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Pediatric Cardiology Aug 2019Tetralogy of Fallot (ToF) is one of the most common cyanotic congenital heart defects. We sought to summarize all available data regarding the epidemiology and... (Meta-Analysis)
Meta-Analysis
Tetralogy of Fallot (ToF) is one of the most common cyanotic congenital heart defects. We sought to summarize all available data regarding the epidemiology and perioperative outcomes of syndromic ToF patients. A PRISMA-compliant systematic literature review of PubMed and Cochrane Library was performed. Twelve original studies were included. The incidence of syndromic ToF was 15.3% (n = 549/3597). The most prevalent genetic syndromes were 22q11.2 deletion (47.8%; 95% CI 43.4-52.2) and trisomy 21 (41.9%; 95% CI 37.7-46.3). Complete surgical repair was performed in 75.2% of the patients (n = 161/214; 95% CI 69.0-80.1) and staged repair in 24.8% (n = 53/214; 95 CI 19.4-30.9). Relief of RVOT obstruction was performed with transannular patch in 64.7% (n = 79/122; 95% CI 55.9-72.7) of the patients, pulmonary valve-sparing technique in 17.2% (n = 21/122; 95% CI 11.5-24.9), and RV-PA conduit in 18.0% (n = 22/122; 95% CI 12.1-25.9). Pleural effusions were the most common postoperative complications (n = 28/549; 5.1%; 95% CI 3.5-7.3). Reoperations were performed in 4.4% (n = 24/549; 95% CI 2.9-6.4) of the patients. All-cause mortality rate was 9.8% (n = 51/521; 95% CI 7.5-12.7). Genetic syndromes are seen in approximately 15% of ToF patients. Long-term survival exceeds 90%, suggesting that surgical management should be dictated by anatomy regardless of genetics.
Topics: Cardiac Surgical Procedures; DiGeorge Syndrome; Down Syndrome; Female; Humans; Incidence; Infant; Infant, Newborn; Male; Postoperative Complications; Pulmonary Valve; Reoperation; Retrospective Studies; Tetralogy of Fallot; Treatment Outcome
PubMed: 31214731
DOI: 10.1007/s00246-019-02133-z -
American Journal of Medical Genetics.... Oct 2018The 22q11 deletion syndrome (22q11DS) is one of the most common genomic disorders in humans, affecting around 1:2,000 to 1: 4,000 people. 22q11DS affects multiple body...
The 22q11 deletion syndrome (22q11DS) is one of the most common genomic disorders in humans, affecting around 1:2,000 to 1: 4,000 people. 22q11DS affects multiple body systems and is associated with multiple physical problems. Given the high rate of physical morbidity associated with the 22q11DS, it was hypothesized that it would exert a high psychosocial impact on patients and their relatives. To investigate this, a systematic review of the literature and narrative synthesis was performed. Three major themes emerged. First, the complex and conflicting emotions experienced by family members resulting from the diagnosis. Second, the pervasive educational and health-care challenges associated with the diagnosis and third that people affect by 22q11DS strived for individualism. The results of this review help to inform clinical management of families with 22q11DS.
Topics: Caregivers; DiGeorge Syndrome; Emotions; Family; Female; Humans; Male
PubMed: 29575505
DOI: 10.1002/ajmg.a.38673 -
American Journal of Medical Genetics.... Aug 201822q11.2 deletion syndrome (22q11.2DS) is associated with high rates of anxiety disorders, psychotic disorders, and other psychiatric conditions. In the general...
22q11.2 deletion syndrome (22q11.2DS) is associated with high rates of anxiety disorders, psychotic disorders, and other psychiatric conditions. In the general population, psychiatric disorders are treated with proven pharmacological and non-pharmacological therapies, such as cognitive behavioral therapy (CBT). To begin to assess the feasibility and efficacy of non-pharmacological therapies in 22q11.2DS, we performed a systematic search to identify literature on non-pharmacological interventions for psychiatric disorders in individuals with 22q11.2DS. Of 1,240 individual publications up to mid-2016 initially identified, 11 met inclusion criteria. There were five literature reviews, five publications reporting original research (two originating from a single study), and one publication not fitting either category that suggested adaptations to an intervention without providing scientific evidence. None of the original research involved direct study of the evidence-based non-pharmacological therapies available for psychiatric disorders. Rather, these four studies involved computer-based or group interventions aimed at improving neuropsychological deficits that may be associated with psychiatric disorders. Although the sample sizes were relatively small (maximum 28 participants in the intervention group), these reports documented the promising feasibility of these interventions, and improvements in domains of neuropsychological functioning, including working memory, attention, and social cognition. The results of this review underline the need for research into the feasibility and efficacy of non-pharmacological treatments of psychiatric disorders in individuals with 22q11.2DS to inform clinical care, using larger samples, and optimally, standard randomized, placebo-controlled, clinical trials methodology.
Topics: Adult; Arachnodactyly; Cognitive Behavioral Therapy; Craniosynostoses; DiGeorge Syndrome; Female; Humans; Male; Marfan Syndrome; Psychotic Disorders
PubMed: 29363845
DOI: 10.1002/ajmg.a.38612 -
Ultrasound in Obstetrics & Gynecology :... Apr 2016Use of recent antenatal screening guidelines for cardiac abnormalities has increased fetal diagnoses of right aortic arch (RAA). We aimed to establish the outcome of... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVES
Use of recent antenatal screening guidelines for cardiac abnormalities has increased fetal diagnoses of right aortic arch (RAA). We aimed to establish the outcome of fetal RAA without intracardiac abnormalities (ICA) to guide postnatal management.
METHODS
In the retrospective cohort part of our study, outcome measures were rates of chromosomal abnormalities, 22q11.2 deletion, fetal extracardiac abnormalities (ECA), postnatal ICA and ECA, and symptoms of and surgery for vascular ring. A systematic review and meta-analysis was also performed; results are reported as proportions. Kaplan-Meier analysis of vascular ring cases with surgery as endpoint was performed.
RESULTS
Our cohort included 86 cases; 41 had a vascular ring. Rates of chromosomal abnormalities, 22q11.2 deletion and fetal ECA were 14.1%, 6.4% and 17.4%, respectively. Sixteen studies including our cohort (312 fetuses) were included in the systematic review. Overall rates of chromosomal abnormalities and 22q11.2 deletion were 9.0% (95% CI, 6.0-12.5%) and 6.1% (95% CI, 3.6-9.3%), whilst the respective rates for cases with no ECA were 4.6% (95% CI, 2.3-7.8%) and 5.1% (95% CI, 2.4-8.6%). ECA were seen in 14.6% (95% CI, 10.6-19.0%) prenatally and in 4.0% (95% CI, 1.5-7.6%) after birth. Postnatal ICA were identified in 5.0% (95% CI, 2.7-7.9%). Rate of symptoms of vascular rings (follow-up ≥ 24 months postpartum) was 25.2% (95% CI, 16.6-35.0%), and 17.1% (95% CI, 9.9-25.7%) had surgery. Two-year freedom from surgery was 83.0% (95% CI, 74.3-90.1%).
CONCLUSIONS
Fetal RAA without ICA is more frequently associated with ECA than with chromosomal abnormalities. Most cases, however, are isolated. Vascular-ring symptoms occur in about 25% of cases. Postnatal surveillance is required mainly in the first 2 years after delivery.
Topics: Abnormalities, Multiple; Aorta, Thoracic; Aortic Arch Syndromes; Chromosome Aberrations; Cohort Studies; DiGeorge Syndrome; Female; Fetal Diseases; Fetal Heart; Heart Defects, Congenital; Humans; Kaplan-Meier Estimate; Pregnancy; Prenatal Diagnosis; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 26643657
DOI: 10.1002/uog.15805 -
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