via ultrasound was confirmed postnatally in nine cases.
- Karyotypes were normal in tested infants.
- Survivors exhibited a range of neurological and developmental outcomes, from minor deficits to severe handicaps.
Implications:
- Prenatal ultrasound is a reliable tool for diagnosing DWM.
- Diagnosis of DWM warrants thorough screening for associated anomalies (CNS, extra-CNS, chromosomal).
- Prognosis is significantly influenced by the presence and type of associated malformations and karyotype.