ArticlePrenatal diagnosis2012
Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound.
Article in Prenatal diagnosis, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 96 papers, 3 of them syntheses that pooled it.
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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.
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Who cites it
96 citing papers in PubMed, 3 syntheses or guidelines pooled it, 268 citations in OpenAlex.
- The incremental yield of CMA over karyotype in fetal ventriculomegaly: a systematic review and meta-analysis.Archives of gynecology and obstetrics · 2026Pooled it
- The Incremental Yield of CMA Over Karyotype in Fetal Growth Restriction-A Systematic Review and Meta-Analysis.Prenatal diagnosis · 2026Pooled it
- Chromosomal microarray analysis vs. karyotyping for fetal ventriculomegaly: a meta-analysis.Chinese medical journal · 2021Pooled it
- Chromosome microarray analysis in the investigation of children with congenital heart disease.BMC pediatrics · 2017Trial
- Association of copy number variants with specific ultrasonographically detected fetal anomalies.Obstetrics and gynecology · 2014Trial
- Expanding prenatal diagnosis: clinical utility of prenatal whole-exome sequencing in a Romanian case series with fetal anomalies.Journal of medicine and life · 2026Article
- Diagnostic yield of chromosomal microarray analysis and exome sequencing in fetuses with central nervous system anomalies, with long-term follow-up: a single-center study over a 17-year period.Archives of gynecology and obstetrics · 2026Article
- Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions.Clinical genetics · 2026Article
- Posterior Fossa Malformations in a Cohort of 116 Fetuses: A Retrospective Analysis of Imaging Characteristics, Postnatal Imaging Concordance, Pregnancy Outcomes and Yield of Genetic Testing.Cerebellum (London, England) · 2026Article
- Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare.Prenatal diagnosis · 2026Article
- Array Comparative Genomic Hybridization Analysis of Products of Conception in Recurrent Pregnancy Loss for specific anomalies detected by USG.Reproduction & fertility · 2026Article
- Comparative Diagnostic Assessment of Karyotyping, Microarray, and Whole Exome Sequencing in Genetically Associated Fetal Growth Restriction.Diagnostics (Basel, Switzerland) · 2026Article
- Phenotypic spectrum and molecular characteristics of variants of uncertain significance in copy number variations associated with fetal cardiac malformations: a case series of 9 patients.Frontiers in pediatrics · 2026Article
- Concordance between genome-wide cfDNA screening and diagnostic test results for large copy-number variants: a multi-site study from the Global Expanded NIPT Consortium.Frontiers in genetics · 2026Article
- Application of chromosomal microarray analysis for prenatal diagnosis in 315 ultrasonically abnormal fetuses.Frontiers in genetics · 2026Article
- Genetic disorders and associated morbidity, mortality, and congenital anomalies in preterm infants born at less than 34 weeks of gestation.BMC pediatrics · 2025Observational
- Prenatal diagnostic value of medium-coverage WGS and clinical Exome sequencing in fetal congenital heart disease.Future science OA · 2025Article
- Residual Risks of Fetal Chromosome Aberrations When Cell-Free DNA Prenatal Screening Is Normal: A Retrospective Study.Prenatal diagnosis · 2025Article
- Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study.Orphanet journal of rare diseases · 2025Article
- Comparison of conventional karyotype analysis and CMA results with ultrasound findings in pregnancies with normal QF-PCR results.Turkish journal of obstetrics and gynecology · 2025Article
36 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveThe aim of this study is to understand the diagnostic utility of comparative genomic hybridization (CGH)-based microarrays for pregnancies with abnormal ultrasound findings.
methodsWe performed a retrospective analysis of 2858 pregnancies with abnormal ultrasounds and normal karyotypes (when performed) tested in our laboratory using CGH microarrays targeted to known chromosomal syndromes with later versions providing backbone coverage of the entire genome. Abnormalities were stratified according to organ system involvement. Detection rates for clinically significant findings among these categories were calculated.
resultsClinically significant genomic alterations were identified in cases with a single ultrasound anomaly (n = 99/1773, 5.6%), anomalies in two or more organ systems (n = 77/808, 9.5%), isolated growth abnormalities (n = 2/76, 2.6%), and soft markers (n = 2/77, 2.6%). The following anomalies in isolation or with additional anomalies had particularly high detection rates: holoprosencephaly (n = 9/85, 10.6%), posterior fossa defects (n = 21/144, 14.6%), skeletal anomalies (n = 15/140, 10.7%), ventricular septal defect (n = 14/132, 10.6%), hypoplastic left heart (n = 11/68, 16.2%), and cleft lip/palate (n = 14/136, 10.3%).
conclusionsMicroarray analysis identified clinically significant genomic alterations in 6.5% of cases with one or more abnormal ultrasound findings; the majority were below the resolution of karyotyping. Larger data sets such as this allow for sub-stratification by specific anomalies to determine risks for genomic alterations detectable by microarray analysis.
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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.