نتایج جستجو برای: cell free fetal dna

تعداد نتایج: 2521461  

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...

Journal: :In vivo 2011
Georgia Tounta Christina Vrettou Aggeliki Kolialexi Nikolas Papantoniou Aspasia Destouni George T Tsangaris Aris Antsaklis Emmanuel Kanavakis Ariadni Mavrou

AIM To design a protocol for non-invasive prenatal diagnosis of fetal Rhesus D (RhD) status. MATERIALS AND METHODS A total of 112 single lymphocytes were used to test the efficiency of the assay. The protocol was validated using blood samples from 84 RhD-negative pregnant women at 7-24 weeks of gestation. Cell-free DNA (cfDNA) was enzymatically digested using AciI and analyzed by a polymerase...

Journal: :Journal of prenatal medicine 2014
Nella Dugo Francesco Padula Luisa Mobili Cristiana Brizzi Laura D'Emidio Pietro Cignini Alvaro Mesoraca Domenico Bizzoco Antonella Cima Claudio Giorlandino

INTRODUCTION recent studies have proposed the introduction of cell-free fetal DNA testing (NIPT-Non Invasive Prenatal Testing) in routine clinical practice emphasizing its high sensibility and specificity. In any case, false positive and false negative findings may result from placental mosaicism, because cell-free fetal DNA originates mainly from placenta. CASE WE REPORT SIX CASES OF WOMEN W...

2013
Ji Hyae Lim So Yeon Park Hyun Mee Ryu

Since the existence of cell-free fetal DNA (cff-DNA) in maternal circulation was discovered, it has been identified as a promising source of fetal genetic material in the development of reliable methods for non-invasive prenatal diagnosis (NIPD) of fetal trisomy 21 (T21). Currently, a prenatal diagnosis of fetal T21 is achieved through invasive techniques, such as chorionic villus sampling or a...

Journal: :Human reproduction update 2011
Attie T J I Go John M G van Vugt Cees B M Oudejans

BACKGROUND Cell-free fetal DNA (cff DNA) and RNA can be detected in maternal plasma and used for non-invasive prenatal diagnostics. Recent technical advances have led to a drastic change in the clinical applicability and potential uses of free fetal DNA and RNA. This review summarizes the latest clinical developments in non-invasive prenatal diagnosis in the context of the latest technical deve...

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 ...

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