Albert Tubau

Real-World Application of Trio-Based Exome Sequencing in Prenatal Genetic Diagnosis

Juan Antonio Jiménez-Barceló, María Rosa Martorell-Riera, Ángeles Pérez‐Granero, Laura Torres‐Juan et autres

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Maternal Genotype and Dietary Vitamin A Modify Aortic Arch Phenotypes in a Mouse Model of 22q11DS

Emilia Amengual-Cladera, Maria Victòria Llull-Alberti, Marc Ventayol‐Guirado, Juan Antonio Jiménez-Barceló et autres

Congenital heart defects (CHDs) occur in 50–75% of patients with 22q11.2 deletion syndrome (22q11.2DS), ranging from mild to severe manifestations. The genetic and environmental factors contributing to variable CHD phenotypes in 22q11.2DS are largely unknown. In this study, we used a mouse …

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Real-World Application of Trio-Based Exome Sequencing in Prenatal Genetic Diagnosis: a prospective study

Juana M. Barceló, Alexander Damià Heine-Suñer, Melchor Riera, Ángeles Pérez‐Granero et autres

Design Prospective cohort study. Objective We assessed the diagnostic yield of trio-based WES (fetus and both parents) in pregnancies with sonographic findings and prior negative results from quantitative fluorescent PCR (QF-PCR), conducted in parallel with CMA. Settings Prenatal genetic testing was conducted …

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Anomalies on anterior and posterior complex views in fetuses with partial agenesis of corpus callosum

Fernando Nuez Viñals, F. Correa, Raquel Garcia Rodriguez, Albert Tubau et autres

OBJECTIVE: The aim of the present study was to describe abnormal anatomical features of the anterior (AC) and posterior (PC) complexes identified during basic ultrasound assessment of the fetal brain in cases diagnosed with partial agenesis of the corpus callosum (pACC). METHODS: …

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Angiogenic factors versus fetomaternal Doppler for fetal growth restriction at term: an open-label, randomized controlled trial

Pablo García‐Manau, Erika Bonacina, Raquel Martin-Alonso, Lourdes Martín et autres

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OC13.04: sFlt1/PlGF ratio in the management of pre‐eclampsia: a multicentre, randomised controlled trial – EuroPE trial

Elisa Llurba, Pablo García‐Manau, Mario Julio Mendoza, Begoña Muñoz et autres

To assess the utility of placental growth factor (PlGF) and soluble fms-like tyrosine kinase-1 (sFlt-1) in diagnosing and classifying PE, with a focus on improving maternal outcomes and reducing unnecessary interventions. This parallel-group, open-label, multicentre, randomised controlled trial was conducted at 17 …

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Multicentre randomised trial of screening with sFlt1/PlGF and planned delivery to prevent pre-eclampsia at term: protocol of the PE37 study

Elisa Llurba, F. Crispi, F. Crovetto, L. Youssef et autres

INTRODUCTION: Pre-eclampsia affects ~5%-7% of pregnancies. Although improved obstetric care has significantly diminished its associated maternal mortality, it remains a leading cause of maternal morbidity and mortality in the world. Term pre-eclampsia accounts for 70% of all cases and a large proportion …

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The Fetal Growth Restriction at Term Managed by Angiogenic Factors Versus Feto-Maternal Doppler (GRAFD) Trial to Avoid Adverse Perinatal Outcomes: Protocol for a Multicenter, Open-Label, Randomized Controlled Trial

Pablo García‐Manau, Manel Mendoza, Erika Bonacina, Raquel Martin-Alonso et autres

BACKGROUND: Fetal smallness affects 10% of pregnancies. Small fetuses are at a higher risk of adverse outcomes. Their management using estimated fetal weight and feto-maternal Doppler has a high sensitivity for adverse outcomes; however, more than 60% of fetuses are electively delivered …

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Management of fetal Growth Restriction at term by Angiogenic Factors versus feto-maternal Doppler (GRAFD) to avoid adverse perinatal outcomes: multicenter open-label randomized controlled trial study protocol (Preprint)

Pablo García‐Manau, Manel Mendoza, Erika Bonacina, Raquel Martin-Alonso et autres

BACKGROUND Fetal smallness affects 10% of pregnancies. These fetuses are at a higher risk of adverse outcomes. Their management using estimated fetal weight (EFW) and feto-maternal Doppler has a high sensitivity for adverse outcomes; however, more than 60% of fetuses are electively …

Effectiveness of Ultrasound Screening for a Placenta Accreta Spectrum Using Standard Ultrasound Criteria in a Secondary Care Setting

Miquel Juan-Clar, Marta Torrent, Pere Santandreu, Eva Arejola et autres

OBJECTIVES: Ultrasound detection of a placenta accreta spectrum (PAS) among women at risk is a key goal to reduce obstetric morbidity, but there is scarce information on its performance in real clinical settings. We report the effectiveness of a standardized ultrasound protocol …

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The association between SARS-CoV-2 infection and preterm delivery: a prospective study with a multivariable analysis

Óscar Martínez Pérez, Pilar Prats, Marta Muner Hernandez, María Begoña Encinas Pardilla et autres

BACKGROUND: To determine whether severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, the cause of COVID-19 disease) exposure in pregnancy, compared to non-exposure, is associated with infection-related obstetric morbidity. METHODS: We conducted a multicentre prospective study in pregnancy based on a universal antenatal …

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Obstetric Outcomes of SARS-CoV-2 Infection in Asymptomatic Pregnant Women

Monica Cruz-Lemini, Elena Perez, María Luisa de la Cruz, África Caño Aguilar et autres

Around two percent of asymptomatic women in labor test positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in Spain. Families and care providers face childbirth with uncertainty. We determined if SARS-CoV-2 infection at delivery among asymptomatic mothers had different obstetric outcomes …

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