ArticlePeerJ2022
Combined use of karyotyping and copy number variation sequencing technology in prenatal diagnosis.
Article in PeerJ, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 11 citations in OpenAlex.
- Prenatal diagnosis and molecular cytogenetic analysis of Xp22.31 microdeletions and microduplications in Chinese populations.BMC pregnancy and childbirth · 2026Article
- Advancing Prenatal Diagnosis: From Conventional Karyotyping to Genome-Wide CNV Analysis.Life (Basel, Switzerland) · 2026Review
- Copy number variants in fetuses with non-structural ultrasound abnormalities among pregnant women without adverse pregnancy history.Frontiers in genetics · 2026Article
- Results and indications changes by prenatal diagnosis of 3,458 pregnant women: a 10-year retrospective study.Annals of medicine · 2025Article
- A simple nomogram tool for predicting fetal chromosomal abnormalities based on ultrasound soft markers: a research note.BMC research notes · 2025Article
- Genomic medicine and personalized treatment: a narrative review.Annals of medicine and surgery (2012) · 2025Review
- Copy number variants in fetuses with isolated and non-isolated increased nuchal translucency detected by chromosomal microarray analysis.Frontiers in genetics · 2025Article
- In the era of copy number variation sequencing: changes in the target population for prenatal diagnosis and what is the optimal prenatal diagnostic strategy?Frontiers in medicine · 2025Article
- Improving prenatal diagnosis with combined karyotyping, CNV-seq and QF-PCR: a comprehensive analysis of chromosomal abnormalities in high-risk pregnancies.Frontiers in genetics · 2024Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Karyotyping and genome copy number variation sequencing (CNV-seq) are two techniques frequently used in prenatal diagnosis. This study aimed to explore the diagnostic potential of using a combination of these two methods in order to provide a more accurate clinical basis for prenatal diagnosis. Methods: We selected 822 pregnant women undergoing amniocentesis and separated them into six groups according to different risk indicators. Karyotyping and CNV-seq were performed simultaneously to compare the diagnostic performance of the two methods. Results: Among the different amniocentesis indicators, abnormal fetal ultrasounds accounted for 39.29% of the total number of examinees and made up the largest group. The abnormal detection rate of non-invasive prenatal testing (NIPT) high risk was 37.93% and significantly higher than the other five groups ( Conclusion: The combination of using CNV-seq and karyotyping significantly improved the detection rate of fetal pathogenic chromosomal abnormalities. CNV-seq is an effective complement to karyotyping and improves the accuracy of prenatal diagnosis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.