Results 41 to 50 of about 1,997,745 (357)

The expressivist objection to prenatal testing : the experiences of families living with genetic disease [PDF]

open access: yes, 2014
The expressivist objection to prenatal testing is acknowledged as a significant critique of prenatal testing practices most commonly advanced by disability rights supporters.
Felicity Kate Boardman   +2 more
core   +1 more source

Inside ‘Inside view’ : reflections on stimulating debate and engagement through a multimedia live theatre production on the dilemmas and issues of pre-natal screening policy and practice [PDF]

open access: yes, 2010
Background The role of applied theatre in engaging both lay and professional publics with debate on health policy and practice is an emergent field.
Sandall, Jane; id_orcid   +13 more
core   +1 more source

A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication

open access: yesMolecular Cytogenetics, 2019
Background Copy number variations (CNVs) can contribute to human phenotype, phenotypic diversity and disease susceptibility, while others may benign.
Jianlong Zhuang   +5 more
doaj   +1 more source

Role of biological rhythm dysfunction in the development and management of bipolar disorders: a review

open access: yesGeneral Psychiatry, 2020
Disturbance of biological rhythms contributes to the onset of bipolar disorders and is an important clinical feature of the condition. To further explore the role of biological rhythms in bipolar disorders, 95 English articles published between 1968 and ...
Yiming Chen, Wu Hong
doaj   +1 more source

Increasing prenatal diagnosis of chimeras with the use of noninvasive prenatal screening: Report of two cases

open access: yes, 2021
Bulleted Statements: What's already known about this topic? The incidence of discordant fetal sex was estimated to be 1 in 1500-2000. Comprehensive evaluation is required to investigate the underlying cause. What does this study add?
Ma, TWL   +7 more
core   +1 more source

Knowledge is power? : the role of experiential knowledge in genetically 'risky' reproductive decisions [PDF]

open access: yes, 2014
Knowledge of the condition being tested for is increasingly acknowledged as an important factor in prenatal testing and screening decisions. An analysis of the way in which family members living with an inheritable condition use and value this knowledge ...
Boardman, Felicity K.
core   +1 more source

Comparison of Efficiencies of Non-invasive Prenatal Testing, Karyotyping, and Chromosomal Micro-Array for Diagnosing Fetal Chromosomal Anomalies in the Second and Third Trimesters

open access: yesFrontiers in Genetics, 2019
In this study, we aimed to compare the efficiency of non-invasive prenatal testing (NIPT), karyotyping, and chromosomal micro-array (CMA) for the diagnosis of fetal chromosomal anomalies in the second and third trimesters.
Yiyang Zhu   +11 more
doaj   +1 more source

Screening for health risks: A social science perspective [PDF]

open access: yes, 2010
Health screening promises to reduce risks to individuals via probabilistic sifting of populations for medical conditions. The categorisation and selection of 'conditions' such as cardiovascular events, dementia and depression for screening itself ...
Heyman, Bob
core   +1 more source

Experts' views on the implementation of the prenatal screening decision aid in Iran: A qualitative study

open access: yesNursing Practice Today, 2021
Background & Aim: Patient decision aids are detailed and personalized health education materials that assist patients in decision making. According to expert viewpoints, this study aimed to determine important factors in implementing the prenatal ...
Razieh Zahedi   +3 more
doaj   +1 more source

Case Report: Novel Biallelic Null Variants of SMPD4 Confirm Its Involvement in Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, and Structural Brain Anomalies

open access: yesFrontiers in Genetics, 2022
The SMPD4 gene encodes sphingomyelin phosphodiesterase 4, which preferentially hydrolyzes sphingomyelin over other phospholipids. The biallelic loss-of-function variants of SMPD4 have been identified in a group of children with neurodevelopmental ...
Weigang Ji   +5 more
doaj   +1 more source

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