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Total anomalous pulmonary venous return (TAPVR) is a high risk and rare cardiac malformation with a low prenatal detection rate and predicting obstruction in these cases is difficult. We sought to investigate fetal echocardiographic parameters associated with postnatal pulmonary venous obstruction (PPVO). We performed a retrospective review of 26 patients with TAPVR who had a fetal echocardiogram from 2010 to 2021.

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Prenatal diagnosis of congenital anomalies and birth institution complexity levels in Argentina.

J Community Genet

January 2025

Red Nacional de Anomalías Congénitas (RENAC), Instituto Nacional de Epidemiología, ANLIS Malbrán, Buenos Aires, Argentina.

Patiens with major congenital anomalies diagnosed prenatally should be referred to and delivered in institutions with the appropriate level of complexity, as this reduces morbidity and mortality. We aimed to assess the prevalence and prenatal diagnosis proportion of selected congenital abnormalities and the complexity levels of birth institutions in a sample of public maternity hospitals in Argentina. Data sources were (1) National Congenital Anomalies Registry, covering the period from 2013 to 2021; and (2) Categorization of birth institutions according to their complexity (high or low).

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Twin reversed arterial perfusion (TRAP) sequence is an uncommon disease affecting monochorionic twin pregnancies. The diagnosis can be made by ultrasound allowing to plan optimal antenatal management. An electronic search was conducted from inception to July 2024 to systematically evaluate and compare the outcomes of different intrauterine interventions in this condition.

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Bainbridge-Ropers Syndrome (BRPS) is a genetic condition resulting from truncating variants in the ASXL3 gene. The clinical features include neurodevelopmental and language impairments, behavioral issues, hypotonia, feeding difficulties, and distinctive facial features. In this retrospective study, we analyzed 22 Spanish individuals with BRPS, aiming to perform a detailed clinical and molecular description and establish a genotype-phenotype correlation.

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Objectives: To assess the feasibility of an intervention of midwifery support for antenatal pelvic floor muscle exercises (PFME) to prevent postnatal urinary incontinence (UI).

Design: Feasibility and pilot cluster randomised controlled trial. Clusters were community midwifery teams.

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