P. Volpe

Characteristics, associations and outcome of partial agenesis of the corpus callosum in the fetus

To report, in a population of fetuses diagnosed with partial agenesis of the corpus callosum (PACC), the sonographic characterization, incidence of cerebral, extracerebral and chromosomal anomalies, and outcome. In addition, in some of our cases a comparison was made between findings on ultrasound and fetal magnetic resonance imaging (MRI).

Disorders of prosencephalic development

Abnormal ventral induction may result in disorders of formation, cleavage, and midline development of prosencephalic structures. Holoprosencephaly is a developmental field defect of impaired cleavage of prosencephalon. The most widely accepted classification of holoprosencephaly recognizes three major varieties: the alobar, semilobar and lobar types, according to the severity of the malformation. The brain malformations, characterized by the fusion of the cerebral hemisphere along the midline are commonly associated with facial anomalies.

Characteristics, associations and outcome of absent pulmonary valve syndrome in the fetus

To assess in a population of 21 fetuses diagnosed with absent pulmonary valve syndrome (APVS) the accuracy of prenatal diagnosis, the incidence of extracardiac and chromosomal anomalies and the perinatal outcome.

Novel application of 4D sonography with B-flow imaging and spatio-temporal image correlation (STIC) in the assessment of the anatomy of pulmonary arteries in fetuses with pulmonary atresia and ventricular septal defect

To assess the reliability of two‐dimensional gray‐scale (2D) and color Doppler echocardiography in the study of the size and anatomy of the central pulmonary arteries and of the sources of pulmonary blood flow in a case series of fetuses with pulmonary atresia and ventricular septal defect (PA‐VSD), and to evaluate whether the use of 4D ultrasound with B‐flow imaging and spatio‐temporal image correlation (STIC) can improve prenatal diagnostic accuracy.

Common arterial trunk in the fetus: characteristics, associations, and outcome in a multicentre series of 23 cases

Objective: To assess the accuracy of prenatal diagnosis, the incidence of extracardiac and chromosomal anomalies, and the perinatal outcome in a population of fetuses with common arterial trunk (CAT). Design: Observational study of 23 fetuses from three referral centres with a confirmed diagnosis of CAT. All underwent fetal echocardiography, detailed anatomical scanning, and karyotyping. In 19 cases, FISH analysis was done to detect 22q11 microdeletion. The following variables were evaluated: gestational age at diagnosis, anatomical variants of the CAT, presence of extracardiac and chromosomal anomalies, pregnancy, and fetal–neonatal outcome. Necropsy reports and postnatal files were available for confirmation of the prenatal diagnosis in all cases. Results: The prenatal diagnosis proved correct in 23 of 24 cases, the last being pulmonary atresia with ventricular septal defect (PAVSD). A second cardiovascular anomaly was present in eight cases (34.8%); extracardiac anomalies were found in 10 (43.4%). FISH analysis showed 22q11 microdeletion in six of 19 cases (31.6%). Outcomes were as follows: eight terminations of pregnancy (34.8%), two intrauterine deaths (8.7%), five postnatal deaths (before or after surgery) (21.7%); the remaining eight neonates (34.8%) are alive and thriving after surgery (six) or awaiting surgery (two). Conclusions: CAT can be reliably diagnosed and characterised in prenatal life, although differentiation from PAVSD may be challenging. The association with chromosomal anomalies is consistent (8.7%), but there is a higher risk of 22q11 microdeletion (31.6%), in agreement with postnatal studies. The relatively poor survival rate (34.8%) reflects the high rate of terminations and the unfavourable cardiac anatomy in some cases.

FISH and cytogenetic characterization of a terminal chromosome 1q deletion: Clinical case report and phenotypic implications

We report a 24‐year‐old woman with minor facial anomalies, mental retardation, seizures, and partial agenesis of the corpus callosum. Cytogenetic analysis showed a de novo terminal chromosome 1 long arm deletion. FISH with a panel of chromosome 1q42‐qter bands‐specific BAC and YAC clones located the breakpoint at the 1q42‐q43 junction, with monosomy restricted to the 1q43 and 1q44 bands. The changing craniofacial phenotype of this patient with age is described as part of the del(1)(q) syndrome natural history. The patients features are compared with those of other patients with similar deletions, and variable phenotypic findings due to different deleted chromosomal segments are discussed.

Two- and four-dimensional echocardiography with B-flow imaging and spatiotemporal image correlation in prenatal diagnosis of isolated total anomalous pulmonary venous connection.

To explore whether the use of four dimensional (4D) ultrasound examination with B‐flow imaging and spatiotemporal image correlation (STIC) can supply additional information with respect to two‐dimensional (2D) gray‐scale and color Doppler echocardiography in the prenatal characterization of isolated total anomalous pulmonary venous connection (TAPVC).

Fetal cardiac evaluation at 11–14 weeks by experienced obstetricians in a low‐risk population

The aim of this study was to evaluate the detection rate of congenital heart diseases (CHD) in a low‐risk population by performing cardiac evaluation during the first‐trimester screening for chromosomal abnormalities. In this context, the role of four‐chamber view, tricuspid regurgitation and abnormal ductus venosus flow in the screening for cardiac anomalies in a low‐risk population was also investigated.

Diagnosis, characterization and outcome of congenitally corrected transposition of the great arteries in the fetus: A multicenter series of 30 cases

To describe the anatomy, associated anomalies and outcome of 30 cases of congenitally corrected transposition of the great arteries (ccTGA) detected prenatally.

Transposition of the great arteries in the fetus: assessment of the spatial relationships of the arterial trunks by four‐dimensional echocardiography

Coronary arterial abnormalities can be one of the few negative prognostic indicators in transposition of the great arteries (TGA), and their occurrence is related to the type of spatial relationship of the great arteries. The main objective of this study was to assess whether the use of the reconstructed en‐face view with color Doppler imaging of the four cardiac valves can demonstrate the different types of spatial relationship of the arterial trunks in fetuses with TGA, in order to derive the risk of coronary abnormalities. A secondary end‐point was the evaluation of the type of coronary arterial branching pattern.