69 results match your criteria: "Center for Biomedical Research on Rare Diseases CIBER-ER[Affiliation]"
Minerva Obstet Gynecol
August 2021
Barcelona Center for Maternal-Fetal and Neonatal Medicine (BCNatal), Center for Biomedical Research on Rare Diseases (CIBER-ER), Instituto Clínic de Ginecología, Obstetricia y Neonatología (ICGON), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic and Hospital Sant Joan de Deu, University of Barcelona, Barcelona, Spain.
Fetal growth restriction is one of the most common obstetric complications, affecting 7-10% of all pregnancies. Affected fetuses are exposed to an adverse environment in utero during a critical time of development and may face long-term health consequences such as increased cardiovascular risk in adulthood. Growth restricted fetuses develop remodeled hearts with signs of systolic and diastolic dysfunction.
View Article and Find Full Text PDFMinerva Obstet Gynecol
August 2021
Barcelona Center for Maternal-Fetal and Neonatal Medicine, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), University of Barcelona, Barcelona, Spain -
A fraction of third-trimester small fetuses does not achieve their endowed growth potential mainly due to placental insufficiency, usually not evident in terms of impaired umbilical artery Doppler, but severe enough to increase the risk of perinatal adverse outcomes and long-term complications. The identification of those fetuses at higher-risk helps to optimize their follow-up and to decrease the risk of intrauterine demise. Several parameters can help in the identification of those fetuses at higher risk, defined as fetal growth restricted (FGR) fetuses.
View Article and Find Full Text PDFPlacenta
May 2021
Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Deu), IDIBAPS, University of Barcelona, And Center for Biomedical Research on Rare Diseases (CIBER-ER), Barcelona, Spain.
Placental-associated diseases account for most cases of adverse perinatal outcome in developing countries. Doppler evaluation has been incorporated as a predictive parameter at early pregnancy for high-risk placental disease, in the diagnosis and management of those fetuses with impaired intrauterine growth and for the evaluation of fetal wellbeing in those high-risk pregnancies. Uterine Doppler at second trimester predicts most instances of early-onset preeclampsia and intrauterine growth restriction.
View Article and Find Full Text PDFSci Rep
April 2021
BCNatal - Barcelona Center for Maternal-Fetal and Neonatal Medicine, Hospital Clínic and Hospital Sant Joan de Deu, University of Barcelona, Barcelona, Spain.
The objective of this study was to evaluate a novel automated test based on ultrasound cervical texture analysis to predict spontaneous Preterm Birth (sPTB) alone and in combination with Cervical Length (CL). General population singleton pregnancies between 18 + 0 and 24 + 6 weeks' gestation were assessed prospectively at two centers. Cervical ultrasound images were evaluated and the occurrence of sPTB before weeks 37 + 0 and 34 + 0 were recorded.
View Article and Find Full Text PDFDev Neurosci
November 2021
BCNatal | Fetal Medicine Research Center (Hospital Clínic and Hospital Sant Joan de Déu), Universitat de Barcelona, Barcelona, Spain.
Background: Intrauterine growth restriction (IUGR) is associated with abnormal neurodevelopment, but the associated structural brain changes are poorly documented. The aim of this study was to describe in an animal model the brain changes at the cellular level in the gray and white matter induced by IUGR during the neonatal period.
Methods: The IUGR model was surgically induced in pregnant rabbits by ligating 40-50% of the uteroplacental vessels in 1 horn, whereas the uteroplacental vessels of the contralateral horn were not ligated.
Hum Mutat
February 2021
Unit-703 Center for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Madrid, Spain.
Signal sequence receptor protein 4 (SSR4) is a subunit of the translocon-associated protein complex, which participates in the translocation of proteins across the endoplasmic reticulum membrane, enhancing the efficiency of N-linked glycosylation. Pathogenic variants in SSR4 cause a congenital disorder of glycosylation: SSR4-congenital disorders of glycosylation (CDG). We describe three SSR4-CDG boys and review the previously reported.
View Article and Find Full Text PDFUltrasound Obstet Gynecol
January 2021
Barcelona Center for Maternal-Fetal and Neonatal Medicine, Hospital Clínic and Hospital Sant Joan de Déu, IDIBAPS, University of Barcelona, Barcelona, Spain.
Objective: To report our 10-year experience of protocol-based management of small-for-gestational-age (SGA) fetuses, based on standardized clinical and Doppler criteria, in late-pregnancy cases.
Methods: A retrospective cohort was constructed of consecutive singleton pregnancies referred for late-onset (> 32 weeks) SGA (defined as estimated fetal weight (EFW) < 10 centile) that were classified as fetal growth restriction (FGR) or low-risk SGA, based on the severity of smallness (EFW < 3 centile) and the presence of Doppler abnormalities (uterine artery pulsatility index (UtA-PI) ≥ 95 centile or cerebroplacental ratio (CPR) < 5 centile). Low-risk SGA pregnancies were followed at 2-week intervals and delivered electively at 40 weeks.
Stem Cells Transl Med
February 2021
IUF-Leibniz Research Institute for Environmental Medicine, Düsseldorf, Germany.
The aim of this study was to develop a rabbit neurosphere culture to characterize differences in basic processes of neurogenesis induced by intrauterine growth restriction (IUGR). A novel in vitro neurosphere culture has been established using fresh or frozen neural progenitor cells from newborn (PND0) rabbit brains. After surgical IUGR induction in pregnant rabbits and cesarean section 5 days later, neural progenitor cells from both control and IUGR groups were isolated and directly cultured or frozen at -80°C.
View Article and Find Full Text PDFSci Rep
June 2020
BCNatal - Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Deu, University of Barcelona), Barcelona, Spain.
The goal of this study was to evaluate the maturity of current Deep Learning classification techniques for their application in a real maternal-fetal clinical environment. A large dataset of routinely acquired maternal-fetal screening ultrasound images (which will be made publicly available) was collected from two different hospitals by several operators and ultrasound machines. All images were manually labeled by an expert maternal fetal clinician.
View Article and Find Full Text PDFInt J Gynaecol Obstet
July 2020
Department of Obstetrics and Gynecology, Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden.
Background: There is a substantial variation in rates of preterm delivery between different parts of the world. The understanding of these variations, as well as the biological mechanisms behind spontaneous preterm delivery, is limited. Although the benefit of antenatal interventions has been shown to be limited, using well-known risk factors for spontaneous preterm delivery to select the correct pregnant women for targeted interventions is important from both a medical and caregiving perspective.
View Article and Find Full Text PDFActa Obstet Gynecol Scand
November 2020
Department of Obstetrics and Gynecology, Skåne University Hospital, Malmö, Sweden.
Signal Transduct Target Ther
February 2020
Department of Pharmacology, Toxicology and Therapeutic Chemistry, IBUB (Institut de Biomedicina de la Universitat de Barcelona), Research Institute - Pediatric Research Institute, Hospital Sant Joan de Déu, and CIBER de Diabetes y Enfermedades Metabólicas Asociadas (CIBERDEM), Faculty of Pharmacy and Food Sciences, University of Barcelona, Barcelona, Spain.
Sirtuin 3 (SIRT3) is a deacetylase that modulates proteins that control metabolism and protects against oxidative stress. Modulation of SIRT3 activity has been proposed as a promising therapeutic target for ameliorating metabolic diseases and associated cardiac disturbances. In this study, we investigated the role of SIRT3 in inflammation and fibrosis in the heart using male mice with constitutive and systemic deletion of SIRT3 and human cardiac AC16 cells.
View Article and Find Full Text PDFFetal Diagn Ther
June 2021
Fetal Medicine Unit-SAMID, Department of Obstetrics and Gynecology, University Hospital 12 de Octubre, 12 de Octubre Research Institute (imas12), Complutense University of Madrid, Madrid, Spain.
Objectives: Firstly, to describe the outcome of a series of fetuses with Ebstein's anomaly (EA) and, secondly, to study the utility of different second-trimester echocardiographic parameters to predict fetal and neonatal mortality.
Methods: 39 fetuses with EA diagnosed between 18 and 28 weeks of gestation were included. Fetal echocardiography included the cardiothoracic ratio (CTR); right atrial (RA) area index; displacement of the tricuspid valve (TV); tricuspid regurgitation; pulmonary artery; and ductus arteriosus flow characteristics.
Ultrasound Obstet Gynecol
December 2020
Fetal i+D Fetal Medicine Research Center, BCNatal - Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Deu), IDIBAPS, University of Barcelona, and Center for Biomedical Research on Rare Diseases (CIBER-ER), Barcelona, Spain.
Objectives: To explore the risk of small-for-gestational age (SGA) and fetal growth restriction (FGR) and to test the performance of first-trimester screening for SGA and FGR in women with a false-positive high or intermediate risk for aneuploidy.
Methods: This was a prospective cohort study of women with a singleton pregnancy attending for a routine first-trimester scan. The risks of aneuploidy and preterm SGA (defined as birth weight < 10 percentile with delivery before 37 weeks) were determined according to Fetal Medicine Foundation algorithms.
J Diabetes Res
February 2020
Maternal-Fetal Medicine and Therapy Research Center, Evidence-Based Health Care Department, in Behalf of the Iberoamerican Research Network in Translational, Molecular and Maternal-Fetal Medicine, Mexico City, Mexico.
Background: Free fatty acids, also known as nonesterified fatty acids, are proinflammatory molecules that induce insulin resistance in nonpregnant individuals. Nevertheless, the concentration of these molecules has not been systematically addressed in pregnant women.
Objective: This meta-analysis is aimed at evaluating the difference in free fatty acid plasma levels between women with gestational diabetes and healthy pregnant controls and their intrinsic and extrinsic determinants.
Acta Obstet Gynecol Scand
February 2020
Fetal i+D Fetal Medicine Research Center, BCNatal-Barcelona Center for Maternal-Fetal and Neonatal Medicine, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Hospital Clínic and Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
Introduction: The objective of this study was to establish whether heparin improves the neonatal outcome of fetuses with suspected placental insufficiency.
Material And Methods: Before data extraction, the project was registered in the PROSPERO International Prospective Register of Systematic Reviews (registration number: CRD42019117627). A systematic search was performed to identify relevant studies, using PubMed, SCOPUS, ISI Web of Knowledge, and PROSPERO database for meta-analysis.
Int J Gynaecol Obstet
November 2019
Fetal i+D Fetal Medicine Research Center, BCNatal - Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Deu), Institut Clínic de Ginecologia, Obstetricia i Neonatologia, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Universitat de Barcelona, Barcelona, Catalonia, Spain.
Background: Preterm birth causes an increased risk for perinatal morbidity and mortality.
Objective: To determine whether mid-trimester 17-alpha-hydroxyprogesterone caproate (17-OHPC) reduces the risk of recurrent preterm birth and adverse perinatal outcomes.
Search Strategy: Systematic search to identify relevant studies published in different languages, registered after 2000, using appropriate MeSH terms.
Ultrasound Obstet Gynecol
May 2020
Fetal i+D Fetal Medicine Research, BCNatal, Barcelona Center for Maternal-Fetal and Neonatal Medicine, Hospital Clínic and Hospital Sant Joan de Deu, Institut Clinic de Ginecologia, Obstetricia i Neonatologia, IDIBAPS, University of Barcelona, Barcelona, Catalonia, Spain.
Objective: To assess the frequency of atypical chromosomal and submicroscopic anomalies, as well as fetal structural abnormalities, observed on first-trimester ultrasound scan in fetuses with nuchal translucency (NT) thickness > 99 centile, in order to evaluate the suitability of using standard cell-free DNA (cfDNA) testing as the sole screening test in these pregnancies.
Methods: This was a retrospective cohort study of 226 fetuses with NT > 99 centile at 11-14 weeks' gestation, between January 2013 and December 2017, in a clinical setting in which greater than 95% of pregnant women receive first-trimester combined screening. All patients underwent genetic testing by means of quantitative fluorescence polymerase chain reaction and chromosomal microarray analysis, mainly in chorionic villus samples.
Clin Epigenetics
May 2019
Department of Evolutionary Biology, Ecology and Environmental Sciences, Faculty of Biology, University of Barcelona (UB), Avda. Diagonal 643 2n A, 08028, Barcelona, Spain.
Background: Obstetric complications have long been retrospectively associated with a wide range of short- and long-term health consequences, including neurodevelopmental alterations such as those observed in schizophrenia and other psychiatric disorders. However, prospective studies assessing fetal well-being during pregnancy tend to focus on perinatal complications as the final outcome of interest, while there is a scarcity of postnatal follow-up studies. In this study, the cerebroplacental ratio (CPR), a hemodynamic parameter reflecting fetal adaptation to hypoxic conditions, was analyzed in a sample of monozygotic monochorionic twins (60 subjects), part of them with prenatal complications, with regard to (i) epigenetic age acceleration, and (ii) DNA methylation at genes included in the polygenic risk score (PRS) for schizophrenia, and highly expressed in placental tissue.
View Article and Find Full Text PDFMed Image Anal
May 2019
BCN MedTech, Department of Information and Communication Technologies, Universitat Pompeu Fabra, Barcelona, Spain; ICREA, Barcelona, Spain.
Recent advances in fetal magnetic resonance imaging (MRI) open the door to improved detection and characterization of fetal and placental abnormalities. Since interpreting MRI data can be complex and ambiguous, there is a need for robust computational methods able to quantify placental anatomy (including its vasculature) and function. In this work, we propose a novel fully-automated method to segment the placenta and its peripheral blood vessels from fetal MRI.
View Article and Find Full Text PDFUltrasound Obstet Gynecol
December 2019
Prenatal Diagnosis Unit, Hospital Clínic de Barcelona, Universitat de Barcelona, Barcelona, Catalonia, Spain.
Objective: To evaluate the performance of fetal middle cerebral artery peak systolic velocity (MCA-PSV) ≥ 1.5 multiples of the median (MoM) for the prediction of moderate-severe anemia, in untransfused and transfused fetuses.
Methods: A systematic search was performed to identify relevant observational studies reported in the period 2008-2018 that evaluated the performance of MCA-PSV, using a threshold of 1.
Sci Rep
February 2019
BCNatal - Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Deu, University of Barcelona), Barcelona, Spain.
The objective of this study was to evaluate the performance of a new version of quantusFLM®, a software tool for prediction of neonatal respiratory morbidity (NRM) by ultrasound, which incorporates a fully automated fetal lung delineation based on Deep Learning techniques. A set of 790 fetal lung ultrasound images obtained at 24 + 0-38 + 6 weeks' gestation was evaluated. Perinatal outcomes and the occurrence of NRM were recorded.
View Article and Find Full Text PDFJ Diabetes Res
October 2019
Fetal i+D Fetal Medicine Research Center, BCNatal-Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Déu), IDIBAPS, University of Barcelona, Spain.
Background: Undercarboxylated osteocalcin (ucOC) increases insulin release and insulin resistance in mice. In humans, evidence is scarce but a correlation of ucOC and total osteocalcin (tOC) with glycemic status markers has been demonstrated. The relationship of ucOC and tOC with gestational diabetes mellitus (GDM) has been even less characterized.
View Article and Find Full Text PDFUltrasound Obstet Gynecol
May 2019
BCNatal, Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic and Hospital Sant Joan de Deu), Institut Clínic de Ginecologia, Obstetricia i Neonatologia Fetal i+D Fetal Medicine Research Center, Universitat de Barcelona, Barcelona, Catalonia, Spain.
Objective: To assess the added value of chromosomal microarray analysis (CMA) over conventional karyotyping to assess the genetic causes in stillbirth.
Methods: To identify relevant studies, published in English or Spanish and without publication time restrictions, we performed a systematic search of PubMed, SCOPUS and ISI Web of Science databases, The Cochrane Library and the PROSPERO register of systematic reviews, for case series of fetal loss ≥ 20 weeks of gestation, with normal or suspected normal karyotype, undergoing CMA and with at least five subjects analyzed. To investigate quality, two reviewers evaluated independently the risk of bias using the Quality Assessment of Diagnostic Accuracy Studies (QUADAS-2) tool.
Med Image Anal
January 2019
BCN MedTech, Department of Information and Communication Technologies, Universitat Pompeu Fabra, Barcelona, Spain; ICREA, Barcelona, Spain.
Fetal imaging is a burgeoning topic. New advancements in both magnetic resonance imaging and (3D) ultrasound currently allow doctors to diagnose fetal structural abnormalities such as those involved in twin-to-twin transfusion syndrome, gestational diabetes mellitus, pulmonary sequestration and hypoplasia, congenital heart disease, diaphragmatic hernia, ventriculomegaly, etc. Considering the continued breakthroughs in utero image analysis and (3D) reconstruction models, it is now possible to gain more insight into the ongoing development of the fetus.
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