نتایج جستجو برای: noninvasive fetal electrocardiogram

تعداد نتایج: 132781  

2015
Viorica E Radoi Camil L Bohiltea Roxana E Bohiltea Dragos N Albu

BACKGROUND The discovery of circulating fetal DNA in maternal blood led to the discovery of new strategies to perform noninvasive testing for prenatal diagnosis. OBJECTIVE The purpose of the study was to detect fetal aneuploidy at chromosomes 13, 18, 21, X, and Y by analysis of fetal cell-free DNA from maternal blood, without endangering pregnancy. MATERIALS AND METHODS This retrospective s...

Journal: :Clinical chemistry 2013
James Z Z Qu Tak Y Leung Peiyong Jiang Gary J W Liao Yvonne K Y Cheng Hao Sun Rossa W K Chiu K C Allen Chan Y M Dennis Lo

BACKGROUND The current methods for distinguishing the zygosities of twins include ultrasound scanning, which is nondefinitive, and amniocentesis, which is invasive. We explored the use of massively parallel sequencing of maternal plasma DNA for the noninvasive prenatal assessment of the zygosities of twin pregnancies. METHODS Plasma DNA was extracted from blood collected from 8 women pregnant...

Journal: :American journal of clinical pathology 2008
Edna D'Souza Pratibha M Sawant Anita H Nadkarni Ajit Gorakshakar Dipika Mohanty Kanjaksha Ghosh Roshan B Colah

Our purpose was to develop and evaluate isolation and enrichment of fetal erythroblasts and a nested polymerase chain reaction (PCR) approach using fetal erythroblasts for detecting the beta-globin gene mutations for a noninvasive prenatal diagnosis of hemoglobinopathies. Maternal blood at different periods of gestation was layered on a Percoll density gradient for enrichment of fetal nucleated...

Journal: :Molecular Vision 2008
Ana Bustamante-Aragones Elena Vallespin Marta Rodriguez de Alba Maria Jose Trujillo-Tiebas Cristina Gonzalez-Gonzalez Dan Diego-Alvarez Rosa Riveiro-Alvarez Isabel Lorda-Sanchez Carmen Ayuso Carmen Ramos

PURPOSE Leber congenital amaurosis (LCA) is one of the most severe inherited retinal dystrophies with the earliest age of onset. Mutations in the Crumbs homologue 1 (CRB1; OMIM 600105) gene explain 10%-24% of cases with LCA depending on the population. The aim of the present work was to study a fetal mutation associated to LCA in maternal plasma by a new methodology in the noninvasive prenatal ...

Journal: :Science translational medicine 2012
Jacob O Kitzman Matthew W Snyder Mario Ventura Alexandra P Lewis Ruolan Qiu Lavone E Simmons Hilary S Gammill Craig E Rubens Donna A Santillan Jeffrey C Murray Holly K Tabor Michael J Bamshad Evan E Eichler Jay Shendure

Analysis of cell-free fetal DNA in maternal plasma holds promise for the development of noninvasive prenatal genetic diagnostics. Previous studies have been restricted to detection of fetal trisomies, to specific paternally inherited mutations, or to genotyping common polymorphisms using material obtained invasively, for example, through chorionic villus sampling. Here, we combine genome sequen...

2017
Bin Zhang Bei-Yi Lu Bin Yu Fang-Xiu Zheng Qin Zhou Ying-Ping Chen Xiao-Qing Zhang

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). Methods The study enrolled pregnant women who were prepared to undergo noninvasive prenatal testing (NIPT) in the second trimester. Cell-free fetal DNA (cffDNA) was extracted from the mother's peripheral ...

2010
Dana W. Y. Tsui Y. M. Doris Lam Wing S. Lee Tak Y. Leung Tze K. Lau Elizabeth T. Lau Mary H. Y. Tang Ranjit Akolekar Kypros H. Nicolaides Rossa W. K. Chiu Y. M. Dennis Lo Stephen S. C. Chim

BACKGROUND Noninvasive prenatal diagnosis of fetal aneuploidy by maternal plasma analysis is challenging owing to the low fractional and absolute concentrations of fetal DNA in maternal plasma. Previously, we demonstrated for the first time that fetal DNA in maternal plasma could be specifically targeted by epigenetic (DNA methylation) signatures in the placenta. By comparing one such methylate...

2011
Gerald Bertrand Moustapha Drame Corinne Martageix Cecile Kaplan

Fetal/neonatal alloimmune thrombocytopenia is the most common cause of severe thrombocytopenia in the fetus and in an otherwise healthy newborn. To counter the consequences of severe fetal thrombocytopenia, antenatal therapies have been implemented. Predictive parameters for fetal severe thrombocytopenia are important for the development of noninvasive strategy and tailored intervention. We rep...

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