ArticlePrenatal diagnosis2009
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.
Article in Prenatal diagnosis, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 1 of them a synthesis 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
42 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The Incremental Yield of CMA Over Karyotype in Fetal Growth Restriction-A Systematic Review and Meta-Analysis.Prenatal diagnosis · 2026Pooled it
- Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial.Prenatal diagnosis · 2012Trial
- Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.Human genetics · 2012Trial
- Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype.Prenatal diagnosis · 2009Trial
- Diagnostic and prognostic role of soft ultrasound markers in prenatal detection and assessment of foetal abnormalities.Przeglad menopauzalny = Menopause review · 2024Review
- The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.International journal of molecular sciences · 2023Review
- Variants of uncertain significance in prenatal microarrays: a retrospective cohort study.BJOG : an international journal of obstetrics and gynaecology · 2021Article
- Informed Decision-Making in the Context of Prenatal Chromosomal Microarray.Journal of genetic counseling · 2018Article
- Recent advances in prenatal genetic screening and testing.F1000Research · 2016Review
- A genome-wide screen for copy number alterations in an adolescent pilot cohort with müllerian anomalies.Fertility and sterility · 2015Article
- Microarrays as a diagnostic tool in prenatal screening strategies: ethical reflection.Human genetics · 2014Article
- BACs-on-Beads technology: a reliable test for rapid detection of aneuploidies and microdeletions in prenatal diagnosis.BioMed research international · 2014Article
- Prenatal diagnosis of two de novo 4q35-qter deletions characterized by array-CGH.Molecular cytogenetics · 2013Article
- Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalities.European journal of human genetics : EJHG · 2013Article
- The 'thousand-dollar genome': an ethical exploration.European journal of human genetics : EJHG · 2013Article
- A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization.Molecular cytogenetics · 2013Article
- Women's experiences receiving abnormal prenatal chromosomal microarray testing results.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Article
- An improved method to extract DNA from 1 ml of uncultured amniotic fluid from patients at less than 16 weeks' gestation.PloS one · 2013Article
- The scope of prenatal diagnosis for women at increased risk for aneuploidies: views and preferences of professionals and potential users.Journal of community genetics · 2013Article
- Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature.BioMed research international · 2013Review
Corrections and comments
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Authors and funding
16 authors.
Funding
Abstract
objectiveTo evaluate the use of array comparative genomic hybridization (aCGH) for prenatal diagnosis, including assessment of variants of uncertain significance, and the ability to detect abnormalities not detected by karyotype, and vice versa.
methodsWomen undergoing amniocentesis or chorionic villus sampling (CVS) for karyotype were offered aCGH analysis using a targeted microarray. Parental samples were obtained concurrently to exclude maternal cell contamination and determine if copy number variants (CNVs) were de novo, or inherited prior to issuing a report.
resultsWe analyzed 300 samples, most were amniotic fluid (82%) and CVS (17%). The most common indications were advanced maternal age (N=123) and abnormal ultrasound findings (N=84). We detected 58 CNVs (19.3%). Of these, 40 (13.3%) were interpreted as likely benign, 15 (5.0%) were of defined pathological significance, while 3 (1.0%) were of uncertain clinical significance. For seven (approximately 2.3% or 1/43), aCGH contributed important new information. For two of these (1% or approximately 1/150), the abnormality would not have been detected without aCGH analysis.
conclusionAlthough aCGH-detected benign inherited variants in 13.3% of cases, these did not present major counseling difficulties, and the procedure is an improved diagnostic tool for prenatal detection of chromosomal abnormalities.
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