Dandy-Walker malformation: prenatal diagnosis and outcome

Prenatal ultrasound identified Dandy-Walker malformation (DWM) in ten singl eton pregnancies with concurrent central nervous system (CNS) anomalies and extra-CNS anomalies in eight cases. DWM was confirmed by postnatal magneti c resonance imaging (MRI) or pathological examination in nine cases. Karyot ypes were normal in the seven infants tested. Postnatal neurological and de velopmental testing in the five survivors showed a spectrum of clinical out come from minor defects to severe handicap. Postnatal investigation also di sclosed additional CNS and extra-CNS findings not detected on ultrasound, a s did autopsy in the other five infants. However, ultrasound diagnosis of D WM is accurate and is an indication for exhaustive screening for concurrent anomalies both within and outside the CNS and in chromosome structure and number, as the prognosis is heavily dependent on associated malformations a nd karyotype. Copyright (C) 2000 John Wiley & Sons, Ltd.