ArticlePrenatal diagnosis2012
Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies.
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 68 papers, 3 of them syntheses that pooled it.
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Who cites it
68 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Pooled it
- An economic analysis of prenatal cytogenetic technologies for sonographically detected fetal anomalies.American journal of medical genetics. Part A · 2014Pooled it
- The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.Prenatal diagnosis · 2013Pooled it
- Diagnosed After Birth-But Detectable Before? A Cohort Study of Prenatal Testing Potential.Prenatal diagnosis · 2026Article
- Article
- Application of chromosomal microarray analysis for prenatal diagnosis in 315 ultrasonically abnormal fetuses.Frontiers in genetics · 2026Article
- Advancing fetal diagnosis and prognostication using comprehensive prenatal phenotyping and genetic testing.Pediatric research · 2025Review
- In the era of copy number variation sequencing: changes in the target population for prenatal diagnosis and what is the optimal prenatal diagnostic strategy?Frontiers in medicine · 2025Article
- Clinical application of single nucleotide polymorphism array in prenatal diagnosis: Experience with 8753 samples.PloS one · 2025Article
- Single nucleotide polymorphism array (SNP-array) analysis for fetuses with abnormal nasal bone.Archives of gynecology and obstetrics · 2024Article
- Clinical application of chromosome microarray analysis and karyotyping in prenatal diagnosis in Northwest China.Frontiers in genetics · 2024Article
- Prenatal Chromosomal Microarray Analysis: Does Increased Resolution Equal Increased Yield?Genes · 2023Article
- Using single nucleotide polymorphism array for prenatal diagnosis in a large multicenter study in Southern China.Scientific reports · 2023Article
- Resistance to Change.Reproductive sciences (Thousand Oaks, Calif.) · 2023Review
- Detection rates of abnormalities in over 10,000 amniotic fluid samples at a single laboratory.BMC pregnancy and childbirth · 2023Article
- Article
- Development of a clinical microarray system for genetic analysis screening.Practical laboratory medicine · 2023Article
- Disparities in the acceptance of chromosomal microarray at the time of prenatal genetic diagnosis.Prenatal diagnosis · 2022Article
- Article
- Molecular Approaches in Fetal Malformations, Dynamic Anomalies and Soft Markers: Diagnostic Rates and Challenges-Systematic Review of the Literature and Meta-Analysis.Diagnostics (Basel, Switzerland) · 2022Review
8 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo demonstrate the usefulness of microarray testing in prenatal diagnosis based on our laboratory experience.
methodsPrenatal samples received from 2004 to 2011 for a variety of indications (n = 5003) were tested using comparative genomic hybridization-based microarrays targeted to known chromosomal syndromes with later versions of the microarrays providing backbone coverage of the entire genome.
resultsThe overall detection rate of clinically significant copy number alterations (CNAs) among unbiased, nondemise cases was 5.3%. Detection rates were 6.5% and 8.2% for cases referred with abnormal ultrasounds and fetal demise, respectively. The overall rate of findings with unclear clinical significance was 4.2% but would reduce to 0.39% if only de novo CNAs were considered. In cases with known chromosomal rearrangements in the fetus or parent, 41.1% showed CNAs related to the rearrangements, whereas 1.3% showed clinically significant CNAs unrelated to the karyotype. Finally, 71% of the clinically significant CNAs found by microarray were below the resolution of conventional karyotyping of fetal chromosomes.
conclusionsMicroarray analysis has advantages over conventional cytogenetics, including the ability to more precisely characterize CNAs associated with abnormal karyotypes. Moreover, a significant proportion of cases studied by array will show a clinically significant CNA even with apparently normal karyotypes.
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