Clinical value for the detection of fetal chromosomal deletions/duplications by noninvasive prenatal testing in clinical practice. Issue 6 (5th May 2021)

• Record Type: Journal Article
• Authors: Gou, Lingshan; Suo, Feng; Wang, Yi; Wang, Na; Wu, Qin; Hu, Shunan; Wang, Peng; Gu, Lize; Zhang, Man; Wang, Chuanxia; Zhang, Yan; Yin, Xin; Zhang, Peng; Xu, Jian; Wang, Xingqi; Gu, Maosheng
• Is Part Of: Molecular genetics & genomic medicine. Volume 9:Issue 6(2021)
• Page Start: n/a
• Page End: n/a
• Publication Date: 2021-05-05
• Subjects: chromosomal microarray analysis -- deletion -- duplication -- fetus -- NIPT -- prenatal diagnosis; Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.1687
• Languages: English
• ISSNs: 2324-9269

Abstract

Abstract: Objective: This study was to report the experiences on the clinical value of noninvasive prenatal testing (NIPT) for the screening of fetal chromosomal deletions/duplications. Methods: We performed a retrospective analysis of a cohort of 20, 439 pregnancies undergoing NIPT from March 2017 to September 2020 at a single center. Patients with positive NIPT results for fetal chromosomal deletions or duplications had options of invasive diagnostic testing or no further testing. The data were complied from all cases with positive NIPT results for chromosomal deletions/duplications. The positive predictive value (PPV) was calculated from tabulated data. Results: In this cohort, positive NIPT results for fetal chromosomal deletions/duplications were found in 60 pregnant women. Of the positive samples, further invasive testing was performed in 39 cases, in which 9 cases were found to be true positive. The overall PPV for chromosomal deletions/duplications was 23.1%. In addition, fetal structural anomaly was found by ultrasound examination in three cases, in which the chromosomal deletions/duplications of three cases were not verified. Moreover, an unexpected pathogenic 8p23.3 deletion was identified by invasive testing in 1 fetus with a false positive NIPT screen for 3q27.3q29 duplication. Conclusions: In summary, positive NIPT results of chromosomal deletions/duplications were not uncommon in clinical practice, whereas the PPV for the testing was low. Hence, potential risks and high percentage of false positives for these abnormal NIPT results might be informed to pregnant women before the choice made of invasive testing. Abstract : Confirmatory invasive diagnostic testing might be used for the positive noninvasive prenatal testing (NIPT) screens of fetal chromosomal deletions/duplications in clinical practice, while caution for the low accuracy should be noted. Moreover, maternal chromosomal aberrations were important factors affecting the accuracy of NIPT for the detection of fetal chromosomal deletions/duplications.