ArticleFrontiers in genetics2020
Clinical Utility of SNP Array Analysis in Prenatal Diagnosis: A Cohort Study of 5000 Pregnancies.
Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 35 citations in OpenAlex.
- Prenatal SNP-array chromosomal microarray analysis in 3,549 pregnancies: indication-specific yields and clinical implications.BMC pregnancy and childbirth · 2026Article
- High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics.Clinical genetics · 2026Article
- Advancing Prenatal Diagnosis: From Conventional Karyotyping to Genome-Wide CNV Analysis.Life (Basel, Switzerland) · 2026Review
- Article
- Prenatal Evaluation of Genetic Abnormalities in Fetuses With Single Umbilical Artery: A Retrospective Cohort Study.Genetics research · 2026Article
- Application of Chromosomal Karyotype Analysis Combined With Chromosomal Microarray Analysis in the Amniotic Fluid of Advanced Maternal Age.Journal of clinical laboratory analysis · 2025Article
- Intrauterine phenotype, genetic analysis, and pregnancy follow-up of fetuses with the 16p12.2 microdeletion.Frontiers in genetics · 2025Article
- Clinical application of single nucleotide polymorphism array in prenatal diagnosis: Experience with 8753 samples.PloS one · 2025Article
- Automatic Single-Cell Harvesting for Fetal Nucleated Red Blood Cell Isolation on a Self-Assemble Cell Array (SACA) Chip.Micromachines · 2024Article
- Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.The Australian & New Zealand journal of obstetrics & gynaecology · 2024Article
- Chromosomal abnormalities detected by chromosomal microarray analysis and pregnancy outcomes of 4211 fetuses with high-risk prenatal indications.Scientific reports · 2024Article
- Single nucleotide polymorphism array (SNP-array) analysis for fetuses with abnormal nasal bone.Archives of gynecology and obstetrics · 2024Article
- Diagnostic and prognostic role of soft ultrasound markers in prenatal detection and assessment of foetal abnormalities.Przeglad menopauzalny = Menopause review · 2024Review
- Clinical Experience of Prenatal Chromosomal Microarray Analysis in 6159 Ultrasonically Abnormal Fetuses.Reproductive sciences (Thousand Oaks, Calif.) · 2024Article
- Intrauterine phenotype features of fetuses with 7q11.23 microduplication syndrome.Orphanet journal of rare diseases · 2023Article
- Challenging diagnoses of tetraploidy/diploidy and trisomy 12: utility of first-tier prenatal testing methods.Frontiers in genetics · 2023Article
- Prenatal phenotype features and genetic etiology of the Williams-Beuren syndrome and literature review.Frontiers in pediatrics · 2023Article
- Genetics in prenatal diagnosis.Singapore medical journal · 2023Review
- Efficiency of expanded noninvasive prenatal testing in the detection of fetal subchromosomal microdeletion and microduplication in a cohort of 31,256 single pregnancies.Scientific reports · 2022Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSingle 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.
methodsA 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.
resultsSNP-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.
conclusionSNP-array could additionally identify clinically significant submicroscopic CNVs, and we recommend the combination of SNP-array analysis and karyotyping in prenatal diagnosis.
Indexed as
Identifiers
What OpenQuestion holds
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.