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.


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@article{Pilu1992PrenatalDO, title={Prenatal diagnosis of lobar holoprosencephaly.}, author={Gianluigi Pilu and Fabrizio Sandri and Antonella Perolo and Felice Giangaspero and Guido Cocchi and Gian Paolo Salvioli and Luciano Bovicelli}, journal={Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology}, year={1992}, volume={2 2}, pages={88-94} }