Prevalence of clinically-evident congenital anomalies in the Western highlands of Guatemala

Abstract Background Congenital anomalies are a significant cause of death and disability for infants, especially in low and middle-income countries (LMIC), where 95% of all deaths due to anomalies occur. Limited data on the prevalence and survival of infants with congenital anomalies are available from Central America. Estimates have indicated that 53 of every 10,000 live births in Guatemala are associated with a congenital anomaly. We aim to report on the incidence and survival of infants with congenital anomalies from a population-based registry and classify the anomalies according to the International Classification of Disease, Tenth Revision (ICD-10). Methods We conducted a planned secondary analysis of data from the Maternal Newborn Health Registry (MNHR), a prospective, population-based study carried out by the Global Network for Women’s and Children’s Health Research in seven research sites. We included all deliveries between 2014 and 2018 in urban and rural settings in Chimaltenango, in the Western Highlands of Guatemala. These cases of clinically evident anomalies were reported by field staff and reviewed by medically trained staff, who classified them according to ICD – 10 categories. The incidence of congenital anomalies and associated stillbirth, neonatal mortality, and survival rates were determined for up to 42 days. Results Out of 60,142 births, 384 infants were found to have a clinically evident congenital anomaly (63.8 per 10,000 births). The most common were anomalies of the nervous system (28.8 per 10,000), malformations and deformations of the musculoskeletal system (10.8 per 10,000), and cleft lip and palate (10.0 per 10,000). Infants born with nervous system anomalies had the highest stillbirth and neonatal mortality rates (14.6 and 9.0 per 10,000, respectively). Conclusions This is the first population-based report on congenital anomalies in Guatemala. The rates we found of overall anomalies are higher than previously reported estimates. These data will be useful to increase the focus on congenital anomalies and hopefully increase the use of interventions of proven benefit. Trial registration ClinalTrial.gov ID: NCT01073475.

Download Full-text

Association of other congenital anomalies in children with cleft lip and palate: a prospective hospital based observational study

International Journal of Contemporary Pediatrics ◽

10.18203/2349-3291.ijcp20191072 ◽

2019 ◽

Vol 6 (3) ◽

pp. 1059

Author(s):

Padmasani Venkat Ramanan ◽

Rajesh Balan ◽

Jyotsna Murthy ◽

Syed Altaf Hussain

Keyword(s):

Congenital Anomaly ◽

Congenital Anomalies ◽

Congenital Malformations ◽

Congenital Heart ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Associated Anomalies ◽

Live Births ◽

Associated Malformations ◽

Syndrome Association

Background: Cleft lip and palate is a common congenital anomaly affecting approximately 1 in 700 live births in south Asia. It is often associated with syndromes and other malformations but the exact incidence of these in Asians is not known. The present study was carried out to determine the association of other congenital anomalies in children with cleft.Methods: The study was carried out in the patients attending the Cleft centre of our Hospital. They were examined for other major external congenital malformations and syndrome association. Where ever relevant, appropriate investigations were done.Results: Of the total of 2367 children examined, 262 (11.06%) had congenital malformations. Among the non-syndromic children, 9% had associated malformations. The commonest was congenital heart disease (1.4%) following by genitourinary and skeletal anomalies. The highest number of anomalies was seen in patients with cleft palate alone (24.89%). 1.4% patients had identifiable syndromes.Conclusions: The study emphasizes the need for a thorough examination of all children with cleft. The overall lower incidence of syndromic clefts and associated anomalies in present study suggests that other etiological factors may be involved in our country.

Download Full-text

Case–Parent Trio Studies in Cleft Lip and Palate

Global Medical Genetics ◽

10.1055/s-0040-1722097 ◽

2020 ◽

Vol 07 (03) ◽

pp. 075-079

Author(s):

Mahamad Irfanulla Khan ◽

Prashanth CS

Keyword(s):

Genetic Variants ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Association Studies ◽

Geographical Location ◽

Genetic Association Studies ◽

Population Based ◽

Genome Wide Association Studies ◽

Family Based ◽

Study Designs

AbstractCleft lip with or without cleft palate (CL/P) is one of the most common congenital malformations in humans involving various genetic and environmental risk factors. The prevalence of CL/P varies according to geographical location, ethnicity, race, gender, and socioeconomic status, affecting approximately 1 in 800 live births worldwide. Genetic studies aim to understand the mechanisms contributory to a phenotype by measuring the association between genetic variants and also between genetic variants and phenotype population. Genome-wide association studies are standard tools used to discover genetic loci related to a trait of interest. Genetic association studies are generally divided into two main design types: population-based studies and family-based studies. The epidemiological population-based studies comprise unrelated individuals that directly compare the frequency of genetic variants between (usually independent) cases and controls. The alternative to population-based studies (case–control designs) includes various family-based study designs that comprise related individuals. An example of such a study is a case–parent trio design study, which is commonly employed in genetics to identify the variants underlying complex human disease where transmission of alleles from parents to offspring is studied. This article describes the fundamentals of case–parent trio study, trio design and its significances, statistical methods, and limitations of the trio studies.

Download Full-text

A Nationwide Registry-Based Study on Mortality Due to Rare Congenital Anomalies

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph15081715 ◽

2018 ◽

Vol 15 (8) ◽

pp. 1715 ◽

Cited By ~ 3

Author(s):

Verónica Alonso-Ferreira ◽

Germán Sánchez-Díaz ◽

Ana Villaverde-Hueso ◽

Manuel Posada de la Paz ◽

Eva Bermejo-Sánchez

Keyword(s):

Congenital Anomalies ◽

Time Trends ◽

Mortality Rates ◽

Population Based ◽

Geographical Differences ◽

Disease Epidemiology ◽

Risk Of Death ◽

Health Authorities ◽

Icd 10 ◽

Related Mortality

This study aimed to analyse population-based mortality attributed to rare congenital anomalies (CAs) and assess the associated time trends and geographical differences in Spain. Data on CA-related deaths were sourced from annual mortality databases kept by the National Statistics Institute of Spain (1999–2013). Based on the ICD-10, only CAs corresponding to rare diseases definition were included in this study. Annual age-adjusted mortality rates were calculated and time trends were evaluated by joinpoint regression analysis. Geographical differences were assessed using standardised mortality ratios and cluster detection. A total of 13,660 rare-CA-related deaths (53.4% males) were identified in the study period. Annual age-adjusted mortality rates decreased by an average of −5.2% (−5.5% males, −4.8% females, p < 0.001). Geographical analysis showed a higher risk of rare-CA-related mortality in regions largely located in the south of the country. Despite their limitations, mortality statistics are essential and useful tools for enhancing knowledge of rare disease epidemiology and, by extension, for designing and targeting public health actions. Monitoring rare-CA-related mortality in Spain has shown a 15-year decline and geographical differences in the risk of death, all of which might well be taken into account by the health authorities in order to ensure equality and equity, and to adopt appropriate preventive measures.

Download Full-text

General principles governing record taking in patients with cleft lip and palate

Archives of Dental Research ◽

10.18231/j.adr.2021.013 ◽

2021 ◽

Vol 11 (2) ◽

pp. 86-89

Author(s):

Ashish Garg ◽

Sandhya Gupta

Keyword(s):

Congenital Anomaly ◽

Environmental Factors ◽

Collaborative Research ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Skeletal Maturity ◽

Craniofacial Anomalies ◽

Treatment Procedure ◽

Complex Procedure ◽

International Collaborative Research

(WHO meetings on International Collaborative Research on Craniofacial Anomalies).One of the most common congenital anomaly we come across is the Cleft Lip and palate where affected children suffer from range of functional as well as aesthetic problems. Cleft lip and palate is a multifunctional disease associated with environmental factors. Management of cleft is a complex procedure and demands co-operation among experts from different fields. Clinical treatment procedure extends from beginning of birth, to achieving skeletal maturity effectively.

Download Full-text

School performance for children with cleft lip and palate: a population-based study

Child Care Health and Development ◽

10.1111/cch.12388 ◽

2016 ◽

Vol 43 (2) ◽

pp. 222-231 ◽

Cited By ~ 5

Author(s):

J. C. Bell ◽

C. Raynes-Greenow ◽

R. Turner ◽

C. Bower ◽

A. Dodson ◽

...

Keyword(s):

School Performance ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Population Based ◽

Population Based Study

Download Full-text

CONGENITAL ANOMALIES Cleft Lip and Palate

Plastic & Reconstructive Surgery ◽

10.1097/00006534-198209000-00075 ◽

1982 ◽

Vol 70 (3) ◽

pp. 414

Author(s):

Kenneth R. Tucker

Keyword(s):

Congenital Anomalies ◽

Cleft Lip ◽

Cleft Lip And Palate

Download Full-text

Straight line closure of congenital macrostomia

Indian Journal of Plastic Surgery ◽

10.1055/s-0039-1697223 ◽

2004 ◽

Vol 37 (02) ◽

pp. 121-123 ◽

Cited By ~ 4

Author(s):

Richard Schwarz ◽

Digvijay Sharma

Keyword(s):

Congenital Anomaly ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Branchial Arch ◽

Skin Closure ◽

Rare Congenital Anomaly ◽

Cosmetic Results ◽

Straight Line

ABSTRACTThe results of patients operated on by Nepal Cleft Lip and Palate Association (NECLAPA) surgeons for congenital macrostomia were prospectively studied between January 2000 and December 2002. There were four males and three females with a median age of 10 years. Three had an associated branchial arch syndrome. In all patients an overlapping repair of orbicularis oris was done. Six patients had a straight line closure with excellent cosmetic results and one a Z-plasty with a more obvious scar. All had a normal appearing commissure. Overlapping orbicularis repair with straight line skin closure for this rare congenital anomaly is recommended.

Download Full-text

The central nervous system lesion in amniotic rupture sequence

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ◽

10.1017/cjn.2018.45 ◽

2018 ◽

Vol 45 (S1) ◽

pp. S4-S4

Author(s):

P. Shannon

Keyword(s):

Central Nervous System ◽

Nervous System ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Aqueductal Stenosis ◽

Cranial Vault ◽

Central Nervous System Lesion ◽

Secondary Pathology ◽

The Central Nervous System ◽

Near Occlusion

We review the central nervous system anatomy in nine cases of amniotic rupture sequence, all of which had neuropathological examinations. Of these, four had normal brains, and in none of these was the cranial vault involved, and one had cleft lip and palate. Of the remaining five, all had portions of the scalp, calvarium and dura replaced by amnionic membrane directly overlying arachnoid. In one, the membrane covered a narrow necked large encephalocele, and the contained brain demonstrated extensive disruption and degeneration. In the remaining four, one demonstrated cranioplacental adhesion, and in three there was a broad based encephalocele covered in large part by amnion. Two of these four cases demonstrated holoprosencephaly. One case with holoprosencephaly and one without demonstrated marked aqueductal stenosis, and two of the four demonstrated aqueductal occlusion or near occlusion by neuroglial excrescences. None demonstrated ventriculomegaly. Three of these four cases demonstrate varying degrees of mechanical distortion and secondary pathology. We conclude that brains with amnionic rupture sequence demonstrate both malformation and deformation, which likely points to the embryonic stage origin of the lesion.

Download Full-text

Women Are More Susceptible to Caries but Individuals Born with Clefts Are Not

International Journal of Dentistry ◽

10.1155/2011/454532 ◽

2011 ◽

Vol 2011 ◽

pp. 1-6 ◽

Cited By ~ 9

Author(s):

Aditi Jindal ◽

Michelle McMeans ◽

Somnya Narayanan ◽

Erin K. Rose ◽

Shilpa Jain ◽

...

Keyword(s):

Dental Care ◽

Strong Evidence ◽

Congenital Anomalies ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Geographic Area ◽

Caries Experience ◽

Access To Dental Care ◽

Cultural Pressures ◽

Great Burden

The identification of individuals at a higher risk of developing caries is of great interest. Isolated forms of cleft lip and palate are among the most common craniofacial congenital anomalies in humans. Historically, several reports suggest that individuals born with clefts have a higher risk for caries. Caries continues to be the most common infectious noncontagious disease worldwide and a great burden to any health system. The identification of individuals of higher susceptibility to caries is of great interest. In this paper, we assessed caries experience of 1,593 individuals from three distinct populations. The study included individuals born with clefts, their unaffected relatives, and unrelated unaffected controls that were recruited from areas with similar cultural pressures and limited access to dental care. DMFT/dmft scores were obtained, and caries experience rates were compared among the three groups in each geographic area. Individuals born with clefts did not present higher caries experience in comparison to their unaffected relatives or unrelated unaffected controls. Women tend to present higher caries rates in comparison to men. Our work provides strong evidence that individuals born with clefts are not at higher risk to caries; however, women tend to have more severe caries experience.

Download Full-text