ArticleJournal of clinical laboratory analysis2022
Combined diagnosis of QF-PCR and CNV-Seq in fetal chromosomal abnormalities: A new perspective on prenatal diagnosis.
Article in Journal of clinical laboratory analysis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 25 citations in OpenAlex.
- Prenatal diagnosis of Apert syndrome caused by a de novo FGFR2 mutation in the second trimester: a case report.BMC pregnancy and childbirth · 2026Article
- Genetic impact of copy number variations on congenital heart defects: Current insights and future directions.Global medical genetics · 2025Review
- The value of quantitative fluorescence polymerase chain reaction for the products of conception in the era of copy number variation sequencing.Frontiers in genetics · 2025Article
- Integration of molecular diagnostics and karyotyping for enhanced detection of chromosomal abnormalities in fetuses.Archives of medical science : AMS · 2025Article
- Efficiency of copy number variation sequencing combined with karyotyping in fetuses with congenital heart disease and the following outcomes.Molecular cytogenetics · 2024Article
- Article
- 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
- Confusing finding of quantitative fluorescent polymerase chain reaction analysis in invasive prenatal genetic diagnosis: A case report.World journal of clinical cases · 2023Article
- Prenatal diagnosis of hereditary diffuse gastric cancer: a case report.BMC pregnancy and childbirth · 2023Article
- Combined diagnosis of QF-PCR and CNV-Seq in fetal chromosomal abnormalities: A new perspective on prenatal diagnosis.Journal of clinical laboratory analysis · 2022Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
objectiveThis study aimed to evaluate the effect of QF-PCR and CNV-seq in diagnosing prenatal fetal chromosomal aberrations, explore the advantages and necessity of multimethod joint diagnosis.
methodsWe chose pregnant women with the indication of fetal chromosome examination in our hospital last year, collected 657 cases of amniotic fluid for QF-PCR and CNV-seq analyzes.
resultsWhile detecting aneuploidy, the coincidence rate of QF-PCR and CNV-seq was 100% (56/56). For all 46 chromosomes, 523 cases (79.60%, 523/657) coincided precisely, 128 cases (19.48%, 128/657) showed abnormality with CNV-seq, 8 cases (1.22%, 8/657) revealed abnormality by QF-PCR. In serological Down's syndrome screening, 328 cases showed a high risk of trisomy 21, of which CNV-seq and QF-PCR were consistent in 4 cases (1.22%, 4/328), CNV-seq found 87 cases of CNVs in 78 samples except for chromosomal aneuploidy abnormalities, among these, 18 cases (20.69%, 18/87) were polymorphic, 7 cases (8.05%, 7/87) might cause disease, 13 cases (14.94%, 13/87) caused disease explicitly, 21 cases (24.14%, 21/87) were possibly benign, 17 cases (19.54%, 17/87) were explicitly benign, and the classification of 11 cases (12.64%, 11/87) was unclear.
conclusionQF-PCR and CNV-seq were highly consistent in diagnosing chromosomal aneuploidy. The high risk of serological Down's screening might not only due to the aneuploidy of chromosomes 21, 18, and NTD, but also the microdeletion or microduplication of all 46 chromosomes. So using CNV-seq combined with QF-PCR could effectively reduce the risk of missed diagnosis.
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