Prenatal diagnosis and outcome of fetal posterior fossa fluid collections

Abstract

To evaluate the accuracy of fetal imaging in differentiating between diagnoses involving posterior fossa fluid collections and to investigate the postnatal outcome of affected infants. This was a retrospective study of fetuses with posterior fossa fluid collections, carried out between 2001 and 2010 in two referral centers for prenatal diagnosis. All fetuses underwent multiplanar neurosonography. Parents were also offered fetal magnetic resonance imaging (MRI) and karyotyping. Prenatal diagnosis was compared with autopsy or postnatal MRI findings and detailed follow-up was attempted by consultation of medical records and interview with parents and pediatricians. During the study period, 105 fetuses were examined, at a mean gestational age of 24 (range, 17-28) weeks. Sonographic diagnoses (Blake's pouch cyst, n = 32; megacisterna magna, n = 27; Dandy-Walker malformation, n = 26; vermian hypoplasia, n = 17; cerebellar hypoplasia, n = 2; arachnoid cyst, n = 1) were accurate in 88% of the 65 cases in which confirmation was possible. MRI proved more informative than ultrasound in only 1/51 cases. Anatomic anomalies and/or chromosomal aberrations were found in 43% of cases. Blake's pouch cysts and megacisterna magna underwent spontaneous resolution in utero in one third of cases and over 90% of survivors without associated anomalies had normal developmental outcome at 1-5 years. Isolated Dandy-Walker malformation and vermian hypoplasia were associated with normal developmental outcome in only 50% of cases. Prenatal neurosonography and MRI are similarly accurate in the categorization of posterior fossa fluid collections from mid gestation. Blake's pouch cyst and megacisterna magna are risk factors for associated anomalies but when isolated have an excellent prognosis, with a high probability of intrauterine resolution and normal intellectual development in almost all cases. Conversely, Dandy-Walker malformation and vermian hypoplasia, even when they appear isolated antenatally, are associated with an abnormal outcome in half of cases.