ArticleBirth defects research2021
Prevalence of structural birth defects among infants with Down syndrome, 2013-2017: A US population-based study.
Article in Birth defects research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Handgrip strength measurement protocols in individuals with Down syndrome: a systematic review and meta-regression.Annals of medicine · 2025Pooled it
- Genome-wide cell type-specific and sex-specific transcriptional dysregulation in the islet of Langerhans underlies islet dysfunction in Down syndrome-related diabetes.bioRxiv : the preprint server for biology · 2026Article
- The Interplay of Morphosyntax and Verbal and Nonverbal Short-Term Memory in Children and Adolescents with Down Syndrome.Behavioral sciences (Basel, Switzerland) · 2026Article
- Congenital Heart Defect Screening Among Children with Down Syndrome in Rwanda: A Cross-Sectional Study.Pediatric health, medicine and therapeutics · 2026Article
- Impact of data sources and ascertainment methods on reporting paediatric genetic condition prevalence: A scoping review.Health information management : journal of the Health Information Management Association of Australia · 2026Article
- Structural birth defects and leukemia risk in children with Down syndrome.Scientific reports · 2025Article
- How Is Pulmonary Hypertension Characterised and Treated in Children With Trisomy 21? Observations From the TOPP Registry (Tracking Outcomes and Practice in Pediatric Pulmonary Hypertension).Pulmonary circulation · 2025Article
- Prevalence and trends of major congenital anomalies in Brazil: A study from 2011 to 2020.PloS one · 2025Article
- Retrospective analysis of non-invasive prenatal testing: a population study involving 19,835 participants in the Shaoyang area.Frontiers in genetics · 2025Article
- Factors affecting parental decisions for termination of pregnancy in the presence of a prenatal trisomy 21 diagnosis.Revista da Associacao Medica Brasileira (1992) · 2025Article
- Review
- Trisomy 21 and Congenital Heart Disease: Impact on Health and Functional Outcomes From Birth Through Adolescence: A Scientific Statement From the American Heart Association.Journal of the American Heart Association · 2024Review
- Nonchromosomal birth defects and risk of childhood acute leukemia: An assessment in 15 000 leukemia cases and 46 000 controls from the Childhood Cancer and Leukemia International Consortium.International journal of cancer · 2024Article
- National population-based estimates for major birth defects, 2016-2020.Birth defects research · 2024Article
- Combined sensory integration therapy plus neurodevelopmental therapy (NT) versus NT alone for motor and attention in children with Down syndrome: a randomized controlled trial.International journal of developmental disabilities · 2024Article
- Scientific impact of the National Birth Defects Prevention Network multistate collaborative publications.Birth defects research · 2024Review
- Epidemiology of birth defects in a national hospital-based birth defect surveillance spot in Southern Jiangsu, China, 2014-2018.Frontiers in medicine · 2023Article
- Article
- Early-onset dementia among privately-insured adults with and without congenital heart defects in the United States, 2015-2017.International journal of cardiology · 2022Article
- Co-occurrence of congenital anomalies by maternal race/ethnicity among infants and fetuses with Down syndrome, 2013-2017: A U.S. population-based analysis.Birth defects research · 2022Article
Corrections and comments
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Authors and funding
15 authors at 11 institutions in 1 country.
Funding
Abstract
backgroundDown syndrome is the most common chromosomal disorder at birth and is often accompanied by structural birth defects. Current data on major structural defects in this population are limited.
methodsStates and territorial population-based surveillance programs submitted data on identified cases of Down syndrome and identified structural birth defects during 2013-2017. We estimated prevalence by program type and maternal and infant characteristics. Among programs with active case ascertainment, we estimated the prevalence of birth defects by organ system and for specific defects by maternal age (<35, ≥35) and infant sex.
resultsWe identified 13,376 cases of Down syndrome. Prevalence among all programs was 12.7 per 10,000 live births. Among these children, 75% had at least one reported co-occurring birth defect diagnosis code. Among 6,210 cases identified by active programs, 66% had a cardiovascular defect with septal defects being the most common: atrial (32.5%), ventricular (20.6%), and atrioventricular (17.4%). Defect prevalence differed by infant sex more frequently than by maternal age. For example, atrioventricular septal defects were more common in female children (20.1% vs. 15.1%) while limb deficiencies were more prevalent in male children (0.4% vs. 0.1%).
conclusionsOur study provides updated prevalence estimates for structural defects, including rare defects, among children with Down syndrome using one of the largest and most recent cohorts to date. These data may aid clinical care and surveillance.
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