{"doi":"10.3389/fgene.2020.571219","title":"Clinical Utility of SNP Array Analysis in Prenatal Diagnosis: A Cohort Study of 5000 Pregnancies","abstract":null,"journal":"Frontiers in Genetics","year":2020,"id":611026,"datarank":0.5416376868966337,"base_score":3.6109179126442243,"endowment":3.6109179126442243,"self_citation_contribution":0.5416376868966337,"citation_network_contribution":0.0,"self_endowment_contribution":0.5416376868966337,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":36,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":145629,"name":"Yang Ding","orcid":null,"position":1,"is_corresponding":false},{"id":1571243,"name":"Xiaoyan Song","orcid":null,"position":2,"is_corresponding":false},{"id":1571244,"name":"Jun Mao","orcid":null,"position":3,"is_corresponding":false},{"id":1571245,"name":"Minjuan Liu","orcid":null,"position":4,"is_corresponding":false},{"id":142216,"name":"Yinghua Liu","orcid":null,"position":5,"is_corresponding":false},{"id":1408410,"name":"Chao Huang","orcid":"0000-0003-4850-2491","position":6,"is_corresponding":false},{"id":396791,"name":"Qin Zhang","orcid":"0000-0002-1023-480X","position":7,"is_corresponding":false},{"id":700425,"name":"Ting Wang","orcid":"0000-0001-9213-4687","position":8,"is_corresponding":false},{"id":158141,"name":"Jingjing Xiang","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Clinical Utility of SNP Array Analysis in Prenatal Diagnosis: A Cohort Study of 5000 Pregnancies","abstract":"BACKGROUND: Single nucleotide polymorphism array (SNP-array) has been introduced for prenatal diagnosis. We aimed to evaluate the clinical value of SNP-array in the diagnosis of fetal chromosomal anomalies. METHODS: A retrospective study was conducted on 5000 cases tested by SNP-array, and the results of 4022 cases analyzed by both karyotyping and SNP-array were compared. RESULTS: SNP-array analysis of 5000 samples revealed that the overall abnormality detection rate by SNP-array was 12.3%, and the overall detection rate of clinically significant copy number variations (CNVs) by SNP-array was 2.6%. SNP-array identified clinically significant submicroscopic CNVs in 4.5% fetuses with anomaly on ultrasonography, in 1.6% of fetuses with advanced maternal age (AMA), in 2.5% of fetuses with abnormal result on maternal serum screening, in 2.9% of fetuses with abnormal non-invasive prenatal testing (NIPT) results and in 3.0% of fetuses with other indications. Of the 4022 samples analyzed by both karyotyping and SNP-array, SNP-array could identify all the aneuploidy and triploidy detected by karyotyping but did not identify balanced structural chromosomal abnormalities and low-level mosaicism detected by karyotyping. CONCLUSION: SNP-array could additionally identify clinically significant submicroscopic CNVs, and we recommend the combination of SNP-array analysis and karyotyping in prenatal diagnosis.","is_dataset_classified":null,"base_score":3.6109179126442243,"endowment":3.6109179126442243,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"33240322","pmcid":"PMC7677511","openalex_id":"https://openalex.org/W3095544300","authors":[],"funders":[],"total_grants":0,"fwci":5.8565,"citation_percentile":0.96483892,"influential_citations":0,"citation_trend":[{"year":2021,"count":6},{"year":2022,"count":7},{"year":2023,"count":6},{"year":2024,"count":8},{"year":2025,"count":6},{"year":2026,"count":3}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://doi.org/10.3389/fgene.2020.571219","host_type":"journal"},{"url":"https://doi.org/10.3389/fgene.2020.571219","host_type":"publisher"},{"url":"https://www.frontiersin.org/articles/10.3389/fgene.2020.571219/full","host_type":"publisher"},{"url":"https://pubmed.ncbi.nlm.nih.gov/33240322","host_type":"repository"},{"url":"https://doaj.org/article/f3b43de7fdfe4c5387b21db5ae356371","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7677511","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC7677511","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC7677511?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Prenatal Screening and Diagnostics","Genomic variations and chromosomal abnormalities","Gestational Trophoblastic Disease Studies"],"mesh_terms":[],"keywords":["SNP array","SNP","Karyotype","Copy-number variation","Single-nucleotide polymorphism","Prenatal diagnosis","Products of conception","Biology","Aneuploidy","Medicine","Fetus","Genetics","Chromosome","Pregnancy","Genotype","Genome","Gestation","Chromosomal abnormality","Copy Number Variations","Snp-array","Chromosomal Microarray Analysis"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Good health and well-being"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"doi"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-01T14:35:02.510096Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}