Evidence map›Paper›PMID 36157819›Full record

ArticleWorld journal of clinical cases2022

Discrepancy between non-invasive prenatal testing result and fetal karyotype caused by rare confined placental mosaicism: A case report.

Zhen Li, Guang-Rui Lai

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in World journal of clinical cases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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3 · Its place in the literature

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1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

2 authors.

Zhen LiDepartment of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning Province, China.
Guang-Rui LaiDepartment of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang 110004, Liaoning Province, China. laiguangrui@126.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundConfined placental mosaicism (CPM) is one of the major reasons for discrepancies between the results of non-invasive prenatal testing (NIPT) and fetal karyotype analysis. CASE SUMMARY: We encountered a primiparous singleton pregnant woman with a rare CPM consisting of 47,XY,+21; 47,XXY; and 46,XY, who obtained a false-positive result on NIPT with a high risk for trisomy 21. Copy-number variation sequencing on amniotic fluid cells, fetal tissue, and placental biopsies showed that the fetal karyotype was 47,XXY, while the placenta was a rare mosaic of 47,XY,+21; 47,XXY; and 46,XY.

conclusionThe patient had a rare CPM consisting of 47,XY,+21; 47,XXY; and 46,XY, which caused a discrepancy between the result of NIPT and the actual fetal karyotype. It is important to remember that NIPT is a screening test, not a diagnostic test. Any positive result should be confirmed with invasive testing, and routine ultrasound examination is still necessary after a negative result.

Indexed as

Case reportConfined placental mosaicismCopy-number variation sequencingKaryotype analysisNon-invasive prenatal testing

Identifiers

PMID36157819
PMCPMC9453383

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