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Objective To identify criteria useful for differentiating closed from open spina bifida antenatally. Patients and methods A retrospective study of cases of spina bifida diagnosed in a referral center between 1997 and 2004. Results Of 66 cases of fetal spina bifida diagnosed at a median gestational age of 21 (range, 16–34) weeks, detailed follow-up was available for 57. Of these, open defects were found in 53 (93.0%) and closed defects in four (7.0%). Closed spina bifida was associated in two cases with a posterior cystic mass with thick walls and a complex appearance, while in two cases the spinal lesion could not be clearly differentiated from an open defect, particularly at mid-gestation. Open spina bifida was always associated with typical alterations of cranial anatomy, including the so-called ‘banana’ and ‘lemon’ signs, while in closed spina bifida the cranium was unremarkable. When the data were available, levels of amniotic fluid alpha-fetoprotein were always abnormally elevated with open spina bifida and within normal limits with closed forms. Conclusion In this study 7% of cases of spina bifida diagnosed in utero were closed. The differentiation between open and closed forms is best shown by the sonographic demonstration of abnormal or normal cranial anatomy. Copyright © 2006 ISUOG. Published by John Wiley & Sons, Ltd.

Objective To assess the feasibility of the prenatal diagnosis using fetal neurosonography of brain injuries in the surviving fetus after the demise of a monochorionic cotwin. Methods This was a retrospective observational study in the period 1990–2004 of monochorionic twin pregnancies with a single fetal demise. A detailed sonographic evaluation of the intracranial anatomy of the surviving twin had been performed whenever possible using a multiplanar approach and from 1999, fetal magnetic resonance imaging was offered as well. Postnatal follow-up was obtained in all cases. Results In six of nine cases, abnormal neurosonographic findings were identified including intracranial hemorrhage, brain atrophy, porencephaly and periventricular echogenicities evolving into polymicrogyria. Prenatal diagnosis of brain lesions was confirmed postnatally and all affected infants who survived had severe neurological sequelae. Two fetuses had normal cerebral structures both on the prenatal neurosonogram and on postnatal imaging and were following normal developmental milestones, one at 1 and the other at 5 years of age. In one case the neurosonographic examination was suboptimal and the infant was found at birth to have a porencephalic cyst. Fetal magnetic resonance imaging was performed in two cases and confirmed the ultrasound diagnosis. Conclusions Prenatal neurosonography is a valuable tool for the prediction of neurological outcome in fetuses surviving after the intrauterine death of a monochorionic cotwin. Although our experience is limited, we suggest that magnetic resonance imaging should also be offered. Copyright © 2006 ISUOG. Published by John Wiley & Sons, Ltd.

Objective To investigate the effectiveness of a simplified approach to the evaluation of the midline structures of the fetal brain using three-dimensional (3D) ultrasound. Methods Sonographic examinations were performed in normal fetuses and in cases with anomalies involving the midline cerebral structures. Two-dimensional (2D) median planes were obtained by aligning the transducer with the anterior fontanelle and midline sutures by either transabdominal or transvaginal scans. Median planes were also reconstructed using 3D ultrasonography from volumes acquired from transabdominal axial planes of the fetal head (3D median planes), by either multiplanar analysis of static volumes or volume contrast imaging in the coronal plane (VCI-C). 2D and 3D median planes were compared qualitatively and quantitatively by measuring the corpus callosum and cerebellar vermis. Results 2D median planes could be visualized in 54/56 normal fetuses. 3D median planes were obtained in all, usually more easily and rapidly. There was a good correlation between 2D and 3D images. Measurements of the corpus callosum and cerebellar vermis were highly correlated, with mean variations of 6% and 14%, respectively. The abnormal group included 13 fetuses (five with partial or complete agenesis of the corpus callosum, six with posterior fossa malformations, two with a combination of these two anomalies). In all cases the diagnosis could be made by both 2D and 3D views and was always confirmed by postnatal investigation. Although 2D median views were of better quality, 3D images were always adequate for diagnosis, both in normal and abnormal fetuses. Conclusions 3D median planes are obtained more easily than 2D ones, and allow an accurate diagnosis of normal cerebral anatomy and anomalies. The 3D approach may be valuable particularly for rapid assessment of fetal cerebral anatomy in standard examinations. Copyright © 2006 ISUOG. Published by John Wiley & Sons, Ltd.

Objective To investigate the clinical implications of two categories of fetal bilateral cleft lip and palate (BCLP): with premaxillary protrusion and with a flattened profile. Methods This was a retrospective study of fetuses with a prenatal diagnosis of BCLP at the Department of Obstetrics and Gynecology of the University of Bologna in the period 1991–2005. Results BCLP was diagnosed prenatally in 14 cases (mean gestational age at diagnosis, 21 (range, 12–36) weeks). In nine of these, there was a premaxillary pseudomass; in the remaining five, the profile was flat. Associated structural and/or chromosomal anomalies were found in two of the nine with a premaxillary pseudomass and in all five of those with a flat profile (P = 0.02). All fetuses with a flat profile had aneuploidies (three trisomy 18, one trisomy 13, one trisomy 8 mosaic), as did one of the nine with a premaxillary pseudomass. Eight of the pregnancies were terminated, including three of those with a premaxillary pseudomass and all five of those without. All continuing pregnancies resulted in live births, although one neonate affected by Krabbe's disease died shortly after birth. Conclusions Our findings suggest that a third of cases of BCLP diagnosed in utero have a flat profile and these are at high risk of lethal aneuploidies. Copyright © 2009 ISUOG. Published by John Wiley & Sons, Ltd.