نتایج جستجو برای: free fetal dna

تعداد نتایج: 1076070  

2014

Description of Procedure or Service Rhesus (Rh) D-negative women who are exposed to RhD-positive red blood cells can develop anti-Rh antibodies, which can cross the placenta and cause fetal anemia. If undiagnosed and untreated, alloimmunization can cause significant perinatal morbidity and mortality. Determining the Rh status of the fetus may guide subsequent management of the pregnancy. The us...

Journal: :Seminars in fetal & neonatal medicine 2008
Neil D Avent Zoe E Plummer Tracey E Madgett Deborah G Maddocks Peter W Soothill

Non-invasive prenatal diagnosis (NIPD) offers the opportunity to eliminate completely the risky procedures of amniocentesis and chorionic villus sampling. The development of NIPD tests has largely centred around the isolation and analysis of fetal cells in the maternal circulation and the analysis of free fetal DNA in maternal plasma. Both of these techniques offer difficult technical challenge...

Journal: :Lancet 2001
M Hulten

Down syndrome (trisomy 21), which has an incidence of 1 in 800 live births, is considered to be the most frequent etiology of mental retardation and it is the predominant reason for women seeking prenatal diagnosis [Driscoll & Gross, 2009]. Trisomy 21 is used as a benchmark because it is the most common aneuploidy compatible with life and is associated with mental retardation and serious congen...

2010
H. Christina Fan Stephen R. Quake

We recently demonstrated noninvasive detection of fetal aneuploidy by shotgun sequencing cell-free DNA in maternal plasma using next-generation high throughput sequencer. However, GC bias introduced by the sequencer placed a practical limit on the sensitivity of aneuploidy detection. In this study, we describe a method to computationally remove GC bias in short read sequencing data by applying ...

Journal: :Clinical chemistry 2016
George Koumbaris Elena Kypri Kyriakos Tsangaras Achilleas Achilleos Petros Mina Maria Neofytou Voula Velissariou Georgia Christopoulou Ioannis Kallikas Alicia González-Liñán Egle Benusiene Anna Latos-Bielenska Pietryga Marek Alfredo Santana Nikoletta Nagy Márta Széll Piotr Laudanski Elisavet A Papageorgiou Marios Ioannides Philippos C Patsalis

BACKGROUND There is great need for the development of highly accurate cost effective technologies that could facilitate the widespread adoption of noninvasive prenatal testing (NIPT). METHODS We developed an assay based on the targeted analysis of cell-free DNA for the detection of fetal aneuploidies of chromosomes 21, 18, and 13. This method enabled the capture and analysis of selected genom...

2013
Herb Brar Eric Wang Craig Struble Thomas J. Musci Mary E. Norton

OBJECTIVE To determine the relationship between a priori risk for fetal trisomy and the fraction of fetal cell-free DNA (cfDNA) in maternal blood. METHODS A comparative analysis on fetal cfDNA amounts was performed in subjects stratified into a priori risk groups based on maternal age, prenatal screening results, or nuchal translucency measurement. RESULTS Across the highest and lowest deci...

Journal: :Clinical chemistry 2012
Sharon M Geaghan

BACKGROUND Emerging antenatal interventions and care delivery to the fetus require diagnostic support, including laboratory technologies, appropriate methodologies, establishment of special algorithms, and interpretative guidelines for clinical decision-making. CONTENT Fetal diagnostic and therapeutic interventions vary in invasiveness and are associated with a spectrum of risks and benefits....

Journal: :Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2014
C H Yeang G C Ma H W Hsu Y S Lin S M Chang P J Cheng C A Chen Y H Ni M Chen

OBJECTIVES Non-invasive prenatal testing for fetal trisomy 21 (T21) by massively parallel shotgun sequencing (MPSS) is available for clinical use but its efficacy is limited by several factors, e.g. the proportion of cell-free fetal DNA in maternal plasma and sequencing depth. Existing algorithms discard DNA reads from the chromosomes for which testing is not being performed (i.e. those other t...

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