Results 91 to 100 of about 4,096,588 (418)

Experiences of informational needs and received information following a prenatal diagnosis of congenital heart defect

open access: yesPrenatal Diagnosis, 2016
To explore the need for information and what information was actually received following prenatal diagnosis of a congenital heart defect, in a country where termination of pregnancy beyond 22 weeks of gestation is not easily possible because of legal ...
Tommy Carlsson   +3 more
semanticscholar   +1 more source

The Safety Appliance Act and the FELA: A Plea for Clarification [PDF]

open access: yes, 1953
The aim of this thesis is to analyse and examine the debate on prenatal testing in Western countries, with a special focus on my own country, Sweden. In the near future it might be possible for a pregnant woman to profile the DNA of her foetus with a ...
Louisell, David W., Anderson, Kenneth M.
core   +1 more source

Non-immune fetal hydrops: etiology and outcome according to gestational age at diagnosis. [PDF]

open access: yes, 2020
OBJECTIVE: Fetal hydrops is associated with increased perinatal morbidity and mortality. The etiology and outcome of fetal hydrops may differ according to the gestational age at diagnosis.
A. Bhide   +12 more
core   +2 more sources

EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase‐3 and Aifm1 Splicing Pathways

open access: yesAdvanced Science, EarlyView.
EFTUD2, a spliceosomal GTPase linked to MFDM, regulates cortical development through apoptotic control. Conditional Eftud2 knockout in murine neural stem cells induces microcephaly and cortical disorganization, while pathogenic variants drive neuronal loss.
Liping Chen   +12 more
wiley   +1 more source

Non‐invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways

open access: yesPrenatal Diagnosis, 2016
Evaluate the costs of offering non‐invasive prenatal diagnosis (NIPD) for single gene disorders compared to traditional invasive testing to inform NIPD implementation into clinical practice.
T. Verhoef   +6 more
semanticscholar   +1 more source

Unraveling Multimodal Brain Signatures: Deciphering Transdiagnostic Dimensions of Psychopathology in Adolescents

open access: yesAdvanced Intelligent Systems, EarlyView.
This study, utilizing two large‐cohort datasets, employs interpretable neural networks. It demonstrates that incorporating brain morphology and functional and structural networks enhances predictive accuracy for general psychopathology and its dimensions.
Jing Xia, Nanguang Chen, Anqi Qiu
wiley   +1 more source

Comprehensive analysis of three female patients with different types of X/Y translocations and literature review

open access: yesMolecular Cytogenetics, 2023
Background X/Y translocations are highly heterogeneity in terms of clinical genetic effects, and most patients lack complete pedigree analysis for clinical and genetic characterization. Results This study comprehensively analyzed the clinical and genetic
Shanquan Liu   +8 more
doaj   +1 more source

Agent with Warm Start and Adaptive Dynamic Termination for Plane Localization in 3D Ultrasound [PDF]

open access: yesarXiv, 2021
Accurate standard plane (SP) localization is the fundamental step for prenatal ultrasound (US) diagnosis. Typically, dozens of US SPs are collected to determine the clinical diagnosis. 2D US has to perform scanning for each SP, which is time-consuming and operator-dependent. While 3D US containing multiple SPs in one shot has the inherent advantages of
arxiv  

Prenatal Diagnosis of Iniencephaly

open access: yesTaiwanese Journal of Obstetrics and Gynecology, 2007
Iniencephaly is characterized by a variable deficit of the occipital bones, resulting in an enlarged foramen magnum; partial or total absence of cervical and thoracic vertebrae with an irregular fusion of those present, accompanied by incomplete closure of the vertebral arches and/or bodies; significant shortening of the spinal column due to marked ...
openaire   +3 more sources

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent‐Centered Website: Parental and Professional Views

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The scarcity of clinical information surrounding rare chromosome disorders poses challenges for parents and clinicians. To bridge this gap for chromosome 6 disorders, the Chromosome 6 Project collects detailed genotype and phenotype data, aiming to provide aberration‐specific phenotype information to parents via an interactive website.
Eleana Rraku   +6 more
wiley   +1 more source

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