Results 41 to 50 of about 189,771 (305)

Evaluation of the prenatal diagnostic value of non-invasive prenatal testing for the detection of rare fetal autosomal trisomies: a single center study of 83,842 cases

Scientific Reports
To investigate the prenatal diagnostic value and pregnancy outcomes of rare autosomal trisomies (RATs) as indicated by non-invasive prenatal testing (NIPT), and to contribute to good childbearing.
Yiming Chen, Xiaoxia Wu, Huawei Li, Yixuan Yin, Yanzhen Zhang   +4 more
doaj   +1 more source

Clinical utility of exome sequencing in hearing loss: a retrospective cohort study

Frontiers in Genetics
BackgroundHearing loss (HL) is a prevalent sensorineural disorder with a highly heterogeneous etiology. Next-generation sequencing (NGS) has revolutionized the genetic testing landscape for diseases characterized by high genetic and allelic heterogeneity,
Chang Liu, Chang Liu, Yanlin Huang, Yanlin Huang, Anpeng Fu, Anpeng Fu, Yunan Wang, Yunan Wang, Jing Wu, Jing Wu, Yan Zhang, Yan Zhang, Li Du, Li Du, Hongke Ding, Hongke Ding, Lihua Yu, Lihua Yu, Fake Li, Fake Li, Yiming Qi, Yiming Qi, Yuan Liu, Yuan Liu, Xingwang Wang, Xingwang Wang, Yukun Zeng, Yukun Zeng, Ling Liu, Ling Liu, Ying Xiong, Ying Xiong, Yuanling Liu, Yuanling Liu, Xin Zhao, Xin Zhao, Liyuan Fang, Liyuan Fang, Jiayi Jian, Jiayi Jian, Aihua Yin, Aihua Yin, Yanqin You   +42 more
doaj   +1 more source

Evaluation laboratory prenatal screening performance based on biological variation of risk assessment in second trimester in China

Journal of Laboratory Medicine, 2022
This study intends to evaluate prenatal screening risk assessment performance based on biological variation to help clinical laboratories realize their own screening performance and set the appropriate performance specifications for prenatal screening ...
He Falin, Zhong Kun, Yuan Shuai, Du Yuxuan, Wang Wei, Wang Zhiguo   +5 more
doaj   +1 more source

Congenital Toxoplasmosis in Austria: Prenatal Screening for Prevention is Cost-Saving [PDF]

, 2017
Background: Primary infection of Toxoplasma gondii during pregnancy can be transmitted to the unborn child and may have serious consequences, including retinochoroiditis, hydrocephaly, cerebral calcifications, encephalitis, splenomegaly, hearing loss ...
Hayde, Michael, Kasper, David C., Prusa, Andrea-Romana, Sawers, Larry, Stillwaggon, Eileen, Walter, Evelyn   +5 more
core   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Outcomes of pregnancies with varying levels of nuchal translucency measurements: A population‐based retrospective study in Ontario, Canada

Acta Obstetricia et Gynecologica Scandinavica
Introduction Nuchal translucency prenatal ultrasound is widely used to screen for chromosomal abnormalities. An elevated nuchal translucency has been associated with adverse outcomes such as pregnancy loss; however, extant studies investigating these ...
Kara Bellai‐Dussault, Shelley D. Dougan, Deshayne B. Fell, Carolina Lavin Venegas, Julian Little, Lynn Meng, Nan Okun, Mark Walker, Christine M. Armour, Beth K. Potter   +9 more
doaj   +1 more source

Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China

BMC Medical Genetics, 2017
Background Phenylketonuria (PKU), which primarily results from a deficiency of phenylalanine hydroxylase (PAH), is one of the most common inherited inborn errors of metabolism that impairs postnatal cognitive development.
Ning Liu, Qiuying Huang, Qingge Li, Dehua Zhao, Xiaole Li, Lixia Cui, Ying Bai, Yin Feng, Xiangdong Kong   +8 more
doaj   +1 more source

Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies [PDF]

, 2015
Objectives To report clinical implementation of cell‐free DNA (cfDNA) analysis of maternal blood in screening for trisomies 21, 18 and 13 in twin pregnancies and examine variables that could influence the failure rate of the test.
BEVILACQUA, ELISA, E. Ordoñez, H. Dierickx, JC Jani, KH Nicolaides, MM Gil, PJ Willems, V. Cirigliano   +7 more
core   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

TESTING PATTERNS FOR SYPHILIS AND OTHER SEXUALLY TRANSMITTED INFECTIONS IN PREGNANT WOMEN PRESENTING TO EMERGENCY DEPARTMENTS [PDF]

, 2019
Following an initial decrease in the incidence of congenital syphilis from 2008-2012, the rate of congenital syphilis rose by 38% across the United States between 2012-2014 (2).
SHOYOMBO, IFEOLUWA
core   +1 more source