ArticleIntractable & rare diseases research2021
The prevalence and patterns of chromosome abnormalities in newborns with major congenital anomalies: A retrospective study from Saudi Arabia.
Article in Intractable & rare diseases research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 19 citations in OpenAlex.
- Proportion of Chromosomal Disorders and Their Patterns among Births with Congenital Anomalies in Africa: A Systematic Review and Meta-Analyses.TheScientificWorldJournal · 2022Pooled it
- Prenatal diagnosis strategies and pregnancy outcomes in the Luohe region of China in the context of increasing maternal age.Scientific reports · 2026Article
- Prevalence of Congenital Anomalies and Its Associated Factors Among Newborns in Central Ethiopia Region Public Hospitals, Ethiopia: A Retrospective Cross-Sectional Study, 2023.Public health challenges · 2025Article
- Clinical validation of artificial intelligence-assisted karyotyping on peripheral blood in a cytogenetic diagnostic laboratory.Human genetics · 2025Review
- Association Between Physical Fitness and Quality of Life in Children and Adolescents with Down Syndrome.Children (Basel, Switzerland) · 2025Article
- Maternal Risk Factors, Patterns, and Outcomes of Antenatal Congenital Anomalies: A Hospital-Based Study.Diagnostics (Basel, Switzerland) · 2025Article
- Epidemiology of congenital anomalies in the Gulf Cooperation Council countries: a scoping review.BMJ open · 2025Article
- Public Awareness and Perceptions of Congenital Disabilities in Saudi Arabia: A Cross-Sectional Study.Risk management and healthcare policy · 2025Article
- Maternal Exposure to Per- and Polyfluoroalkyl Substances and Offspring Chromosomal Abnormalities: The Japan Environment and Children's Study.Environmental health perspectives · 2024Article
- Article
- Prevalence of Malocclusions in Down Syndrome Population: A Cross-Sectional Study.Medicina (Kaunas, Lithuania) · 2023Article
- Prevalence and Pattern of Birth Defects in Saudi Arabia: A Systematic Review of Observational Studies.Pediatric reports · 2023Review
- Detection rates of abnormalities in over 10,000 amniotic fluid samples at a single laboratory.BMC pregnancy and childbirth · 2023Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital anomalies are a worldwide health problem that places a burden on the family and society. Chromosome abnormalities are one of the leading causes for congenital anomalies in newborns. Despite the remarkable development in cytogenetic services in the past years, still there are limited data from Middle East countries. The current study aimed to evaluate the prevalence and patterns of chromosomal aberrations in newborns admitted to the neonatal intensive care unit (NICU) with major congenital anomalies at Medina province in the western region of Saudi Arabia. Out of 2,541 live births, 150 newborns were selected based on the presence of major birth defects. Demographic and clinical data were collected from hospital medical records and statistically analyzed. The prevalence of major congenital anomalies was 10.7/1,000 live births (95% CI: 9.076- 12.583). The most common congenital anomalies in descending order were congenital heart disease, musculoskeletal and chromosome abnormalities. The birth prevalence of chromosome abnormalities was 4.22/1,000 live births (95% CI: 3.211-5.441). The most common chromosome abnormality was Down syndrome-nondisjunction type (66%). Advanced parental age was strongly associated with chromosome aberrations (
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