Noninvasive Prenatal Diagnosis Using Next-Generation Sequencing

2013 ◽  
pp. 241-251
Author(s):  
Nancy Bo Yin Tsui ◽  
Yuk Ming Dennis Lo
Keyword(s):  
Prenatal Diagnosis ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
Noninvasive Prenatal Diagnosis ◽  
Generation Sequencing

Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing

2016 ◽  
Vol 35 (4) ◽  
pp. 282-285 ◽  
Author(s):  
Maryam Rafati ◽  
Faezeh Mohamadhashem ◽  
Azadeh Hoseini ◽  
Somayeh Darzi Ramandi ◽  
Saeed Reza Ghaffari
Keyword(s):  
Prenatal Diagnosis ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
Tyrosinemia Type 1 ◽  
Generation Sequencing

A new approach for Next Generation Sequencing in prenatal diagnosis applied to a case of Charcot-Marie-Tooth syndrome

2015 ◽  
Vol 35 (10) ◽  
pp. 1018-1021 ◽  
Author(s):  
Claudio Dello Russo ◽  
Francesco Padula ◽  
Gianluca Di Giacomo ◽  
Alvaro Mesoraca ◽  
Ivan Gabrielli ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Next Generation Sequencing ◽  
Next Generation ◽  
New Approach ◽  
Charcot Marie Tooth ◽  
Generation Sequencing

scholarly journals A Rapid PCR-Free Next-Generation Sequencing Method for the Detection of Copy Number Variations in Prenatal Samples

Life ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 98
Author(s):  
Xiya Zhou ◽  
Xiangbin Chen ◽  
Yulin Jiang ◽  
Qingwei Qi ◽  
Na Hao ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Next Generation Sequencing ◽  
Copy Number ◽  
Genomic Dna ◽  
Sex Chromosome ◽  
Copy Number Variations ◽  
Next Generation ◽  
Sequencing Data ◽  
Clinically Significant ◽  
Generation Sequencing

Next-generation sequencing (NGS) is emerging as a new method for the detection of clinically significant copy number variants (CNVs). In this study, we developed and validated rapid CNV-sequencing (rCNV-seq) for clinical application in prenatal diagnosis. Low-pass whole-genome sequencing was performed on PCR libraries prepared from amniocyte genomic DNA. From 10–40 ng of input DNA, PCR-free libraries consistently produced sequencing data with high unique read mapping ratios, low read redundancy, low coefficient of variation for all chromosomes and high genomic coverage. In validation studies, reliable and accurate CNV detection using PCR-free-based rCNV-seq was demonstrated for a range of common trisomies and sex chromosome aneuploidies as well as microdeletion and duplication syndromes. In reproducibility studies, CNV copy number and genomic intervals closely matched those defined by chromosome microarray analysis. Clinical testing of genomic DNA samples from 217 women referred for prenatal diagnosis identified eight samples (3.7%) with known chromosome disorders. We conclude that PCR-free-based rCNV-seq is a sensitive, specific, reproducible and efficient method that can be used in any NGS-based diagnostic laboratory for detection of clinically significant CNVs.

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