Congenital Anomalies at Birth: A Hospital Based Study in UAE

Aryasinghe, L; Moezzi, D; T, Ansari; Bahar, Zühal; Sharbatti, SA; Shaikh, RB

doi:10.3126/jnps.v32i2.5995

Cited by 7 publications

(5 citation statements)

References 13 publications

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“…In the present study, the most common malformations were observed in the genitourinary system (24.2%), followed by the musculoskeletal system (21.2%) and cardiovascular system (18.2%). A similar study by Arya Singhe L, et al 13 showed that the most common congenital malformation involved the genitourinary system, followed by the musculoskeletal system. Likewise, a study by Malla BK 5 showed that the most common system involved in congenital malformations were central nervous system, followed by musculoskeletal, gastrointestinal, genitourinary, and sense organ system.…”

Section: Discussionmentioning

confidence: 68%

Prevalence of Congenital Malformations among Babies Delivered at a Tertiary Care Hospital

Shrestha

2020

J Nepal Med Assoc

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Introduction: Congenital malformations have emerged as a major cause of stillbirths and neonatalmortality. It is a common cause of morbidity and mortality not only in the newborn but also in childhoodand beyond. The objective of this study was to find the prevalence of congenital malformation at birth. Methods: The descriptive cross-sectional study was conducted among 2456 live births in KathmanduMedical College and Teaching Hospital from April 2017 to March 2018 after obtaining ethicalapproval from the institutional review committee (Ref no. 08052017). A convenient sampling methodwas applied. All the live-born babies delivered in this hospital during the study period were clinicallyexamined for the presence of congenital anomalies. All malformations were classified accordingto the International Classification of Diseases-10 classification. The mothers of the newborns withcongenital malformations were interviewed in a predesigned proforma. Statistical analysis was doneusing statistical package for the social sciences version 20. Results: Out of 2456 examined live births, congenital malformations were observed in 66 cases.The prevalence of congenital malformation was 66 (2.6%) at 95% confidence interval (4.19-1.98) oftotal live births. The genitourinary system was the most common system involved with congenitalmalformations being 16 (24.2%), followed by musculoskeletal system 14 (21.2%), and cardiovascularsystem 12 (18.2%). Conclusions: Congenital malformation plays a major role in the mortality and morbidity of neonatesas well as children. The genitourinary system was the most common system involved.

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Section: Discussionmentioning

confidence: 68%

Prevalence of Congenital Malformations among Babies Delivered at a Tertiary Care Hospital

Shrestha

2020

J Nepal Med Assoc

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“…In the studies conducted in maternity hospital and western Regional hospital, Pokhara, malformations among the male live births was slightly higher than the female live births. In the study of Swain 11 reported higher incidence rate of 1.2% in his study in India, as higher as in Egypt 4 2.5%, New York 10 5.1% and in Abu Dhabi 12 6.9% were also reported.…”

Section: Discussionmentioning

confidence: 81%

Incidence of Congenital Fetal Malformation Abnormalities in Tribhuban University, Teaching Hospital, Kathmandu, Nepal: a Hospital Based Study

Bajracharya

Rajbhandari²,

Gurung³

et al. 2021

Europasian J Med Sci.

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Background : Birth defects are defined as abnormalities of structure or function, which are present at birth. Major birth defects are abnormalities that lead to developmental or physical disabilities or require medical or surgical treatment and they're the leading cause of death in the first year of life. The objective of this study is to find the incidence of congenital abnormalities in this institution. Methods: This was a prospective study conducted in Institute of Medicine, Maharajgunj Medical Campus, Tribhuwan University Teaching Hospital from 14th April 2015 to 11th Feb ,2016 . All the delivered babies in this hospital during the study period were included. All the birth cases of gross congenital fetal malformation were identified and carefully studied and were classified according to the International Classification of diseases (ICD-10). Results: Total number of congenital fetal malformation abnormalities (CMF) delivered during this period was 94 (1.13%) in total 8300 birth /7868 live birth. CMF were categorized as, Musculoskeletal - 25.55%, CNS - 17.02%, Gastrointestinal -13.33%, Renal 14.25%, Cardiac -10.63%, Respiratory -10.6%, craniofacial - 9.57%, Genitouriary - 8.51%, and Miscellaneous - 9.57%. Conclusion: Birth abnormalities incompatible to life needs to be timely diagnosed and terminated, whereas as those compatible to life should be given a chance to be born and cared thereafter. All the mothers who have, had previous malformed babies must undergo preconceptional counseling, before planning next pregnancy in order to avoid recurrent mishap.

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“…The 2006 March of Dimes report ranks the UAE 6th in the world in terms of prevalence of genetic and partially genetic birth defects ( Christianson et al, 2006 ). Hospital based studies reported that 0.31% of live births had neonatally lethal anomalies while 6.9% had congenital anomalies ( Dawodu et al, 2005 ; Aryasinghe et al, 2012 ). These high rates are largely due to the tribal nature of Emirati culture with an elevated consanguinity rate (50%) and the presence of isolated populations with increased levels of inbreeding.…”

Section: Introductionmentioning

confidence: 99%

Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database

et al. 2023

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Like many other Arab countries, the United Arab Emirates (UAE) has a relatively high prevalence of genetic disorders. Here we present the first review and analysis of all genetic disorders and gene variants reported in Emirati nationals and hosted on the Catalogue for Transmission Genetics in Arabs (CTGA), an open-access database hosting bibliographic data on human gene variants associated with inherited or heritable phenotypes in Arabs. To date, CTGA hosts 665 distinct genetic conditions that have been described in Emiratis, 621 of which follow a clear Mendelian inheritance. Strikingly, over half of these are extremely rare according to global prevalence rates, predominantly with an autosomal recessive mode of inheritance. This is likely due to the relatively high consanguinity rates within the Emirati population. The 665 conditions include disorders that are unique to the Emirati population, as well as clearly monogenic disorders that have not yet been mapped to a causal genetic locus. We also describe 1,365 gene variants reported in Emiratis, most of which are substitutions and over half are classified as likely pathogenic or pathogenic. Of these, 235 had not been reported on the international databases dbSNP and Clinvar, as of December 2022. Further analysis of this Emirati variant dataset allows a comparison of clinical significance as reported by Clinvar and CTGA, where the latter is derived from the study cited. A total of 307 pathogenic/likely pathogenic variants from CTGA’s Emirati dataset, were classified as benign, variants of uncertain significance, or were missing a clinical significance or had not been reported by Clinvar. In conclusion, we present here the spectrum of genetic disorders and gene variants reported in Emiratis. This review emphasizes the importance of ethnic databases such as CTGA in addressing the underrepresentation of Arab variant data in international databases and documenting population-specific discrepancies in variant interpretation, reiterating the value of such repositories for clinicians and researchers, especially when dealing with rare disorders.

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Congenital Anomalies at Birth: A Hospital Based Study in UAE

Cited by 7 publications

References 13 publications

Prevalence of Congenital Malformations among Babies Delivered at a Tertiary Care Hospital

Prevalence of Congenital Malformations among Babies Delivered at a Tertiary Care Hospital

Incidence of Congenital Fetal Malformation Abnormalities in Tribhuban University, Teaching Hospital, Kathmandu, Nepal: a Hospital Based Study

Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database

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