The Clinical Utility of Non-invasive Prenatal Testing for Pregnant Women With Different Diagnostic Indications
| Autor: | Ning An, Mengjun Xu, Haiyan Lu, Fangfang Yang, Yun Zhou, Min Li, Jing-jing Dong, Qing-e Zhang, Yongjuan Guan, Jianli Zheng |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty lcsh:QH426-470 sex chromosome aneuploidies 03 medical and health sciences 0302 clinical medicine medicine Genetics Advanced maternal age Copy-number variation Pregnancy outcomes Genetics (clinical) Original Research non-invasive prenatal testing Plasma samples Obstetrics business.industry Non invasive copy number variation medicine.disease Predictive value trisomy 21 lcsh:Genetics 030104 developmental biology 030220 oncology & carcinogenesis Molecular Medicine Intermediate risk Trisomy business rare autosomal trisomies |
| Zdroj: | Frontiers in Genetics, Vol 11 (2020) Frontiers in Genetics |
| ISSN: | 1664-8021 |
| DOI: | 10.3389/fgene.2020.00624/full |
| Popis: | Background Our aim was to evaluate the clinical utility of non-invasive prenatal testing for pregnant women with different diagnostic indications. Methods In eight counties and districts of Yancheng, we studied 13,149 pregnant women with different indications who were offered NIPT for fetal screening, including for sex chromosomal aneuploidies (SCAs), rare autosomal trisomies (RATs), and subchromosomal copy number variations (CNVs). The purpose was to compare the detection of positive predictive values (PPVs) of different indications with the use of NIPT. The results were validated by karyotyping, chromosomal microarray analysis (CMA), or follow-up of pregnancy outcomes. Results 13,149 maternal plasma samples were sequenced, among which 28 samples (0.2%) failed the sequencing quality control. The remaining 13,121 samples were analyzed, and birth follow-up missed 2,192 samples (16.7%). The PPVs of NIPT results for trisomy 21 (T21) and trisomy 18 (T18) and SCAs were 96.67, 63.64, and 31.34%, respectively. Among the advanced maternal age (AMA), serum screening high risk (SSHR), serum screening intermediate risk (SSIR), and voluntary screening (VS) groups, the PPVs for the common trisomies were 81.25, 85.71, 100, and 70%, respectively; the PPVs for total chromosomal abnormalities were 55.82, 65.22, 23.08, and 36.59%, respectively. Conclusion NIPT for T21 and T18 and SCAs screening were ideal, and the PPVs for trisomy 13 (T13), RATs, and CNVs were low. For the AMA and VS groups, NIPT could be used as a first-line screening program; for SSHR and SSIR groups, NIPT could be used as a second-line supplementary screening program. |
| Databáze: | OpenAIRE |
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