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. 2020 Sep;24(17):9936-9944.
doi: 10.1111/jcmm.15593. Epub 2020 Jul 15.

Applying high-throughput sequencing to identify and evaluate foetal chromosomal deletion and duplication

Yueli Wu  1 , Linlin Zhang  2 , Hong Lv  1 , Ying Li  1 , Chongyang Zhu  1 , Weifang Tian  1 , Ling Zhao  1
Affiliations

Applying high-throughput sequencing to identify and evaluate foetal chromosomal deletion and duplication

Yueli Wu et al. J Cell Mol Med. 2020 Sep.

Abstract

The present study aimed to estimate the clinical performance of non-invasive prenatal testing (NIPT) based on high-throughput sequencing method for the detection of foetal chromosomal deletions and duplications. A total of 6348 pregnant women receiving NIPT using high-throughput sequencing method were included in our study. They all conceived naturally, without twins, triplets or multiple births. Individuals showing abnormalities in NIPT received invasive ultrasound-guided amniocentesis for chromosomal karyotype and microarray analysis at 18-24 weeks of pregnancy. Detection results of foetal chromosomal deletions and duplications were compared between high-throughput sequencing method and chromosomal karyotype and microarray analysis. Thirty-eight individuals were identified to show 51 chromosomal deletions/duplications via high-throughput sequencing method. In subsequent chromosomal karyotype and microarray analysis, 34 subchromosomal deletions/duplications were identified in 26 pregnant women. The observed deletions and duplications ranged from 1.05 to 17.98 Mb. Detection accuracy for these deletions and duplications was 66.7%. Twenty-one deletions and duplications were found to be correlated with the known abnormalities. NIPT based on high-throughput sequencing technique is able to identify foetal chromosomal deletions and duplications, but its sensitivity and specificity were not explored. Further progress should be made to reduce false-positive results.

Keywords: cell-free foetal DNA; chromosomal abnormalities; chromosomal deletions/duplications; high-throughput sequencing; non-invasive prenatal testing.

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Conflict of interest statement

The authors have no conflicts of interest to disclose.

Figures

FIGURE 1
FIGURE 1
Diagram summarizing the non‐invasive prenatal testing results of the included pregnant women. Chromosomal abnormalities were observed in 254 individuals, accounting for 4.0%. Chromosomal deletion/duplication was observed in 38 cases, accounting for 0.59%
FIGURE 2
FIGURE 2
The types of chromosomal abnormalities in the study population
See this image and copyright information in PMC

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