Efficiency of noninvasive prenatal testing for the detection of fetal microdeletions and microduplications in autosomal chromosomes. Issue 8 (15th June 2020)

• Record Type: Journal Article
• Authors: Pei, Yuanyuan; Hu, Liang; Liu, Jinxing; Wen, Lijuan; Luo, Xiaojin; Lu, Jian; Wei, Fengxiang
• Is Part Of: Molecular genetics & genomic medicine. Volume 8:Issue 8(2020)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2020-06-15
• Subjects: chromosomal microarray -- copy number variation -- karyotype analysis -- noninvasive prenatal testing -- positive predictive value; Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.1339
• Languages: English
• ISSNs: 2324-9269

Abstract

Abstract: Background: Noninvasive prenatal testing (NIPT) is commonly used to screen for fetal genetic abnormalities. However, the ability of NIPT to detect copy number variations (CNVs) has not been reported. Accordingly, in this study, we analyzed the efficiency of NIPT for the detection of fetal autosomal CNVs. Methods: Patients who were positive for autosomal CNVs by NIPT and underwent diagnostic studies by karyotype analysis and chromosomal microarray (CMA) were evaluated. Samples were divided into groups according to age, in vitro fertilization, fetal‐free DNA concentration, uniquely mapped reads number, CNV size, and CNV type. Results: Chromosomal microarray showed that the positive predictive value (PPV) of autosomal CNVs detected by NIPT was 14.89%. Increasing fetal DNA concentrations and uniquely mapped read numbers did not affect the PPV of CNVs detected by NIPT. There were no differences between microduplication and microdeletion PPVs detected by NIPT. The PPV of CNVs less than 10 Mb was significantly higher than that of CNVs greater than 10 Mb detected by NIPT. Conclusion: The accuracy of NIPT for autosomal CNVs needs to be improved. Abstract : The positive predictive value of copy number variations (CNVs) less than 10 Mb was significantly higher than that of CNVs greater than 10 Mb detected by Noninvasive prenatal testing (NIPT). NIPT was effective for detecting CNVs less than 10 Mb.