Prenatal Diagnosis
Abstract Objective To explore genetic variation including whole genome copy number variation and sequence analysis of 98 genes associated with pediatric or adult cardiomyopathies, cardiac channelopathies, and sudden death in an unexplained intrauterine fetal death cohort. Methods The study population included 55 stillbirth cases that remained unexplained...
Abstract Objectives We evaluated fetal cardiovascular physiology and mode of cardiac failure in premature miniature piglets on a pumped artificial placenta (AP) circuit. Methods Fetal pigs were cannulated via the umbilical vessels and transitioned to an AP circuit composed of a centrifugal pump and neonatal oxygenator and maintained in a fluid-filled...
Abstract Objective To determine if the presence of fetal growth restriction (FGR) is associated with an increased risk of genetic abnormalities in the setting of congenital heart disease (CHD). Methods This was a retrospective cohort study involving pregnancies that met the following criteria: (i) prenatal diagnosis of CHD, (ii) singleton live-birth,...
Abstract Objective To evaluate the performance of prenatal screening for common autosomal trisomies in twin pregnancies through the use of rolling-circle replication (RCR)-cfDNA as a first-tier test. Method Prospective multicenter study. Women who underwent prenatal screening for trisomy (T) 21, 18 and 13 between January 2019 and March 2022 in twin...
Abstract Objective We aim to provide a template structured report of fetal Magnetic Resonance Imaging in congenital diaphragmatic hernia (CDH) that was locally validated by the CDH study group in Mannheim. Methods A selection of 50 fetal MRIs of patients with an isolated diaphragmatic hernia and associated radiology reports from five different senior...
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