scholarly journals Noninvasive Prenatal Testing for Fetal Chromosomal Abnormalities Using Massively Parallel Sequencing: Clinical Experience from 7910 Korean Pregnancies

2018 ◽  
Vol 08 (03) ◽  
pp. 42-53
Author(s):  
Seon Young Yun ◽  
Hyuk Jung Kwon ◽  
Amit Goyal ◽  
Katiyar P. Shashank ◽  
Heesu Im ◽  
...  
Keyword(s):  
Clinical Experience ◽  
Chromosomal Abnormalities ◽  
Massively Parallel Sequencing ◽  
Prenatal Testing ◽  
Massively Parallel ◽  
Noninvasive Prenatal Testing ◽  
Parallel Sequencing

Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing

2013 ◽  
Vol 33 (5) ◽  
pp. 409-415 ◽  
Author(s):  
Desheng Liang ◽  
Weigang Lv ◽  
Hua Wang ◽  
Liangpu Xu ◽  
Jing Liu ◽  
...  
Keyword(s):  
Massively Parallel Sequencing ◽  
Prenatal Testing ◽  
Massively Parallel ◽  
Parallel Sequencing ◽  
Non Invasive ◽  
Chromosome Aneuploidy

scholarly journals Combined Count- and Size-Based Analysis of Maternal Plasma DNA for Noninvasive Prenatal Detection of Fetal Subchromosomal Aberrations Facilitates Elucidation of the Fetal and/or Maternal Origin of the Aberrations

2017 ◽  
Vol 63 (2) ◽  
pp. 495-502 ◽  
Author(s):  
Stephanie C Y Yu ◽  
Peiyong Jiang ◽  
K C Allen Chan ◽  
Brigitte H W Faas ◽  
Kwong W Choy ◽  
...  
Keyword(s):  
Massively Parallel Sequencing ◽  
Prenatal Testing ◽  
Maternal Plasma ◽  
Massively Parallel ◽  
Test Cases ◽  
Plasma Dna ◽  
Diagnostic Specificity ◽  
Noninvasive Prenatal Testing ◽  
Prenatal Detection ◽  
Positive Results

Abstract BACKGROUND Noninvasive prenatal detection of fetal subchromosomal copy number aberrations (CNAs) can be achieved through massively parallel sequencing of maternal plasma DNA. However, when a mother herself is a carrier of a CNA, one cannot discern if her fetus has inherited the CNA. In addition, false-positive results would become more prevalent when more subchromosomal regions are analyzed. METHODS We used a strategy that combined count- and size-based analyses of maternal plasma DNA for the detection of fetal subchromosomal CNAs in 7 target regions for 10 test cases. RESULTS For the 5 cases in which CNAs were present only in the fetus, the size-based approach confirmed the aberrations detected by the count-based approach. For the 5 cases in which the mother herself carried an aberration, we successfully deduced that 3 of the fetuses had inherited the aberrations and that the other 2 fetuses had not inherited the aberrations. No false positives were observed in this cohort. CONCLUSIONS Combined count- and size-based analysis of maternal plasma DNA permits the noninvasive elucidation of whether a fetus has inherited a CNA from its mother who herself is a carrier of the CNA. This strategy has the potential to improve the diagnostic specificity of noninvasive prenatal testing.

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