ArticlePediatrics2008
Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.
Article in Pediatrics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers.
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Who cites it
66 citing papers in PubMed, 155 citations in OpenAlex.
- Newborn Sequencing in Genomic Medicine and Public Health.Pediatrics · 2017Trial
- Array-CGH in children with mild intellectual disability: a population-based study.European journal of pediatrics · 2015Trial
- Clinical utility of chromosomal microarray analysis in invasive prenatal diagnosis.Human genetics · 2012Trial
- A Tiered Genetic Diagnostic Approach in Newborns With Major Congenital Anomalies: Experience From a Tertiary NICU.Birth defects research · 2026Article
- Chromosomal Microarray Analysis in Critically Ill Neonates and Children: Diagnostic Yield and Clinical Utility.Life (Basel, Switzerland) · 2026Article
- Genetic testing enhances diagnosis in critically ill neonates: insights from the first Colombian cohort.Frontiers in pediatrics · 2025Article
- Diagnostic and prognostic role of soft ultrasound markers in prenatal detection and assessment of foetal abnormalities.Przeglad menopauzalny = Menopause review · 2024Review
- Article
- Detection and impact of genetic disease in a level IV neonatal intensive care unit.Journal of perinatology : official journal of the California Perinatal Association · 2022Article
- Diagnostic Yield and Economic Implications of Whole-Exome Sequencing for ASD Diagnosis in Israel.Genes · 2021Article
- A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion.The New England journal of medicine · 2021Article
- Genome-wide CNV investigation suggests a role for cadherin, Wnt, and p53 pathways in primary open-angle glaucoma.BMC genomics · 2021Article
- Neurologic Features with Pathogenic Copy Number Variants.Pediatric neurology briefs · 2020Article
- Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Insights into genetics, human biology and disease gleaned from family based genomic studies.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Review
- Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases.European journal of human genetics : EJHG · 2018Article
- Analysis of gene copy number variations in patients with congenital heart disease using multiplex ligation-dependent probe amplification.Anatolian journal of cardiology · 2018Article
- Identification of De Novo and Rare Inherited Copy Number Variants in Children with Syndromic Congenital Heart Defects.Pediatric cardiology · 2018Article
- Small de novo CNVs as biomarkers of parental exposure to low doses of ionizing radiation of caesium-137.Scientific reports · 2018Article
- Rare Copy Number Variations and Predictors in Children With Intellectual Disability and Epilepsy.Frontiers in neurology · 2018Article
6 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
15 authors at 1 institution in 1 country.
Funding
Abstract
objectivesOur aim was to determine the frequency of genomic imbalances in neonates with birth defects by using targeted array-based comparative genomic hybridization, also known as chromosomal microarray analysis.
methodsBetween March 2006 and September 2007, 638 neonates with various birth defects were referred for chromosomal microarray analysis. Three consecutive chromosomal microarray analysis versions were used: bacterial artificial chromosome-based versions V5 and V6 and bacterial artificial chromosome emulated oligonucleotide-based version V6 Oligo. Each version had targeted but increasingly extensive genomic coverage and interrogated>150 disease loci with enhanced coverage in genomic rearrangement-prone pericentromeric and subtelomeric regions.
resultsOverall, 109 (17.1%) patients were identified with clinically significant abnormalities with detection rates of 13.7%, 16.6%, and 19.9% on V5, V6, and V6 Oligo, respectively. The majority of these abnormalities would not be defined by using karyotype analysis. The clinically significant detection rates by use of chromosomal microarray analysis for various clinical indications were 66.7% for "possible chromosomal abnormality"+/-"others" (other clinical indications), 33.3% for ambiguous genitalia+/-others, 27.1% for dysmorphic features+multiple congenital anomalies+/-others, 24.6% for dysmorphic features+/-others, 21.8% for congenital heart disease+/-others, 17.9% for multiple congenital anomalies+/-others, and 9.5% for the patients referred for others that were different from the groups defined. In all, 16 (2.5%) patients had chromosomal aneuploidies, and 81 (12.7%) patients had segmental aneusomies including common microdeletion or microduplication syndromes and other genomic disorders. Chromosomal mosaicism was found in 12 (1.9%) neonates.
conclusionsChromosomal microarray analysis is a valuable clinical diagnostic tool that allows precise and rapid identification of genomic imbalances and mosaic abnormalities as the cause of birth defects in neonates. Chromosomal microarray analysis allows for timely molecular diagnoses and detects many more clinically relevant genomic abnormalities than conventional cytogenetic studies, enabling more informed decision-making and management and appropriate assessment of recurrence risk.
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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.