ArticleBJOG : an international journal of obstetrics and gynaecology2021
Variants of uncertain significance in prenatal microarrays: a retrospective cohort study.
Article in BJOG : an international journal of obstetrics and gynaecology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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
14 citing papers in PubMed.
- Prenatal SNP-array chromosomal microarray analysis in 3,549 pregnancies: indication-specific yields and clinical implications.BMC pregnancy and childbirth · 2026Article
- Rapid prenatal CNV detection using nanopore technology.BMC research notes · 2026Article
- Advancing Prenatal Diagnosis: From Conventional Karyotyping to Genome-Wide CNV Analysis.Life (Basel, Switzerland) · 2026Review
- Chromosomal Microarray: Still Relevant in NGS Era.Indian journal of pediatrics · 2026Article
- Influence of copy number variation of unknown significance on the pregnancy outcomes.Scientific reports · 2025Article
- Perinatal outcomes after a prenatal diagnosis of a fetal copy number variant: a retrospective population-based cohort study.BMC pediatrics · 2024Article
- Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array.Journal of personalized medicine · 2024Article
- Article
- Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?Genes · 2023Article
- Challenges in the clinical understanding of genetic testing in birth defects and pediatric diseases.Translational pediatrics · 2023Review
- Perinatal outcomes and genomic characteristics of fetal copy number variants: An individual record linkage study of 713 pregnancies.Prenatal diagnosis · 2023Article
- Microdeletions and microduplications linked to severe congenital disorders in infertile men.Scientific reports · 2023Article
- Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies.Prenatal diagnosis · 2022Article
- Disparities in the acceptance of chromosomal microarray at the time of prenatal genetic diagnosis.Prenatal diagnosis · 2022Article
Corrections and comments
- Commented on by
Authors and funding
6 authors.
Funding
Abstract
objectiveTo categorise the variants of uncertain significance found with prenatal chromosomal microarray and determine the proportion of such variants that are associated with a well-known phenotype in order to establish how often they remain truly of uncertain significance.
designRetrospective cohort study.
settingThe University of California, San Francisco. POPULATION: All patients with a variant of uncertain significance on prenatal microarray between 2014 and 2018.
methodsEach variant was classified as a copy number variant that (a) contains Online Mendelian Inheritance in Man (OMIM)-annotated disease-causing genes ('OMIM morbid genes'); (b) confers autosomal recessive carrier status; (c) is associated with incomplete penetrance; (d) is >1 Mb in size without OMIM morbid genes; (e) demonstrates mosaicism; or (f) contains significant regions of homozygosity. For each variant of uncertain significance, we examined the existing literature to determine whether the predicted phenotype(s) was known.
main outcome measurePrevalence and classification of variants and how much information is available regarding the likelihood of an affected phenotype.
resultsOf 970 prenatal microarrays, 55 (5.8%) had at least one variant of uncertain significance. The most common were copy number variants containing OMIM morbid genes (36.8%). In all, 48 (84.2%) were associated with a known phenotype; 55 (96.5%) had data available regarding the likelihood of an affected phenotype.
conclusionsThe prevalence of variants of uncertain significance with prenatal microarray was 5.8%. In the large majority of cases, data were available regarding the predicted phenotype. TWEETABLE ABSTRACT: Variants of uncertain significance occur in 5.8% of prenatal microarrays. In the overwhelming majority of cases, outcome information is available.
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.