A. Perolo

Outcome of antenatally diagnosed intracranial hemorrhage: case series and review of the literature

Prenatal diagnosis of intracranial hemorrhage (ICH) has been widely reported. Hemorrhages may occur either within the cerebral ventricles, subdural space or infratentorial fossa. The aim of this study was to determine the sonographic criteria for the diagnosis of fetal ICH, the role of in utero magnetic resonance imaging (MRI) and the outcome of this condition.

Diagnosis of midline anomalies of the fetal brain with the three‐dimensional median view

To investigate the effectiveness of a simplified approach to the evaluation of the midline structures of the fetal brain using three‐dimensional (3D) ultrasound.

Three‐dimensional ultrasound examination of the fetal central nervous system

The technique used to obtain an ultrasound volume is adequately described by three elements: (1) the section that is used to start the acquisition of the volume (referred to in the following as the ‘start’ scan); (2) the angle of rotation of the mechanical sweep of the motorized probe; and (3) the quality of the acquisition that can be varied by the operator and depends on the number of sections obtained during the acquisition. Both the angle of rotation and the quality of the volume influence the acquisition time and, when this is too long, the probability of movement artifacts increases. Tailoring the size and quality of the volumes to the specific diagnostic requirements is important because it increases the efficiency of the scan. In the following we provide information for each of the applications discussed. The modalities for the analysis of ultrasound volumes have been described in depth previously4,16,17. The multiplanar mode is most frequently used for assessment of the fetal CNS6,10,13,14. With this mode of display, the plane parallel to the acquisition plane or ‘start’ appears in the upper left corner of the screen and is identified with the letter A; the plane perpendicular to A but parallel to the ultrasound beam is identified with the letter B and appears in the upper right corner. The plane that is both perpendicular to the ‘start’ scan and the ultrasound beam is defined as C, and is frequently referred to as the coronal plane17 (Figure 1). The terminology may sound confusing at times. As discussed later, when dealing with the fetal brain, the coronal plane of the volume typically demonstrates a sagittal or axial section of the fetal head13. Although 3D ultrasound imaging can be used in many ways to evaluate the fetal (CNS), we have found that in practice there are mainly two useful applications: the multiplanar analysis of volumes obtained with an axial approach6,13 and the multiplanar analysis of volumes obtained from a sagittal or coronal approach12,14. 3D ultrasound examination can assist in evaluation of the spine18 and is particularly helpful in early neurosonographic studies1–3,5,19. It may also be used to improve the quality of two-dimensional (2D) images. These aspects are described separately below.

The clinical significance of prenatally diagnosed choroid plexus cysts

The choroid plexus cyst is one of many malformations of the central nervous system that can be detected in utero by ultrasonography. Choroid plexus cysts occur in 2.3% of fetuses. Because previous reports have shown an association between choroid plexus cysts and chromosomal anomalies, we analyzed 82 prenatally diagnosed cases, 65 of whom had chromosome analysis performed. Of the group, 6.2% had chromosomal anomalies of the trisomy 18 type. The remaining 17 cases were clinically normal at birth. These cases of trisomy 18 were also associated with multiple structural anomalies. Therefore, we suggest that after the diagnosis of choroid plexus cysts is made, a complete ultrasonographic survey of the fetal anatomy be performed. Fetal karyotype determination may be offered to patients, especially in the presence of structural anomalies.

Ultrasound of the fetal central nervous system.

Current ultrasound equipment allows the antenatal identification of many central nervous system anomalies from early gestation. In selected cases, special techniques (transvaginal sonography, three-dimensional ultrasound, colour Doppler) may enhance the diagnostic potential. Diagnostic accuracy, however, remains heavily dependent upon the expertise of the sonologist. Fetal ultrasound is effective in identifying neural tube defects, although alpha-fetoprotein screening seems to yield a greater sensitivity. The sensitivity in the diagnosis of central nervous system malformations other than neural tube defects remains unclear because of the ascertainment biases of the few large prospective studies that have been carried out so far. Magnetic resonance imaging may play a major role in the evaluation of cases with suboptimal ultrasound visualization, or when specific anomalies are suspected, such as intracranial haemorrhage or migrational disorders.

Identification of circulating placental mRNA in maternal blood of pregnancies affected with fetal congenital heart diseases at the second trimester of pregnancy: implications for early molecular screening

To investigate whether a significantly aberrant expression of circulating placental mRNA genes related with cardiogenesis can be detected at the second trimester of pregnancy.

Prenatal diagnosis of cerebral lesions acquired in utero and with a late appearance

Although no precise figures are available, many congenital brain lesions arise from intrauterine disruption, frequently due to obstetric complications. The most common entities include intracranial hemorrhage, ischemic lesions, thrombosis of venous vessels and infections. Accurate prenatal diagnosis is possible in many of these cases. However, the findings may be subtle, particularly in the early stage of the disruptive process. Identification of these conditions requires therefore specific expertise, the combination of fetal neurosonography and magnetic resonance, and frequently there is a need for serial examinations. Targeted diagnostic imaging should be offered to obstetric patients with conditions predisposing to prenatal cerebral insults. Copyright

Bilateral cleft lip and palate without premaxillary protrusion is associated with lethal aneuploidies.

To investigate the clinical implications of two categories of fetal bilateral cleft lip and palate (BCLP): with premaxillary protrusion and with a flattened profile.

Maternal plasma mRNA species in fetal heart defects: a potential for molecular screening

To verify the hypothesis that aberrant placental mRNA genes related to cardiogenesis can be detected in maternal plasma at the second trimester of pregnancy.

Heart transplantation in infants with idiopathic hypertrophic cardiomyopathy

Abstract:  Whereas it is well known that idiopathic HCM can present in newborns and infants, little information is available on HT in this very young age group. We report a series of 17 infants with idiopathic HCM, including two neonates with rapidly progressive severe HF for whom HT was necessary. When HF manifests in a newborn/infant with idiopathic HCM and extreme cavity size reduction, the possibility of a rapidly progressive clinical course should be anticipated and HT may become the only available therapeutic solution.