Results 111 to 120 of about 1,997,745 (357)

Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood

Journal of International Medical Research, 2017
Objective To explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal sex chromosome aneuploidies (SCAs).
Bin Zhang, Beiyi Lu, Bin Yu, Fang-xiu Zheng, Qin Zhou, Ying-ping Chen, Xiao-qing Zhang   +6 more
semanticscholar   +1 more source

Economic evaluation of cystic fibrosis screening: A Review of the literature, CHERE Working Paper 2006/6 [PDF]

Objectives: To critically examine the economic evidence on Cystic Fibrosis (CF) screening and to understand issues relating to the transferability of findings to the Australian context for policy decisions.
Muralikrishnan Radhakrishnan, Kees van Gool, Martin Delatycki, Jane Hall, John Massie   +4 more
core  

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Toxoplasmosis in Primiparus Pregnant Women and Their Neonates [PDF]

Iranian Journal of Public Health, 2002
The prevalence of primary infection with T. gondii in pregnant women and risk of congenital infection in their neonates in various parts of Tehran are unknown. The prevalence rate of antibodies to T.
S Noorbakhsh, S Mamishi, S Rimaz, SHR Monavari   +3 more
doaj   +2 more sources

Accuracy of prenatal screening for congenital heart disease in population: A retrospective study in Southern France.

PLoS ONE, 2020
Congenital heart diseases (CHDs) are the most common congenital malformations. The objective of our study was to evaluate the prenatal screening accuracy of congenital heart disease (CHD) in Southern France and to evaluate the impact of a prenatal ...
Cornélie Suard, Audrey Flori, Florent Paoli, Anderson Loundou, Virginie Fouilloux, Sabine Sigaudy, Fabrice Michel, Julie Antomarchi, Pamela Moceri, Véronique Paquis-Flucklinger, Claude D'Ercole, Florence Bretelle   +11 more
doaj   +1 more source

Special Report: Prenatal Screening Policies in Europe 2010

, 2010
Since the setting up of EUROCAT in 1980 there has been a continuous increase in the proportion of congenital malformations that are diagnosed prenatally. EUROCAT studies have shown significant regional differences in prenatal detection rates in Europe. A
Boyd, Patricia, Bianchi, Fabrizio, Pierini, Anna, Strigini, Francesca, Cariati, Ettore, Garne, Ester   +5 more
core  

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Genetics in Medicine, 2021
K. Van Den Bogaert, L. Lannoo, N. Brison, V. Gatinois, M. Baetens, B. Blaumeiser, F. Boemer, Laura Bourlard, V. Bours, A. de Leener, M. de Rademaeker, J. Désir, A. Dheedene, Armelle Duquenne, Nathalie Fieremans, A. Fieuw, Jean-Stéphane Gatot, B. Grisart, K. Janssens, S. Janssens, D. Lederer, Axel Marichal, B. Menten, C. Meunier, L. Palmeira, B. Pichon, E. Sammels, G. Smits, Y. Sznajer, E. Vantroys, K. Devriendt, J. Vermeesch   +31 more
semanticscholar   +1 more source

Assessing the psychological impact and acceptability of a first-trimester screening test for pre-eclampsia

, 2015
BACKGROUND: A first-trimester prenatal screening test for pre-eclampsia was launched in 2010. It differs from previously assessed prenatal screening tests.
Harris, JM
core