Results 141 to 150 of about 1,997,745 (357)

Prenatal screening for congenital malformations: diagnosis and management in low and medium income countries

, 2016
Prenatal screening for foetal malformation is an important component of prenatal care. Unfortunately, it has not been adequately addressed in many low and medium income countries (LMIC).
Charles, James, Mwampagatwa, Ipyana H, James Charles, Ipyana H. Mwampagatwa   +3 more
core   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Screening of 50,539 newborns for congenital hypothyroidism: optimization of TSH cut-off values and seasonal impact in clinical practice

Frontiers in Endocrinology
ObjectiveTo analyze the incidence of congenital hypothyroidism (CH) in Putian, optimize the thyroid-stimulating hormone (TSH) screening cut-off value, and improve diagnostic efficiency and accuracy.MethodsA retrospective analysis was conducted on TSH ...
Lixian Zhang, Kun Lin, Xinrong Han
doaj   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

To What Extent Do Australian Government Metrics Align With Indigenous and Non‐Indigenous Conceptualisations of Wellbeing? A Scoping Review of Wellbeing Frameworks

Australian Journal of Social Issues, EarlyView.
ABSTRACT Indigenous wellbeing theories offer potential to better measure social and cultural determinants. This scoping review aimed to identify the types of metrics used by the Australian government to assess wellbeing and evaluate the alignment of current frameworks against Indigenous and non‐Indigenous conceptualisations of wellbeing.
Sophie Wright‐Pedersen, Edward J. O'Connor, Megan Rebuli, Tiana Thorne, Naomi Kakoschke, Ray Mahoney   +5 more
wiley   +1 more source

Health disparities in chronic liver disease

Hepatology, EarlyView., 2022
Abstract The syndemic of hazardous alcohol consumption, opioid use, and obesity has led to important changes in liver disease epidemiology that have exacerbated health disparities. Health disparities occur when plausibly avoidable health differences are experienced by socially disadvantaged populations.
Ani Kardashian, Marina Serper, Norah Terrault, Lauren D. Nephew   +3 more
wiley   +1 more source

Prenatal diagnosis and clinical evaluation of fetuses with structural X chromosome abnormalities: a ten-year single-center retrospective study

BMC Medical Genomics
Background Structural X chromosome abnormalities are rare conditions and pose great challenges in prenatal genetic counseling. The present study aimed to identify and investigate the pregnancy outcome of fetuses with X chromosome structural abnormalities
Lixian Zhang, Jianlong Zhuang, Wenli Chen, Xinying Chen, Nan Huang   +4 more
doaj   +1 more source

Prenatal Diagnosis of Retinoblastomas: A Scoping Review

International Journal of General Medicine, 2023
Aurora Rodriguez,1 Caitlin Kelley,1 Anjali Patel,1 Aparna Ramasubramanian2 1School of Medicine, Creighton University, Phoenix, AZ, USA; 2Ophthalmology Department, Phoenix Children’s Hospital, Phoenix, AZ, USACorrespondence: Aparna Ramasubramanian ...
Rodriguez A, Kelley C, Patel A, Ramasubramanian A   +3 more
doaj  

Attitudes to prenatal screening among Norwegian citizens: liberality, ambivalence and sensitivity

BMC Medical Ethics, 2018
Background Norway’s liberal abortion law allows for abortion on social indications, yet access to screening for fetal abnormalities is restricted. Norwegian regulation of, and public discourse about prenatal screening and diagnosis has been exceptional ...
Morten Magelssen, Berge Solberg, Magne Supphellen, Guttorm Haugen   +3 more
doaj   +1 more source

The Dynamics of Neurofilament Light Chain in Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Newborn screening (NBS) for spinal muscular atrophy (SMA) facilitates early diagnosis and treatment for affected individuals. However, fluid biomarkers that provide early insights into disease activity and outcomes in a neonatal cohort and those unable to access (due to reimbursement criteria) or deferring immediate treatment are lacking ...
Arlene D'Silva, Karen Herbert, Lakshmi Balaji, Jia Mei He, Tejaswi Kandula, Hugo A. Sampaio, Hooi‐Ling Teoh, Esther Tantsis, Jihee Sohn, Nancy Briggs, Nickson Ning, Matthew C. Kiernan, Didu S. Kariyawasam, Michelle A. Farrar   +13 more
wiley   +1 more source