ArticleHuman genomics2019
The significance of trisomy 7 mosaicism in noninvasive prenatal screening.
Article in Human genomics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 22 citations in OpenAlex.
- Prenatal Cell-Free DNA Screening With Fetal Enrichment Enables Sampling From 8 Weeks of Gestational Age.Clinical genetics · 2026Article
- Chromosomal instability in human trophoblast stem cells and placentas.Nature communications · 2025Article
- Prenatal diagnosis of imprinted associated chromosome abnormalities identified by noninvasive prenatal testing (NIPT).Scientific reports · 2025Article
- The value of increasing sequencing depth for noninvasive prenatal screening for whole chromosomal aneuploidy.Scientific reports · 2025Article
- Prenatal diagnosis of a trisomy 7 mosaic case: CMA, CNV-seq, karyotyping, interphase FISH, and MS-MLPA, which technique to choose?BMC pregnancy and childbirth · 2024Article
- Clinical manifestations and the prenatal diagnosis of trisomy 7 mosaicism: Two case reports.World journal of clinical cases · 2024Article
- Efficiency of Non-Invasive Prenatal Testing in Detecting Fetal Copy Number Variation: A Retrospective Cohort Study.International journal of women's health · 2024Article
- Performance of noninvasive prenatal testing for twin pregnancies in South China.Journal of assisted reproduction and genetics · 2023Article
- Combined fetal fraction to analyze the Z-score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18, and 21.Journal of assisted reproduction and genetics · 2023Article
- Genome-Wide Cell-Free DNA Test for Fetal Chromosomal Abnormalities and Variants: Unrestricted Versus Restricted Reporting.Diagnostics (Basel, Switzerland) · 2022Article
- Expanding the application of non-invasive prenatal testing in the detection of foetal chromosomal copy number variations.BMC medical genomics · 2021Article
- Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review.Genes · 2020Review
- Potential influence of parental copy number variations on noninvasive prenatal testing (NIPT): two case reports.Molecular cytogenetics · 2020Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
backgroundThis study was an evaluation of the role of noninvasive prenatal testing (NIPT) in the detection of trisomy 7 in prenatal diagnosis.
methodA total of 35 consecutive cases underwent screening for trisomies by cell-free DNA testing between April 2015 and November 2017 due to suspicious NIPT results; these cases represented 0.11% of patients (35/31,250) with similar frequencies of abnormal results among the laboratories performing the tests. NIPT was offered to further screen for common fetal chromosomal abnormalities. Karyotype analysis, chromosomal microarray analysis (CMA), and next-generation sequencing (NGS) were used to detect 20, 14, and 25 patients, respectively, who accepted confirmatory diagnostic testing.
resultsHigh-risk results by NIPT were recorded for trisomy 7 alone in 29 women: dual aneuploidy in 4 patients and multiple aneuploidy in 2 patients. Karyotype analysis of amniotic fluid cells was normal in all 20 pregnancies, suggesting a probability of confined placental mosaicism. Further CMA data were obtained in 14 of the cases mentioned above, and 2 fetuses were detected with positive results with copy number variation. The NGS results suggested that all these samples were placental chimerisms of chromosome 7, except for one sample that was found to be an additional chimerism of chromosome 2, which was also consistent with the NIPT result.
conclusionOur results may be useful for the counseling of pregnant women in the detection of trisomy 7 by NIPT.
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