ArticleJournal of medical genetics2005
Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.
Article in Journal of medical genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 2 of them syntheses that pooled it.
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Who cites it
39 citing papers in PubMed, 2 syntheses or guidelines pooled it, 261 citations in OpenAlex.
- 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
- Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype.Prenatal diagnosis · 2009Trial
- Genomic aspects in reproductive medicine.Clinical and experimental reproductive medicine · 2024Article
- Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications.Frontiers in endocrinology · 2024Review
- Noninvasive prenatal diagnosis targeting fetal nucleated red blood cells.Journal of nanobiotechnology · 2022Review
- Cardiovascular Anomalies among 1005 Fetuses Referred to Invasive Prenatal Testing-A Comprehensive Cohort Study of Associated Chromosomal Aberrations.International journal of environmental research and public health · 2022Article
- Prenatal diagnosis of 913 fetuses samples using copy number variation sequencing.The journal of gene medicine · 2021Article
- Review
- Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case.Global medical genetics · 2020Article
- Analysis of copy number variation by sequencing in fetuses with nuchal translucency thickening.Journal of clinical laboratory analysis · 2020Article
- Defining the Critical Region for Intellectual Disability and Brain Malformations in 6q27 Microdeletions.Molecular syndromology · 2019Article
- The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy.Molecular genetics & genomic medicine · 2019Article
- Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study.European journal of human genetics : EJHG · 2018Article
- Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature.Journal of pediatric genetics · 2017Article
- Novel Hypomorphic Mutation in FANCD2 Gene Observed in a Fetus with Multiple Congenital Anomalies.Case reports in obstetrics and gynecology · 2016Article
- Microarrays as a diagnostic tool in prenatal screening strategies: ethical reflection.Human genetics · 2014Article
- Best diagnostic approach for the genetic evaluation of fetuses after intrauterine death in first, second or third trimester: QF-PCR, karyotyping and/or genome wide SNP array analysis.Molecular cytogenetics · 2014Article
- 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
- 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
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMalformations are a major cause of morbidity and mortality in full term infants and genomic imbalances are a significant component of their aetiology. However, the causes of defects in many patients with multiple congenital malformations remain unexplained despite thorough clinical examination and laboratory investigations.
methodsWe used a commercially available array based comparative genomic hybridisation method (array CGH), able to screen all subtelomeric regions, main microdeletion syndromes, and 201 other regions covering the genome, to detect submicroscopic chromosomal imbalances in 49 fetuses with three or more significant anomalies and normal karyotype.
resultsArray CGH identified eight genomic rearrangements (16.3%), all confirmed by quantitative multiplex PCR of short fluorescent fragments. Subtelomeric and interstitial deletions, submicroscopic duplications, and a complex genomic imbalance were identified. In four de novo cases (15qtel deletion, 16q23.1-q23.3 deletion, 22q11.2 deletion, and mosaicism for a rearranged chromosome 18), the genomic imbalance identified clearly underlay the pathological phenotype. In one case, the relationship between the genotype and phenotype was unclear, since a subtelomeric 6q deletion was detected in a mother and her two fetuses bearing multiple malformations. In three cases, a subtelomeric 10q duplication, probably a genomic polymorphism, was identified.
conclusionsThe detection of 5/49 causative chromosomal imbalances (or 4/49 if the 6qtel deletion is not considered as causative) suggests wide genome screening when standard chromosome analysis is normal and confirms that array CGH will have a major impact on pre and postnatal diagnosis as well as providing information for more accurate genetic counselling.
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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.