Results 31 to 40 of about 2,274 (145)

Anomalías congénitas en el primer trimestre de embarazo [PDF]

open access: yes, 2021
Las malformaciones o anomalías congénitas son defectos estructurales o funcionales que ocurren durante la vida intrauterina; se desarrollan principalmente durante los tres primeros meses del embarazo y pueden llevar a secuelas importantes, incluso la ...
Pérez Prieto, Marina
core  

Registros nacionais de anomalias congênitas no mundo: aspectos históricos e operacionais

open access: yesEpidemiologia e Serviços de Saúde, 2021
Resumo Objetivo: Identificar registros de anomalias congênitas com cobertura nacional existentes no mundo, destacando suas principais características históricas e operacionais.
Augusto César Cardoso-dos-Santos   +7 more
doaj   +2 more sources

Undetected cases after implementation of first‐trimester anomaly scan in low‐risk population: insights from the IMITAS study

open access: yesUltrasound in Obstetrics &Gynecology, Volume 67, Issue 1, Page 27-33, January 2026.
ABSTRACT Objective To assess the effectiveness of the first‐trimester anomaly scan (FTAS) performed as part of a centrally steered national screening program in The Netherlands by investigating false‐negative cases with a fetal structural anomaly that was not detected at the FTAS.
K. Bronsgeest   +18 more
wiley   +1 more source

Políticas públicas saludables y anomalías congénitas morfológicas en recién nacidos del hospital Antonio Lorena de Cusco 2018 [PDF]

open access: yes, 2021
El presente trabajo intitulado Políticas públicas saludables y anomalías congénitas morfológicas en recién nacidos del hospital Antonio Lorena de Cusco 2018, trata sobre la base de la importancia de llevar un debido control prenatal en madres ...
Paucarmayta Tacuri, Abel
core  

CRISPR/Cas-Based Ex Vivo Gene Therapy and Lysosomal Storage Disorders: A Perspective Beyond Cas9

open access: yesCells
Lysosomal storage disorders (LSDs) are inherited metabolic conditions characterized by lysosomal enzyme deficiencies leading to substrate accumulation.
Andrés Felipe Leal   +2 more
doaj   +1 more source

Adverse pregnancy outcome in fetuses with early increased nuchal translucency: prospective cohort study

open access: yesUltrasound in Obstetrics &Gynecology, Volume 64, Issue 2, Page 164-172, August 2024.
ABSTRACT Objectives An increased nuchal translucency (NT) thickness of ≥ 3.5 mm is a well‐established marker for congenital anomalies and adverse pregnancy outcome between 11 and 14 weeks' gestation, but little is known about its performance as a screening tool before 11 weeks.
B. B. Bet   +5 more
wiley   +1 more source

Prevalencia de anomalías congénitas en neonatos nacidos en el Hospital Escuela San Juan de Dios Estelí en el período enero 2017 a diciembre 2020 [PDF]

open access: yes, 2023
La Organización Mundial de la Salud informa que Nicaragua registró un total de 3,160 defunciones por anomalías congénitas, en el período de 1997-2012, para un promedio anual de 198 defunciones.
Valdivia Pineda, Jacksira Marlieth   +1 more
core  

Role of artificial‐intelligence‐assisted automated cardiac biometrics in prenatal screening for coarctation of aorta

open access: yesUltrasound in Obstetrics &Gynecology, Volume 64, Issue 1, Page 36-43, July 2024.
ABSTRACT Objective Although remarkable strides have been made in fetal medicine and the prenatal diagnosis of congenital heart disease, around 60% of newborns with isolated coarctation of the aorta (CoA) are not identified prior to birth. The prenatal detection of CoA has been shown to have a notable impact on survival rates of affected infants.
C. A. Taksøe‐Vester   +8 more
wiley   +1 more source

Frecuencia de anomalías congénitas en el Instituto Materno Infantil [PDF]

open access: yes, 2001
Determinar y analizar las frecuencias de anomalías congénitas en el Instituto Materno Infantil de ...
A. Giraldo   +7 more
core  

Incremental yield of whole‐genome sequencing over chromosomal microarray analysis and exome sequencing for congenital anomalies in prenatal period and infancy: systematic review and meta‐analysis

open access: yesUltrasound in Obstetrics &Gynecology, Volume 63, Issue 1, Page 15-23, January 2024.
ABSTRACT Objectives First, to determine the incremental yield of whole‐genome sequencing (WGS) over quantitative fluorescence polymerase chain reaction (QF‐PCR)/chromosomal microarray analysis (CMA) with and without exome sequencing (ES) in fetuses, neonates and infants with a congenital anomaly that was or could have been detected on prenatal ...
N. Shreeve   +6 more
wiley   +1 more source

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