title: Dandy-Walker malformation diagnosed before 21 weeks of gestation: associated malformations and chromosomal abnormalities.
abstract: This study examined rates of concomitant structural and chromosomal abnormalities in 14 fetuses with a diagnosis of Dandy-Walker malformation or Dandy-Walker variant before 21 weeks' gestational age, compared to 14 fetuses with a diagnosis of Dandy-Walker malformation or variant between 21 weeks' gestation and delivery. A total of 24 fetuses had Dandy-Walker malformation and four had Dandy-Walker variant. Eight of the fetuses with the malformation had ventriculomegaly: one of the fetuses with early diagnosis and seven with later diagnosis (p = 0.027). None of the fetuses with Dandy-Walker variant had ventriculomegaly. The overall prevalence of concomitant structural abnormalities was 13/28; 8/14 for fetuses with early prenatal diagnosis and 5/14 for fetuses with late prenatal diagnosis of the malformation or the variant. Chromosomal abnormality rates were significantly higher among fetuses with early prenatal diagnosis (7/14) than among those with later prenatal diagnosis (1/14; p = 0.032). Abnormal karyotypes were more prevalent among fetuses without ventriculomegaly (7/20), compared to fetuses with ventriculomegaly (1/8). We conclude that fetuses with an antenatal diagnosis of Dandy-Walker malformation or Dandy-Walker variant before 21 weeks' gestational age have worse prognosis than fetuses with a later prenatal diagnosis of the same defect.
authors.affiliation: Department of Obstetrics and Gynecology, University Hospital of Vienna, Austria.
authors.forename: B
authors.initials: B
authors.lastname: Ulm
authors.forename: M R
authors.initials: MR
authors.lastname: Ulm
authors.forename: J
authors.initials: J
authors.lastname: Deutinger
authors.forename: G
authors.initials: G
authors.lastname: Bernaschek
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations / Q000000981:diagnostic imaging*; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D016001:Confidence Intervals; D003616:Dandy-Walker Syndrome / Q000000981:diagnostic imaging*; D003937:Diagnosis, Differential; D005260:Female; D005313:Fetal Death / Q000453:epidemiology; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D002538:Intracranial Arteriovenous Malformations / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011256:Pregnancy Outcome; D012189:Retrospective Studies; D012680:Sensitivity and Specificity; D014314:Trisomy; D016216:Ultrasonography, Prenatal