Results 41 to 50 of about 392,708 (198)

Cribado de cardiopatías congénitas críticas en el periodo neonatal. Recomendación de la Sociedad Española de Neonatología

Anales de Pediatría, 2018
Resumen: Debido a su gravedad y a las consecuencias de un diagnóstico tardío, los defectos cardíacos congénitos críticos (DCCC) representan un reto, por lo que es necesario su diagnóstico muy precoz, idealmente antes del comienzo de los síntomas clínicos,
Manuel Sánchez Luna, Alejandro Pérez Muñuzuri, Ester Sanz López, José Luis Leante Castellanos, Isabel Benavente Fernández, César W. Ruiz Campillo, M. Dolores Sánchez Redondo, Máximo Vento Torres, Segundo Rite Gracia   +8 more
doaj   +1 more source

Infección congénita por citomegalovirus. nuevos desafíos en la práctica clínica

Revista Médica Clínica Las Condes, 2023
Resumen: La infección fetal por citomegalovirus (CMV) es la causa más común de infección fetal congénita, puede provocar muerte fetal, neonatal, así como graves secuelas en la infancia.
Susana Aguilera, Sergio de la Fuente
doaj   +1 more source

Prenatal diagnosis of cardiac rhabdomyoma: implications for predicting tuberous sclerosis complex and guiding perinatal management

Ultrasound in Obstetrics &Gynecology, Volume 68, Issue 1, Page 88-98, July 2026.
ABSTRACT Objective To identify prenatal predictors of tuberous sclerosis complex (TSC) in fetuses with one or more cardiac rhabdomyomas (CR), evaluate an integrated multimodal diagnostic workflow using fetal magnetic resonance imaging (MRI) and trio whole‐exome sequencing (trio‐WES) and characterize perinatal outcomes.
X. Cai, J. Liu, W. Zheng, Y. Jiao, Y. Lou, M. Deng, W. Zhao, K. Yan, L. Sun   +8 more
wiley   +1 more source

Evaluation of the first 5 years of a glutaric aciduria type I neonatal screening programme in Asturias

Anales de Pediatría (English Edition)
Introduction: . Neonatal screening of glutaric aciduria type 1 (GA-1) has brought radical changes in the course and outcomes of this disease. This study analyses the outcomes of the first 5 years (2015–2019) of the AGA1 neonatal screening programme in ...
Ana Isabel Elola Pastor, Belén Prieto García, Juan José Díaz Martín   +2 more
doaj   +1 more source

Risk of minor congenital heart defect in infants conceived via assisted reproductive technology: cohort study from the Copenhagen Baby Heart Study

Ultrasound in Obstetrics &Gynecology, Volume 68, Issue 1, Page 59-67, July 2026.
ABSTRACT Objective Infertility affects up to 20% of couples in high‐income countries, which has led to an increased use of assisted reproductive technology (ART). While previous studies have linked ART to a higher risk of major congenital heart defects (CHD), less is known about the associated risk of minor CHD.
F. Kyhl‐Svart, J. S. Jensen, R. O. B. Vøgg, D. Vassard, J. Forman, H. A. Boyd, V. Hjortdal, A.‐S. Sillesen, A. A. Raja, S. Dannesbo, A. F. Mariager, C. Torp‐Pedersen, M. P. Andersen, K. Iversen, H. Bundgaard, P. L. Madsen, A. Pinborg   +16 more
wiley   +1 more source

Changing trends in prenatal screening and treatment of cytomegalovirus infection in France: 7‐year national cohort study (2017–2023)

Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 6, Page 756-763, June 2026.
ABSTRACT Objectives Cytomegalovirus (CMV) is the leading cause of congenital infectious neurosensory impairment. We aimed to present national epidemiological data on maternal CMV infection during pregnancy in France, focusing in particular on primary infection in the periconceptional period or first trimester, and to assess the impact of changes in ...
P. Coste‐Mazeau, E. Ribot, S. Hantz, Y. Ville, M. Leruez‐Ville, S. Alain, the French Congenital Infection database group, Maeva Anciaux, Laurent Andreoletti, Julie Arata‐Bardet, Carine Arlicot, Dominique Astruc, Jocelyne Attia, Marie‐Stéphanie Aubelle, Christelle Auvray, Bassel Bachour, Sonanda Bailleux, Nathalie Banaszkiewicz, Adeline Baron, Audrey Baudesson de Chanville, Manon Baudry, Agnès Beby‐Defaux, Alexandra Benachi, Melinda Benard, Yasmina Benmalek, Guillaume Benoist, Géraldine Benoit, Clotilde Bertrand, Florence Biquard, Delphine Body‐Bechou, Emilie Bouissou, Brahim Boumahni, Thomas Bourlet, Elise Bouthry, David Boutolleau, Marie Pierre Brechard, Caroline Bressollette, Olivier Brissaud, Marine Butin, Anne‐Sophie Cabaret‐Dufour, Romain Cahierc, Sandrine Caillot‐Vaudoyer, Odile Camard, Margaux Canaguier, Isabelle Cannavo, Clément Castella, Julie Cattin, Caroline Chessa, Marie‐Thérèse Cheve, Marianne Coicaud, Laurence Contin, Marianne Coste‐Burel, Sophie Couderc, Anne‐Marie Darras, Amélie Delabaere, Delphine Delayer, Mathilde Demeyere, Joelle Dendale, Anny Dewilde, Murielle Dobrzynski, Chloé Dole, Chloé Epiard, Véronique Equy, Laurence Fagour, Frederic Faibis, Benoit Fetiveau, Axel Fichez, Christelle Follet‐Bouhamed, Justine Formet, Vincent Foulongne, Loriane Franchinard, Emilie Frobert, Denis Gallot, Patricia Garcia, Isabelle Garrigue, Catherine Gaudy‐Graffin, Stéphanie Gouarin, Ann‐Claire Gourinat, Veronique Grezard, Michele Gueneret‐Bru, Jérôme Guinard, Frédérique Hay, Sophie Henault, Céline Homatter, Nadira Houhou, Cyril Huissoud, Véronique Jacomo, Gaelle Jambon, Eugénie Jolivet, Saodat Karimova, Blandine Keller, Sophie Ketterer‐Martinon, Fedia Khlif Masmoudi, François Kieffer, Bérengère Kireche, Anne‐Sophie L'Honneur, Jean‐Marc Labaune, Imad Labbassi, Marie‐Edith Lafon, Gisèle Lagathu, Stéphane Lastere, Hélène Laurichesse, Mouna Lazrek, Gwenaelle Le Bouar, Camille Le Pors, Claudine Le Vaillant, René Lebeaupin, Elodie Lecorps, Quentin Lepiller, Justine Lerat, Marine Letrecher, Nicolas Leveque, Emmanuelle Levine, Sophie Levrier, David Leyssene, Julien Lupo, Nadia Mahjoub, Anne‐Marie Maillotte, Sandrine Marioli, Julien Marlet, Stéphanie Marque Juillet, Manon Marquet, Charlotte Masias, Marco Millones Gonzales, Philippe Minodier, Nicolas Mottet, Eve Mousty, Sébastien Moutton, Anca Moza, Fatiha Najioullah, Anne‐Laure Nerre, Marie‐France Olieric, Isabelle Parent, Anne Paris, Christophe Pasquier, Estelle Perdriolle‐Galet, Franck Perrotin, Delphine Pesenti, Jean‐Charles Picaud, Olivier Picone, Sylvie Pillet, Léa Pilorge, Didier Pinquier, Veronique Poirier‐Cartron, Lucie Poisson, Perrine Prier, Catherine Queiros‐Da‐Silva, Thibaud Quibel, Harisoa Ramaholimihaso, Fabienne Raskin, Christel Regagnon, Mathilde Roffi, Thierry Rousseau, Anne‐Hélène Saliou, Adèle Schiby, Nathalie Schnepf, Christine Segard, Anaïs Soares, Morgane Solis, Robin Stephan, Natacha Teissier, Cyrielle Thonnon, Cynthia Trastour, Joelle Troussier, Anne Sylvie Valat, Christelle Vauloup‐Fellous, Véronique Venard, Valérie Vequeau‐Goua, Laura Verdurme, Mathilde Vermont, Marie Gabrielle Vigue, Marie Vincienne, Vladimir Vladimirov, Jean‐Baptiste Vuillemenot, Anne Sophie Weingertner, Eric Welter, Christine Zandotti   +176 more
wiley   +1 more source

Thyroid function in < 32 weeks gestation preterm infants

Anales de Pediatría (English Edition), 2022
Introduction: Preterm newborns (PN) have a higher risk of thyroid dysfunction than term newborns (TN). This condition may go unnoticed in neonatal screening due to a late elevation of thyrotropin (TSH) in these patients.
Alicia Montaner-Ramón, Susana Hernández-Pérez, Ariadna Campos-Martorell, Marta Ballesta-Anguiano, María Clemente-León, Félix Castillo-Salinas   +5 more
doaj   +1 more source

Cribado auditivo neonatal universal. Problemas clínicos y preguntas frecuentes. Recomendaciones CODEPEH 2022

Revista Española de Discapacidad, 2023
La calidad y efectividad de los programas de cribado neonatal de la hipoacusia ha mejorado considerablemente desde su implantación hace casi dos décadas, incorporando avances tecnológicos y progresando en el conocimiento sobre el proceso de cribado, el diagnóstico y la intervención precoz.
Núñez Batalla. Faustino, Jáudenes Casaubón, Carmen, Sequí Canet, José Miguel, Vivanco Allende, Ana, Zubicaray Ugarteche, José   +4 more
openaire   +1 more source

Longitudinal maternal hemodynamics in high‐risk pregnancies with different subtypes of pre‐eclampsia

Ultrasound in Obstetrics &Gynecology, Volume 67, Issue 5, Page 623-634, May 2026.
ABSTRACT Objective To evaluate maternal cardiac adaptation during pregnancy by comparing longitudinal hemodynamic profiles between women identified as high risk for preterm pre‐eclampsia (PE) who subsequently developed preterm PE, term PE or remained unaffected, as well as low‐risk women.
J. Lin, X. Wang, Y. Chen, L. Nguyen‐Hoang, A. S. T. Tai, I. S. Wong, X. Y. Chen, M. H. Ng, H. H. Y. Leung, A. P. W. Lee, L. C. Poon   +10 more
wiley   +1 more source

Fibrosis Quística: Generalidades

Ciencia & Salud, 2020
La fibrosis quística, es una enfermedad genética autosómica recesiva, que es causada por mutaciones en un gen ubicado en el cromosoma 7 y que codifica una proteína denominada Regulador de Conductancia Transmembrana de la Fibrosis Quística, la misma está ...
Eliécer Antonio Cordero Araya, Yelín Choque Núñez, María José Quirós Chacón   +2 more
doaj   +1 more source