Maria Verderio

Parental counseling in trisomy 18: Novel insights in prenatal features and postnatal survival.

Data on the outcome of trisomy T18 (T18) when diagnosed during pregnancy are lacking. We performed a retrospective study of pregnancies complicated by T18 diagnosed at our center and a literature search for publications on the topic, with pooled estimates of survival rates at different gestational and post‐natal ages. In our series, all the 60 patients included in the analysis had prenatally detected ultrasound anomalies, which were evidenced in the first trimester or at the second trimester scan in 73% of cases. In the continued pregnancies, ultrasound findings did not correlate with prenatal or post‐natal outcome. A meta‐analysis of available literature and our data showed that 48% [37–60%] of fetuses were live born, and among these 39% [11–72%] survived beyond 48 hr and 11% [3–21%] beyond 1 month. Our results confirm that prenatal ultrasound has high sensitivity in detection of T18 but is not predictive of the outcome of the continued pregnancies. The data on survival support that T18, even when antenatally diagnosed, cannot be considered as a uniformly lethal syndrome.

Collagenopathy with a phenotype resembling silver–russell syndrome phenotype

Collagenopathy With a Phenotype Resembling Silver–Russell Syndrome Phenotype Paola Cianci, Giuseppe Paterlini, Paolo Tagliabue, Maria Verderio, Patrizia Vergani, Maria Luisa Bianchi, Carlo Giussani, Gaia Kullmann, Fabio Mazzoleni, Alberto Bozzetti, and Angelo Selicorni* Pediatric Department at Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, Pediatric Genetic Unit, San Gerardo Hospital, Monza, Italy Pediatric Department at MBBM Foundation, Neonatal Intensive Care Unit, San Gerardo Hospital, Monza, Italy Obstetrics and Gynecology Department at MBBM Foundation, San Gerardo Hospital, Monza, Italy Bone Metabolism Unit, Istituto Auxologico Italiano, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Milano, Italy Neuroscience and Biomedical Technology Department, Neurosurgery Unit, University of Milano Bicocca, San Gerardo Hospital, Monza, Italy Childhood Neuropsychiatry Department, University of Milano-Bicocca, San Gerardo Hospital, Monza, Italy Maxillofacial Surgery Department, University of Milano-Bicocca, San Gerardo Hospital, Monza, Italy

2D versus 3D real time ultrasound with live xPlane imaging to visualize aortic and ductal arches: comparison between methods

Background The diagnosis of congenital heart defects is challenging, especially for what concerns conotruncal anomalies. Indeed, although the screening techniques of fetal cardiac anomalies have greatly improved, the detection rate of conotruncal anomalies still remains low due to the fact that they are associated with a normal four-chamber view. Therefore, the study aimed to compare real-time three-dimensional echocardiography with live xPlane imaging with two-dimensional (2D) traditional imaging in visualizing ductal and aortic arches during routine echocardiography of the second trimester of gestation. Methods This was an observational prospective study including 114 women with uncomplicated, singleton pregnancies. All sonographic studies were performed by two different operators, of them 60 by a first level operator, while 54 by a second level operator. A subanalysis was run in order to evaluate the feasibility and the time needed for the two procedures according to fetal spine position and operator’s experience. Results The measurements with 2D ultrasound were performed in all 114 echocardiographies, while live xPlane imaging was feasible in the 78% of the cases, and this was mainly due to fetal position. The time lapse needed to visualize aortic and ductal arches was significantly lower when using 2D ultrasound compared to live xPlane imaging (29.56 ± 28.5 s vs. 42.5 ± 38.1 s, P = 0.006 for aortic arch; 22.14 ± 17.8 s vs. 37.1 ± 33.8 s, P = 0.001 for ductal arch), also when performing a subanalysis according to operators’ experience (P < 0.05 for all comparisons). Feasibility of live xPlane proved to be correlated with the position of the fetal spine and the operator’s experience. Discussion To find a reproducible and standardized method to detect fetal heart defects may bring a great benefit for both patients and operators. In this scenario live xPlane imaging is a novel method to visualize ductal and aortic arches. We found that the position of the fetal spine may affect the feasibility of the method since, when the fetal back is anterior or transverse, the visualization of the correct view of three-vessels and trachea in order to set the reference line properly becomes more challenging. In addition, the fetal spine position influences the duration of the ultrasound examination. Regarding operator’s skills and experience, in our study a first level operator was able to perform the complete 2D and xPlane examination in a lower number of cases compared to second level operators. In addition, the time required for the complete examination was higher for first level operators. This means that this technique is based on an adequate operators’ expertise.