Prenatal diagnosis of lobar holoprosencephaly.
Lobar holoprosencephaly was identified with sonography in 12 fetuses between 21 and 35 weeks' gestation. A confident diagnosis was made in each case by a mid-coronal view of the brain demonstrating absence of the cavum septum pellucidum with fusion and squaring of the frontal horns. The only associated anomaly was Dandy-Walker malformation that occurred in three cases. All fetuses had mild to severe ventriculomegaly. Five pregnancies were terminated; there was one spontaneous abortion and six fetuses were delivered at term. A ventriculo-peritoneal shunt was implanted in four. Follow-up was available for five and revealed severe mental retardation in each case. Lobar holoprosencephaly is amenable to prenatal ultrasound diagnosis, although a differentiation with other cerebral malformations may be difficult at times. The outcome of affected infants remains uncertain, but neurological impairment occurs frequently.
Pilu
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G
Section of Prenatal Pathophysioloy, Department of Obstetrics and Gynecology, University of Bologna School of Medicine, Bologna, Italy.
Sandri
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F
Perolo
A
A
Giangaspero
F
F
Cocchi
G
G
Salvioli
G P
GP
Bovicelli
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L