ArticleBMC pregnancy and childbirth2021
Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis.
Article in BMC pregnancy and childbirth, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 25 citations in OpenAlex.
- Influence of copy number variation of unknown significance on the pregnancy outcomes.Scientific reports · 2025Article
- Results and indications changes by prenatal diagnosis of 3,458 pregnant women: a 10-year retrospective study.Annals of medicine · 2025Article
- The relationship between fetal tissue chromosomal karyotype and clinical characteristics in patients with spontaneous abortion: a retrospective study.BMC pregnancy and childbirth · 2025Article
- Cytogenetic Profile of Chromosomal Aberrations in Leukemia Using the Fluorescence In Situ Hybridization (FISH) Method at a Tertiary Institution in Gauteng Province.Diagnostics (Basel, Switzerland) · 2025Article
- Prenatal diagnosis and pregnancy outcomes of mosaicism detected by CMA-seq.BMC pregnancy and childbirth · 2025Article
- Analysis of Prenatal Diagnosis and Pregnancy Decisions of 767 Singleton Pregnancies With Positive Prenatal Cell-Free DNA Screening Results in Southwest China.Journal of pregnancy · 2025Article
- Analysis of copy number variants detected by sequencing in spontaneous abortion.Molecular cytogenetics · 2024Article
- Clinical application of chromosome microarray analysis and karyotyping in prenatal diagnosis in Northwest China.Frontiers in genetics · 2024Article
- Evaluation and Analysis of Absence of Homozygosity (AOH) Using Chromosome Analysis by Medium Coverage Whole Genome Sequencing (CMA-seq) in Prenatal Diagnosis.Diagnostics (Basel, Switzerland) · 2023Article
- Clinical evaluation of non-invasive prenatal screening for the detection of fetal genome-wide copy number variants.Orphanet journal of rare diseases · 2022Article
- Combined use of karyotyping and copy number variation sequencing technology in prenatal diagnosis.PeerJ · 2022Article
- Potentials and challenges of chromosomal microarray analysis in prenatal diagnosis.Frontiers in genetics · 2022Review
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWe aimed to evaluate the clinical value of copy number variation-sequencing (CNV-Seq) in combination with cytogenetic karyotyping in prenatal diagnosis.
methodsCNV-Seq and cytogenetic karyotyping were performed in parallel for 9452 prenatal samples for comparison of the diagnostic performance of the two methods, and to evaluate the screening performance of maternal age, maternal serum screening, fetal ultrasound scanning and noninvasive prenatal testing (NIPT) for fetal pathogenic copy number variation (CNV).
resultsAmong the 9452 prenatal samples, traditional karyotyping detected 704 cases (7.5%) of abnormal cytogenetic karyotypes, 171 (1.8%) chromosome polymorphism, 20 (0.2%) subtle structural variations, 74 (0.7%) mutual translocation (possibly balanced), 52 (0.6%) without karyotyping results, and 8431 (89.2%) normal cytogenetic karyotypes. Among the 8705 cases with normal karyotype, polymorphism, mutual translocation, or marker chromosome, CNV-Seq detected 63 cases (0.7%) of pathogenic chromosome microdeletion/duplication. Retrospectively, noninvasive prenatal testing (NIPT) had high sensitivity and specificity for the screening of fetal pathogenic CNV, and NIPT combining with maternal age, maternal serum screening or fetal ultrasound scanning, which improved the screening performance.
conclusionThe combined application of cytogenetic karyotyping and CNV-Seq significantly improved the detection rate of fetal pathogenic chromosome microdeletion/duplication. NIPT was recommended for the screening of pathogenic chromosome microdeletion/duplication, and NIPT combining with other screening methods further improved the screening performance for pathogenic fetal CNV.
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