ArticleBMC medical genomics2020
A rare Down syndrome foetus with de novo 21q;21q rearrangements causing false negative results in non-invasive prenatal testing: a case report.
Article in BMC medical genomics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 7 citations in OpenAlex.
- A rareArchive of clinical cases · 2026Article
- Abnormal Ultrasonography Overcomes NIPT's Inherent Limitations: Revealing Two Cases of NIPT False Negatives Caused by Trisomy 21 Mosaicism and a Literature Review.International journal of women's health · 2026Article
- Comprehensive Cytogenetic Analysis Reveals Mosaicism in Newborn with Negative Prenatal Down Syndrome Screening: A Case Report.The American journal of case reports · 2025Article
- Two cases of placental trisomy 21 mosaicism causing false-negative NIPT results.Molecular cytogenetics · 2023Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
backgroundNon-invasive prenatal testing (NIPT) has been established as a routine prenatal screening to assess the risk of common foetal aneuploidy disorder (trisomy 21, 18, and 13). NIPT has high sensitivity and high specificity, but false positive and false negative results still exist. False negative NIPT results involving Down syndrome are rare, but have a high clinical impact on families and society. CASE PRESENTATION: We described a case of a foetus that tested "negative" for trisomy 21 (Z-score was 0.664) by NIPT based on the semiconductor sequencing platform (SSP). The foetal fraction of cell-free DNA was 16.9%; this percentage was much larger than the threshold of 4% for obtaining accurate NIPT results. However, postnatally, the newborn was diagnosed with Down syndrome with the 46,XY,der(21;21)(q10;q10),+ 21 karyotype.
conclusionsWe presented a case of false negative NIPT results, which may occur through biological mechanisms rather than poor quality, technical errors or negligence. It is imperative for clinical geneticists and their patients to understand that NIPT is still a screening test.
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