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8/16/2022 6:08:27 AM | Browse: 270 | Download: 662
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Received |
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2021-12-14 03:54 |
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Peer-Review Started |
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2021-12-14 03:54 |
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2022-05-30 00:43 |
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Revised |
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2022-06-01 08:37 |
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Second Decision |
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2022-07-14 03:02 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2022-07-17 23:15 |
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Articles in Press |
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2022-07-17 23:15 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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Typeset the Manuscript |
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2022-07-28 05:49 |
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Publish the Manuscript Online |
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2022-08-16 01:35 |
ISSN |
2307-8960 (online) |
Open Access |
This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/ |
Copyright |
©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved. |
Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
Website |
http://www.wjgnet.com |
Category |
Genetics & Heredity |
Manuscript Type |
Case Report |
Article Title |
Discrepancy between non-invasive prenatal testing result and fetal karyotype caused by rare confined placental mosaicism: A case report
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Manuscript Source |
Unsolicited Manuscript |
All Author List |
Zhen Li and Guang-Rui Lai |
Funding Agency and Grant Number |
Funding Agency |
Grant Number |
345 Talent Project of Shengjing Hospital |
M0298 |
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Corresponding Author |
Guang-Rui Lai, MD, PhD, Assistant Professor, Department of Clinical Genetics, Shengjing Hospital of China Medical University, No. 36 Sanhao Street, Shenyang 110004, Liaoning Province, China. laiguangrui@126.com |
Key Words |
Non-invasive prenatal testing; Confined placental mosaicism; Copy-number variation sequencing; Karyotype analysis; Case report |
Core Tip |
We identified that the patient had a rare confined placental mosaicism consisting of 47,XY,+21; 47,XXY; and 46,XY, which caused a discrepancy between non-invasive prenatal testing (NIPT) and fetal karyotype. Although NIPT has high sensitivity and specificity, false negatives and false positives are still possible. It is important to remember that NIPT is just a screening test, and any positive results need to be confirmed with invasive testing. Patients with negative NIPT results still require follow-up ultrasound examination. |
Publish Date |
2022-08-16 01:35 |
Citation |
Li Z, Lai GR. Discrepancy between non-invasive prenatal testing result and fetal karyotype caused by rare confined placental mosaicism: A case report. World J Clin Cases 2022; 10(24): 8641-8647 |
URL |
https://www.wjgnet.com/2307-8960/full/v10/i24/8641.htm |
DOI |
https://dx.doi.org/10.12998/wjcc.v10.i24.8641 |
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