Results 101 to 110 of about 22,195,386 (187)

Prenatal Chromosomal Microarray Analysis and Whole-Exome Sequencing in Fetuses with Thickened Nuchal Translucency [PDF]

Background: Fetal chromosomal abnormalities predispose the fetus to developmental malformations, which can reduce the quality of newborn births. This study aimed to investigate the clinical utility of chromosomal microarray analysis (CMA) and whole-exome
Li, Huijun, Li, Yu, Liu, Xinhong, Dai, Wencheng, Mijit, Gulnaz, Ding, Guifeng   +5 more
core   +1 more source

255: First trimester serum analytes as predictors of pathologic copy number variants (CNV) on chromosomal microarray analysis (CMA) [PDF]

American Journal of Obstetrics and Gynecology, 2018
Moti Gulersen, Michael Divon, Stephanie Baum, David Krantz, Kristen Maliszewski, Victoria Minior, Madeleine DeVita, Eran Bornstein   +7 more
openaire   +1 more source

Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis

Novel methodologies for detection of chromosomal abnormalities have been made available in the recent years but their clinical utility in prenatal settings is still unknown.
García Pérez, Lidia, Mansilla, Elena, Nevado, Julián, Armengol i Dulcet, Lluís, Serra Juhé, Clara, 1984-, García Aragonés, Manel, Lapunzina, Pablo Daniel, Mediano, Carmen, Pérez Jurado, Luis Alberto, Villa Marcos, Olaya, Mori, María Ángeles, García Santiago, Fe Amalia, Fernández, Luis, Preciado, Cristina   +13 more
core  

Prenatal diagnosis and pregnancy outcomes of mosaicism detected by CMA-seq

BMC Pregnancy and Childbirth
Background The aim of this study was to investigate the detection capability of medium-coverage whole-genome sequencing for chromosomal mosaicism in prenatal diagnosis, and to evaluate the pregnancy outcome of mosaicism.
Jiazhen Chang, Mengmeng Li, Yulin Jiang, Xiya Zhou, Na Hao, Yiqing Yu, Yan Lü, Qingwei Qi   +7 more
doaj   +1 more source

Clinical Utility of Optical Genome Mapping for Improved Cytogenomic Analysis of Gliomas

Biomedicines
A glioma is a solid brain tumor which originates in the brain or brain stem area. The diagnosis of gliomas based on standard-of-care (SOC) techniques includes karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray (CMA), for ...
Harmanpreet Singh, Nikhil S. Sahajpal, Ashis K. Mondal, Stephanie L. Burke, Jaspreet Farmaha, Ahmet Alptekin, Ashutosh Vashisht, Kimya Jones, Vishakha Vashisht, Ravindra Kolhe   +9 more
doaj   +1 more source

Effective detection of 148 cases chromosomal mosaicism by karyotyping, chromosomal microarray analysis and QF-PCR in 32,967 prenatal diagnoses

Background Detection of mosaicism has always been difficult in prenatal diagnosis, which is to assess the value of karyotyping combined with three different molecular genetic tests for prenatal diagnosis. Retrospective review of chromosomal mosaicism (CM)
Yi Deng, Danni Wang, Ping Wei, Guangming Deng, Jin Wang, Lan Zeng, Chun Chen, Shuyao Zhu, Zhiling Wu, Mengling Ye   +9 more
core   +1 more source

Prenatal diagnosis and genetic assessment of fetuses with single umbilical artery using chromosomal microarray analysis: a seven-year single-center retrospective study

BMC Pregnancy and Childbirth
Background The inherited causes behind fetuses with a single umbilical artery (SUA) are still poorly understood, largely because published studies are scarce. In the present research, efforts were made to uncover the genetic factors at play and to assess
Jianlong Zhuang, Nan Huang, Yu’e Chen, Jialing Wu, Xiaofang Ye, Chunnuan Chen   +5 more
doaj   +1 more source

Paving the way for integrating genetic testing into clinical care in childhood‐onset schizophrenia

General Psychiatry, Volume 39, Issue 5, October 2026.
Arnaud Fernandez, Philippe Auby, Boris Chaumette, Gaelle Laure, Susanne Thümmler, Florence Askenazy   +5 more
wiley   +1 more source

Chromosomal abnormalities detected by chromosomal microarray analysis and pregnancy outcomes of 4211 fetuses with high-risk prenatal indications

Scientific Reports
With the gradual liberalization of the three-child policy and the development of assisted reproductive technology in China, the number of women with high-risk pregnancies is gradually increasing.
Huafeng Li, Juan Hu, Qingyu Wu, Jigang Qiu, Li Zhang, Jinping Zhu   +5 more
doaj   +1 more source

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases.

, 2007
BackgroundArray Comparative Genomic Hybridization (a-CGH) is a powerful molecular cytogenetic tool to detect genomic imbalances and study disease mechanism and pathogenesis.
Chinault A. Craig, William R Wells, Carlos A Bacino, A Craig Chinault, Lu Xinyan, Stankiewicz Pawel, Ward Patricia A., Wells William R., Patricia A Ward, Ou Zhishu, Chad A Shaw, Lupski James R., Yatsenko Svetlana A., Shaw Chad A., Cheung Sau W., Li Jiangzhen, Sahoo Trilochan, Beaudet Arthur L., Zhishu Ou, Jiangzhen Li, Patel Ankita, Svetlana A Yatsenko, Arthur L Beaudet, Cathy M Sullivan, Cooper M. Lance, Sullivan Cathy M., Pawel Stankiewicz, M Lance Cooper, Xinyan Lu, Trilochan Sahoo, Ankita Patel, Sau W Cheung, James R Lupski, Bacino Carlos A.   +33 more
core   +1 more source