ArticleJournal of clinical laboratory analysis2019
Detection of 21q11.2-q22.11 deletions in a fetus by NIPT.
Article in Journal of clinical laboratory analysis, 2019. 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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Who cites it
4 citing papers in PubMed, 5 citations in OpenAlex.
- The accuracy and feasibility of noninvasive prenatal testing in a consecutive series of 20,626 pregnancies with different clinical characteristics.Journal of clinical laboratory analysis · 2022Article
- Inherited unbalanced reciprocal translocation with 3q duplication and 5p deletion in a foetus revealed by cell-free foetal DNA (cffDNA) testing: a case report.European journal of medical research · 2021Article
- Clinical value for the detection of fetal chromosomal deletions/duplications by noninvasive prenatal testing in clinical practice.Molecular genetics & genomic medicine · 2021Article
- Detection of 21q11.2-q22.11 deletions in a fetus by NIPT.Journal of clinical laboratory analysis · 2019Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
backgroundNon-invasive prenatal testing (NIPT) is extensively used in the detection of fetal trisomies 21, 18, and 13, which is promptly becoming a common clinical practice. Concerned about the clinical application of non-invasive detection of the fetal autosomal duplications or deletion. CASE PRESENTATION: A 34-year-old, healthy pregnant woman was referred to the First Affiliated Hospital of the Air Force Medical University. The ultrasound examination indicates that low-lying placenta, the fetus has a left ventricular bright spot and small amount of pericardial effusion. NIPT was chosen to further screen for fetal chromosomal abnormalities. NIPT results indicated an approximately 18 Mb deletion, which was verified by prenatal diagnosis. The chromosome microarray analysis (CMA) result showed about 19.2 Mb deletions in 21q11.2-q22.11. The karyotype analysis result showed 46,XN,del(21)(q11.2q22.1). Prenatal diagnosis was consistent with NIPT results, and the paternal karyotype revealed no obvious abnormalities.
conclusionIn this study, we successfully detected and diagnosed deletions of large fragments in chromosome 21 in a fetus using NIPT. This indicates that NIPT can provide effective genetic information for detecting fetal subchromosomal deletions/duplications.
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