Results 41 to 50 of about 4,187,133 (314)

Discrepancy of QF-PCR, CMA and karyotyping on a de novo case of mosaic isodicentric Y chromosomes

Molecular Cytogenetics, 2019
Background Isodicentric chromosomes are the most frequent structural aberrations of human Y chromosome, and usually present in mosaicism with a 45, X cell line.
Yuan Liu, Li Guo, Hanbiao Chen, Jian Lu, Jingjing Hu, Xianzheng Li, Xing Li, Ting Wang, Fengzhen Li, Aihua Yin   +9 more
doaj   +1 more source

Effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray on detection of copy number variants and uniparental disomy in prenatal diagnosis: Results from 5026 pregnancies

Prenatal Diagnosis, 2019
We evaluated the effects of platforms, size filter cutoffs, and targeted regions of cytogenomic microarray (CMA) on the detection of copy number variants (CNVs) and uniparental disomy (UPD) in prenatal diagnosis.
Jia-Chi Wang, J. Radcliff, Sandra J Coe, Loretta W. Mahon   +3 more
semanticscholar   +1 more source

Analysis of Down syndrome failed to be diagnosed after prenatal screening: A multicenter study. [PDF]

, 2017
To analyze the characters of Down syndrome (DS) who failed to be diagnosed after prenatal screening and hope to be able to improve the programs of prenatal screening and reduce the missed diagnosis of DS.
Ding, Jie, Jiang, Tao, Wang, Ting, Yu, Bin, Zhang, Bin, Zhang, Xiao-Juan, Zhang, Xiao-Qing   +6 more
core   +1 more source

C-banding and AgNOR-staining were still effective complementary methods to indentify chromosomal heteromorphisms and some structural abnormalities in prenatal diagnosis

Molecular Cytogenetics, 2019
Background In prenatal diagnosis, CMA has begun to emerge as a favorable alternative to karyotype analysis, but it could not identify balanced translocations, triploidies, inversion and heteromorphisms.
Jian Jiang Zhu, Hong Qi, Li Rong Cai, Xiao Hui Wen, Wen Zeng, Guo Dong Tang, Yao Luo, Ran Meng, Xue Qun Mao, Shao Qin Zhang   +9 more
doaj   +1 more source

A rare Down syndrome foetus with de novo 21q;21q rearrangements causing false negative results in non-invasive prenatal testing: a case report

BMC Medical Genomics, 2020
Background Non-invasive prenatal testing (NIPT) has been established as a routine prenatal screening to assess the risk of common foetal aneuploidy disorder (trisomy 21, 18, and 13).
Hui-Hui Xu, Mei-Zhen Dai, Kai Wang, Yang Zhang, Fei-Yan Pan, Wei-Wu Shi   +5 more
doaj   +1 more source

Noninvasive prenatal diagnosis

Taiwanese Journal of Obstetrics and Gynecology, 2015
Prenatal examination plays an important role in present medical diagnosis. It provides information on fetal health status as well as the diagnosis of fetal treatment feasibility. The diagnosis can provide peace of mind for the perspective mother. Timely pregnancy termination diagnosis can also be determined if required.
Hua-Wei Tseng, Ching-Hua Hsiao, Wei-Lun Cheng, Tai-Ping Lee   +3 more
openaire   +3 more sources

ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient?

Prenatal Diagnosis, 2018
The American College of Obstetricians and Gynecologists (ACOG) and Society for Maternal‐Fetal Medicine (SMFM) recommend chromosomal microarray analysis (CMA) for prenatal diagnosis in cases with 1 or more fetal structural abnormalities.
Sara B Hay, T. Sahoo, Mary K. Travis, K. Hovanes, N. Dzidic, Charles Doherty, M. Strecker   +6 more
semanticscholar   +1 more source

Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory [PDF]

, 2016
Objectives: To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples.
De Smet, Matthias, Dheedene, Annelies, Grisart, Bernard, Janssens, Sandra, Menten, Björn, Sante, Tom, Vanbellinghen, Jean-François, Vergult, Sarah   +7 more
core   +2 more sources

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

Genetics in Medicine, 2018
Unexpected fetal abnormalities occur in 2–5% of pregnancies. While traditional cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision making, and ...
N. Chandler, Sunayna Best, Jane D. Hayward, F. Faravelli, S. Mansour, E. Kivuva, Dagmar Tapon, Alison M. Male, C. Devile, L. Chitty   +9 more
semanticscholar   +1 more source

Prenatal diagnosis of rearrangements in the fetal 22q11.2 region

Molecular Cytogenetics, 2020
Background 22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the ...
Suping Li, Yuxia Jin, Jing Yang, Li Yang, Ping Tang, Chiyan Zhou, Liping Wu, Jinhua Dong, Jie Chen, Huaxiang Shen   +9 more
doaj   +1 more source