Open AccessClinical value for the detection of fetal chromosomal deletions/duplications by noninvasive prenatal testing in clinical practice
Author(s) -
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
Publication year - 2021
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1687
Subject(s) - gene duplication , medicine , false positive paradox , obstetrics , prenatal diagnosis , cohort , retrospective cohort study , clinical significance , fetus , gynecology , pregnancy , pathology , biology , genetics , gene , machine learning , computer science
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.