ArticleJournal of assisted reproduction and genetics2021
Copy number variation sequencing combined with quantitative fluorescence polymerase chain reaction in clinical application of pregnancy loss.
Article in Journal of assisted reproduction and genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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The trial behind it
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Who cites it
11 citing papers in PubMed, 23 citations in OpenAlex.
- Analysis of chromosomal aberrations in early pregnancy loss using high-throughput ligation-dependent probe amplification and single tandem repeats.Molecular cytogenetics · 2025Article
- Genetic diagnosis and prenatal diagnosis of patients with cystic kidney disease in Southwest China.BMC nephrology · 2025Article
- 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
- 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
- The chromosomal characteristics of spontaneous abortion and its potential associated copy number variants and genes.Journal of assisted reproduction and genetics · 2024Article
- Identification of chromosomal abnormalities in miscarriages by CNV-Seq.Molecular cytogenetics · 2024Article
- Experience of copy number variation sequencing applied in spontaneous abortion.BMC medical genomics · 2024Article
- Confusing finding of quantitative fluorescent polymerase chain reaction analysis in invasive prenatal genetic diagnosis: A case report.World journal of clinical cases · 2023Article
- Sequential application of copy number variation sequencing and quantitative fluorescence polymerase chain reaction in genetic analysis of miscarriage and stillbirth.Molecular genetics & genomic medicine · 2023Article
- Clinical application of single nucleotide polymorphism microarray analysis in pregnancy loss in Northwest China.Frontiers in genetics · 2023Article
- Development and validation of a novel 26-plex system for prenatal diagnosis with forensic markers.International journal of legal medicine · 2022Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
purposeIn this study, we evaluated the feasibility of the combining CNV-seq and quantitative fluorescence polymerase chain reaction (QF-PCR) for miscarriage analysis in clinical practice.
methodsOver a 35-month period, a total of 389 fetal specimens including 356 chorionic villi and 33 fetal muscle tissues were analyzed by CNV-seq and QF-PCR. Relationships between the risk factors (e.g., advanced maternal age, abnormal pregnancy history, and gestational age) and incidence of these chromosomal abnormalities were further analyzed by subgroup.
resultsClinically significant chromosomal abnormalities were identified in 58.95% cases. Aneuploidy was the most common abnormality (46.84%), followed by polyploidy (8.16%) and structural chromosome anomalies (3.95%). In sub-group analysis, significant differences were found in the total frequency of chromosomal abnormalities between the early abortion and the late abortion group, as well as in the distribution of chromosomal abnormalities between the advanced and the younger maternal age group. Meanwhile, the results of the logistic regression analysis identified a trend suggesting that the percentage of fetal chromosomal abnormalities is significantly higher in advanced maternal age, lesser gestational age, and lesser number of prior miscarriages.
conclusionOur study suggests that CNV-seq and QF-PCR are efficient and reliable technologies in the fetal chromosome analysis of miscarriages and could be used as a routine selection method for the genetic analysis of spontaneous abortion.
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