1. Prenatal Detection of Aneuploidy and Imbalanced Chromosomal Arrangements by Massively Parallel Sequencing
- Author
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Kwong Wai Choy, Yue Su, Tak Yeung Leung, Xiuqing Zhang, Fuman Jiang, Jingrong Lin, Shengpei Chen, Shan Dan, Weiyuan Zhang, Tze Kin Lau, Zhaoling Xuan, Wei Wang, Hui Jiang, Xuchao Li, and Fang Chen
- Subjects
Male ,Numerical Chromosomal Abnormality ,lcsh:Medicine ,Aneuploidy ,Chorionic villus sampling ,Prenatal diagnosis ,Chromosome Disorders ,Biology ,DNA sequencing ,Chromosomal Disorders ,Pregnancy ,Prenatal Diagnosis ,medicine ,Genetics ,Humans ,Copy-number variation ,lcsh:Science ,Whole genome sequencing ,Clinical Genetics ,Multidisciplinary ,Massive parallel sequencing ,medicine.diagnostic_test ,lcsh:R ,Computational Biology ,High-Throughput Nucleotide Sequencing ,Human Genetics ,Genomics ,medicine.disease ,Karyotyping ,Medicine ,lcsh:Q ,Female ,Research Article - Abstract
Fetal chromosomal abnormalities are the most common reasons for invasive prenatal testing. Currently, G-band karyotyping and several molecular genetic methods have been established for diagnosis of chromosomal abnormalities. Although these testing methods are highly reliable, the major limitation remains restricted resolutions or can only achieve limited coverage on the human genome at one time. The massively parallel sequencing (MPS) technologies which can reach single base pair resolution allows detection of genome-wide intragenic deletions and duplication challenging karyotyping and microarrays as the tool for prenatal diagnosis. Here we reported a novel and robust MPS-based method to detect aneuploidy and imbalanced chromosomal arrangements in amniotic fluid (AF) samples. We sequenced 62 AF samples on Illumina GAIIx platform and with averagely 0.01× whole genome sequencing data we detected 13 samples with numerical chromosomal abnormalities by z-test. With up to 2× whole genome sequencing data we were able to detect microdeletion/microduplication (ranged from 1.4 Mb to 37.3 Mb of 5 samples from chorionic villus sampling (CVS) using SeqSeq algorithm. Our work demonstrated MPS is a robust and accurate approach to detect aneuploidy and imbalanced chromosomal arrangements in prenatal samples.
- Published
- 2012