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Ultrasound in Obstetrics & Gynecology :... Dec 2015To estimate the incremental yield of detecting copy number variants (CNVs) by genomic microarray over karyotyping in fetuses with increased nuchal translucency (NT)... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
To estimate the incremental yield of detecting copy number variants (CNVs) by genomic microarray over karyotyping in fetuses with increased nuchal translucency (NT) diagnosed by first-trimester ultrasound.
METHODS
This was a systematic review conducted in accordance with PRISMA criteria. We searched PubMed, Ovid MEDLINE and Web of Science for studies published between January 2009 and January 2015 that described CNVs in fetuses with increased NT, usually defined as ≥ 3.5 mm, and normal karyotype. Search terms included: fetal or prenatal, nuchal translucency or cystic hygroma or ultrasound anomaly, array comparative genomic hybridization or copy number variants, with related search terms. Risk differences were pooled to estimate the overall and stratified microarray incremental yield using RevMan. Quality assessment of included studies was performed using the Quality Assessment tool for Diagnostic Accuracy Studies (QUADAS-2) checklist.
RESULTS
Seventeen studies met the inclusion criteria for analysis. Meta-analysis indicated an incremental yield of 5.0% (95% CI, 2.0-8.0%) for the detection of CNVs using microarray when pooling results. Stratified analysis of microarray results demonstrated a 4.0% (95% CI, 2.0-7.0%) incremental yield in cases of isolated NT and 7.0% (95% CI, 2.0-12.0%) when other malformations were present. The most common pathogenic CNVs reported were 22q11.2 deletion, 22q11.2 duplication, 10q26.12q26.3 deletion and 12q21q22 deletion. The pooled prevalence for variants of uncertain significance was 1%.
CONCLUSION
The use of genomic microarray provides a 5.0% incremental yield of detecting CNVs in fetuses with increased NT and normal karyotype.
Topics: Abnormalities, Multiple; Chromosome Duplication; Chromosomes, Human, Pair 22; Comparative Genomic Hybridization; DNA Copy Number Variations; DiGeorge Syndrome; Female; Fetal Development; Fetal Diseases; Genomics; Humans; Karyotype; Karyotyping; Lymphangioma, Cystic; Nuchal Translucency Measurement; Pregnancy; Pregnancy Trimester, First; Tissue Array Analysis
PubMed: 25900824
DOI: 10.1002/uog.14880 -
Schizophrenia Research Dec 200922q11.2 deletion syndrome (22q11.2DS), also known as velocardiofacial syndrome (VCFS) or DiGeorge Syndrome, is a genetic disorder due to a micro deletion on chromosome... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
22q11.2 deletion syndrome (22q11.2DS), also known as velocardiofacial syndrome (VCFS) or DiGeorge Syndrome, is a genetic disorder due to a micro deletion on chromosome 22q11.2. VCFS is associated with abnormalities in brain structure and with an increased risk of psychiatric disorders, particularly schizophrenia. The aim of this review was to statistically summarize the structural imaging literature on VCFS which due to the relatively rarity of the disorder tends to consider small sample sizes.
METHOD
A systematic review and meta-analysis of region of interest (ROI) studies comparing VCFS with healthy controls was carried out. Significant heterogeneity was explored using meta-regression.
RESULTS
Subjects with VCFS were characterised by global brain volumetric reduction including several cortical regions, cerebellum and hippocampus. The area of the corpus callosum was increased.
CONCLUSIONS
Many regions extensively studied in schizophrenia were not covered in the existing VCFS literature. However, the studies considered support volumetric abnormalities which may help explain why VCFS is associated with a greatly increased risk of psychosis and other psychiatric disorders.
Topics: Adolescent; Adult; Brain; Databases, Factual; DiGeorge Syndrome; Female; Humans; Image Processing, Computer-Assisted; Magnetic Resonance Imaging; Male; Regression Analysis
PubMed: 19819113
DOI: 10.1016/j.schres.2009.09.010 -
Fortschritte Der Neurologie-Psychiatrie May 2006Microdeletion 22q11.2 (22q11DS) is the most frequent chromosomal deletion known in man. Velocardiofacial syndrome is one of numerous clinical syndromes that can be... (Review)
Review
Microdeletion 22q11.2 (22q11DS) is the most frequent chromosomal deletion known in man. Velocardiofacial syndrome is one of numerous clinical syndromes that can be attributed to this micro deletion. There is an increasing recognition of associations with neuropsychiatric disorders. Particularly, schizophrenic psychosis, attention-deficit/hyperactivity disorder (ADHD), intellectual impairment and learning disabilities, seizures and motoric abnormalities have been identified in patients with 22q11DS. Recent studies supported the association of schizophrenia and 22q11DS, but the pathogenetic implications for idiopathic schizophrenia are still controversial. We report on two clinical cases in which psychotic symptoms led to the molecularcytogenetic diagnosis of microdeletion 22q11.2. Additionally, this article gives a systematic review of literature regarding psychiatric disorders, neurologic symptoms and partly corresponding morphological brain abnormalities in 22q11 deletion syndromes.
Topics: Adult; Anti-Anxiety Agents; Ataxia; Attention Deficit Disorder with Hyperactivity; Brain; Chromosomes, Human, Pair 22; DiGeorge Syndrome; Female; Gene Deletion; Humans; Intelligence Tests; Learning Disabilities; Magnetic Resonance Imaging; Male; Mental Disorders; Nervous System Diseases; Psychiatric Status Rating Scales; Schizophrenia; Substance-Related Disorders
PubMed: 16758538
DOI: 10.1055/s-2005-915566