Results 61 to 70 of about 158,757 (260)

Noninvasive prenatal tests for chromosomal abnormality screening in in vitro fertilisation elderly pregnant women in northwest China [PDF]

Journal of Medical Biochemistry
Background: The study aimed to explore the value of using noninvasive prenatal tests (NIPT) in the second trimester of pregnancy for chromosomal abnormality screening in vitro fertilisation (IVF) in elderly pregnant women and to analyse the reasons for ...
Xue Shuyuan, Wang Lixia, Yu Zhen, Zhu Jingying, Feng Le, Din Guifeng, Dai Penggao   +6 more
doaj   +1 more source

The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and Education

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is a group of rare congenital conditions, characterized by multiple joint contractures but may involve any body system including central nervous system. AMC is etiologically heterogeneous, with over 400 genetic and many non‐genetic causes implicated in its prenatal development.
Shahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, Johanna I. P. de‐Vries, Klaus Dieterich, Alicja Fafara, Isabel Filges, Philip Giampietro, Göknur Haliloğlu, Judith Hall, Coleman Hilton, Remco Jansen, Valentina Maestri, Carolina Navalon, Daniel Natera de Benito, Tony Pan, Ani Samargian, Bonita Sawatzky, Harold van Bosse, Paul A. Trainor, Noémi Dahan‐Oliel   +20 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Functional analysis of a novel homozygous missense IVD gene variant: a case report with dual genetic diagnoses

Frontiers in Pediatrics
BackgroundGenomic or exome sequencing is beneficial for identifying more than one pathogenic variation causing blended atypical and/or severe phenotypes.
Yuying Zhu, Ke Wu, Hanying Wen
doaj   +1 more source

Analyzing false‐negative results detected in low‐risk non‐invasive prenatal screening cases

Molecular Genetics & Genomic Medicine, 2020
Background The non‐invasive prenatal screening (NIPS) has been introduced into clinical practice with a high sensitivity and specificity. Although the false‐negative results are inevitable and important, limited false‐negative NIPS results have been ...
Ying Lin, Dong Liang, Yan Wang, Hang Li, An Liu, Ping Hu, Zhengfeng Xu   +6 more
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

Optical Genome Mapping for Chromosomal Aberrations Detection—False-Negative Results and Contributing Factors

Diagnostics
Optical genome mapping (OGM) has been known as an all-in-one technology for chromosomal aberration detection. However, there are also aberrations beyond the detection range of OGM.
Yiyun Xu, Qinxin Zhang, Yan Wang, Ran Zhou, Xiuqing Ji, Lulu Meng, Chunyu Luo, An Liu, Jiao Jiao, Hao Chen, Huasha Zeng, Ping Hu, Zhengfeng Xu   +12 more
doaj   +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

A multicenter study of fetal chromosomal abnormalities in Chinese women of advanced maternal age

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objective: This study aimed to determine the rates of different fetal chromosomal abnormalities among women of advanced maternal age in China and to discuss the possible misdiagnosis risks of newer molecular techniques, for selection of appropriate ...
Yuning Zhu, Shiming Lu, Xuming Bian, He Wang, Baosheng Zhu, Hua Wang, Zhengfeng Xu, Liangpu Xu, Weihua Yan, Yan Zeng, Zhiyang Chen, Shaohua Tang, Guosong Shen, Zhengyou Miao   +13 more
doaj   +1 more source

Maternal‐Fetal Administration of Risdiplam Partially Rescues the SMNΔ7 Mouse Model of Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene and subsequent reduction in the expression of survival motor neuron (SMN) protein. The disease is characterized by degeneration of α motor neurons and subsequent muscle atrophy.
Emma R. Sutton, Ariane Beauvais, Rebecca Yaworski, Hugh J. McMillan, Rashmi Kothary   +4 more
wiley   +1 more source