An Epidemiologic Study of Orofacial Clefts with Other Birth Defects in Victoria, Australia

2006 ◽  
Vol 43 (5) ◽  
pp. 571-576 ◽  
Author(s):  
Linda D. Vallino-Napoli ◽  
Merilyn M. Riley ◽  
Jane L. Halliday
Keyword(s):  
Cleft Palate ◽  
Birth Defects ◽  
Birth Defect ◽  
Cleft Lip ◽  
Epidemiologic Study ◽  
Prevalence Ratio ◽  
Chromosomal Anomalies ◽  
Oral Clefts ◽  
System Defect ◽  
Epidemiological Characteristics

Objective: To describe the epidemiological characteristics of oral clefts occurring with other birth defects in Victoria, Australia. Methods: Information on infants and fetuses reported to the Victorian Birth Defects Register from 1983 to 2000 was collected. Birth defects were classified as Pierre Robin Sequence, chromosomal anomaly, nonchromosomal syndrome, single-system defect, or multiple-system defect. Pregnancy outcome and associations with selected infant and maternal features was examined. Results: One third of the 2022 oral clefts recorded had other birth defects. There were more overall cleft cases involving multiple systems and chromosomal anomalies than any other birth defect group. The prevalence ratio of cleft lip with or without cleft palate (CL/P) was highest among multiple-system defects and chromosomal anomalies. Perinatal mortality was high, with termination of pregnancy highest in CL/P and chromosomal anomalies and multiple-system defects. There was a nonsignificant excess of clefts among multiple births. Women ≥40 years old had a tendency toward having a child with a cleft palate and another birth defect. There was an increased likelihood that women born in the U.K. would have a baby with CL/P and another birth defect. Conclusions: This is among the first reports in Victoria, Australia, describing oral clefts and other birth defects and associations between infant and maternal factors. Although some findings confirmed other population-based studies, some continued to be at variance. Nonetheless, the data derived support examination of babies diagnosed with clefts for associated comorbidities.

Birth Defect Co-Occurrence Patterns Among Infants With Cleft Lip and/or Palate

2021 ◽  
pp. 105566562110100
Author(s):  
Maria Luisa Navarro Sanchez ◽  
Renata H. Benjamin ◽  
Laura E. Mitchell ◽  
Peter H. Langlois ◽  
Mark A. Canfield ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Birth Defects ◽  
Birth Defect ◽  
Cleft Lip ◽  
Population Based ◽  
Orofacial Clefts ◽  
Developmental Mechanisms ◽  
Using Data ◽  
Occurrence Patterns ◽  
Population Based Registry

Objective: To investigate 2- to 5-way patterns of defects co-occurring with orofacial clefts using data from a population-based registry. Design: We used data from the Texas Birth Defects Registry for deliveries between 1999 and 2014 to Texas residents, including 1884 cases with cleft palate (CP) and 5289 cases with cleft lip with or without cleft palate (CL±P) without a known syndrome. We identified patterns of defects co-occurring with CP and with CL±P observed more frequently than would be expected if these defects occurred independently. We calculated adjusted observed-to-expected ( O/ E) ratios to account for the known tendency of birth defects to cluster nonspecifically. Results: Among infants without a syndrome, 23% with CP and 21% with CL±P had at least 1 additional congenital anomaly. Several combinations of defects were observed much more often than expected. For example, the combination of CL±P, congenital hydrocephaly, anophthalmia, and other nose anomalies had an O/ E ratio of 605. For both CP and CL±P, co-occurrence patterns with the highest O/ E ratios involved craniofacial and brain abnormalities, and many included the skeletal, cardiovascular, and renal systems. Conclusions: The patterns of defects we observed co-occurring with clefts more often than expected may help improve our understanding of the relationships between multiple defects. Further work to better understand some of the top defect combinations could reveal new phenotypic subgroups and increase our knowledge of the developmental mechanisms that underlie the respective defects.

scholarly journals FOXE1 mutations in Thai patients with oral clefts

2013 ◽  
Vol 95 (5) ◽  
pp. 133-137 ◽  
Author(s):  
CHALURMPON SRICHOMTHONG ◽  
RUNGNAPA ITTIWUT ◽  
PICHIT SIRIWAN ◽  
KANYA SUPHAPEETIPORN ◽  
VORASUK SHOTELERSUK
Keyword(s):  
Cleft Palate ◽  
Birth Defects ◽  
Cleft Lip ◽  
Genetic Factors ◽  
Heterozygous State ◽  
Coding Region ◽  
Thai Population ◽  
Oral Clefts ◽  
Pcr Rflp ◽  
Genotype A

SummaryNon-syndromic oral clefts comprising cleft lip with and without cleft palate (CL/P) and cleft palate only (CPO) are common birth defects worldwide. Their aetiology involves both environmental and genetic factors. FOXE1 has previously been reported to be associated with oral clefts in some populations. Here, we investigate whether mutations in FOXE1 play a part in the formation of oral cleft in a Thai population. We first performed PCR–RFLP to genotype a previously reported associated polymorphism, c.-1204C > G (rs111846096), in our cohort. No association was found. In addition, two unrelated unaffected controls were found to be homozygous GG, indicating that homozygous GG at this c.-1204 position was not sufficient for the development of oral clefts. We then sequenced the entire coding region of FOXE1 in 458 unrelated individuals (146 CPOs, 108 CL/Ps and 204 Thai controls). Five different non-synonymous variants, c.274G > T (p.D92Y), c.569C > G (p.P190R), c.569C > T (p.P190L), c.664C > T (p.R222C) and c.1090G > A (p.G364S), were identified in CPOs and one, c.572C > G (p.P191R), in CL/P. All these six variants were in heterozygous state, each identified in one patient, and absent in 204 controls. Except the p.P190R, which was previously reported, the other five variants were novel. Our study identifies probable susceptibility variants of FOXE1 for oral clefts in the Thai population.

An Epidemiologic Study of Oral Clefts in Iran: Analysis of 1669 Cases

2000 ◽  
Vol 37 (2) ◽  
pp. 191-196 ◽  
Author(s):  
Mohammad Hossain Rajabian ◽  
Mehdi Sherkat
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Epidemiologic Study ◽  
Maternity Hospital ◽  
Control Group ◽  
Normal Children ◽  
Cross Sectional ◽  
Oral Clefts ◽  
Genetic Features ◽  
Associated Malformations

Objective The objective of this study was to assess the epidemiology and some genetic aspects of oral clefting in Iran. Design The study was a 15-year cross-sectional (prevalence) study from August 1976 to September 1991. Setting The setting for the study was two plastic surgery departments, both mostly referral centers, and a maternity hospital in Iran. Participants The participants were 1669 consecutive surgical cases with oral clefts (79% between 1 day and 18 months of age), registered in two centers. In a parallel study, 19,369 livebirths born in a maternity hospital within the same period were surveyed to ascertain prevalence of clefting at birth. Normal children of this population were used as the control group. Samples were analyzed by prevalence of clefting at birth, type of oral cleft, side of clefting, sex ratio, associated malformations, clefts in relatives, and parental consanguinity. Results The prevalence of clefts was 1.03 per 1000 births. Cleft lip (without cleft palate) had a higher (34.9%) and cleft palate alone had a significantly lower prevalence (17.4%) than expected. Cleft lip (without cleft palate) was more common in females (53.6%) than in males (46.4%). The rate of associated malformations in cleft patients (7.73%) was higher than in controls (0.093%). Association between clefting and consanguinity was significant (45.8% in cases versus 43.1% in controls). Occurrence of noncleft congenital malformations among first-degree relatives of our cases (2.77%) was nearly two times that of controls (1.55%). Conclusion Our study reveals that the population incidence of oral clefts in Iran is much closer to Europian than Arab-African or South East Asian countries. However, significant variations in other epidemiologic and some genetic features were observed.

An Epidemiologic Study of Isolated Cleft Lip, Palate, or Both in Victoria, Australia from 1983 to 2000

2004 ◽  
Vol 41 (2) ◽  
pp. 185-194 ◽  
Author(s):  
Linda D. Vallino-Napoli ◽  
Merilyn M. Riley ◽  
Jane Halliday
Keyword(s):  
Cleft Palate ◽  
Maternal Age ◽  
Cleft Lip ◽  
Epidemiologic Study ◽  
Population Based ◽  
Country Of Birth ◽  
Neonatal Deaths ◽  
Live Births ◽  
Cleft Lip Palate ◽  
Epidemiological Characteristics

Objective To report the epidemiological characteristics of isolated cleft lip, cleft palate or both (CL ± P and CP) using population-based data in Victoria, Australia. Design Descriptive study of a cohort of children born between 1983 and 2000 notified to the Victorian Birth Defects Register by multiple ascertainment sources. Participants Data were collected on patients identified with CL ± P and CP without associated defects classified as live births, stillbirths, neonatal deaths, and terminated pregnancies < 20 weeks’ gestation following prenatal identification. Information was collected on sex, plurality, maternal age, and country of birth. Results The overall prevalence (per 10,000 pregnancies) of CL ± P was 7.8 (95% confidence interval [CI] = 7.30, 8.33; cleft lip [CL] 3.3; 95% CI = 2.97, 3.65, CL+P 4.5; 95% CI = 4.13, 4.91) and cleft palate (CP), 4.3 (95% CI = 3.89, 4.66). The prevalence of CL + P was higher among stillbirths, neonatal deaths, and terminated pregnancies than CL (without CP) and CP. Boys were at greater risk than girls for CL ± P and girls at greater risk than boys for CP. Regardless of cleft type, there was a nonsignificant excess of clefts among singleton births than multiple births and no related effects of maternal age or country of birth. Conclusions The prevalence of isolated CL ± P and CP in Victoria parallels other population-based studies of the same conditions. Inclusion of stillbirths, neonatal deaths, and terminations had little impact on rates. The effect of sex and plurality on cleft type is consistent with the literature, but the effects of maternal age and country of birth remain equivocal. Further studies focusing on certain ethnic groups are warranted to explain the higher rates observed.

Structural Birth Defects Associated with Oral Clefts in Hawaii, 1986 to 2001

2006 ◽  
Vol 43 (3) ◽  
pp. 356-362 ◽  
Author(s):  
Mathias B. Forrester ◽  
Ruth D. Merz
Keyword(s):  
Cleft Palate ◽  
Birth Defects ◽  
Cleft Lip ◽  
Single Ventricle ◽  
Lower Limbs ◽  
Upper Limbs ◽  
Oral Clefts ◽  
Oral Cleft

Objective To identify structural birth defects that occur in association with oral clefts. Methods Data were obtained from a birth defects registry and included all infants and fetuses with cleft palate without cleft lip or cleft lip with or without cleft palate delivered from 1986 to 2001. For 47 specific structural birth defects, rates among oral cleft cases were compared with the rates among all infants and fetuses with major birth defects, excluding those with oral clefts. Results Among cleft palate only cases, the rates were significantly higher than expected for encephalocele, microcephaly, and syndactyly. Among cases of cleft lip with or without cleft palate, the rates were significantly higher than expected for anophthalmia/microphthalmia, single ventricle, reduction deformity of upper limbs, and reduction deformity of lower limbs. When cases of cleft palate only and cleft lip with or without cleft palate were compared as to the rates for particular birth defects, the rates of the defects were either higher or lower than expected in both oral cleft categories for 38 (81%) of the defects. Conclusions Certain birth defects were more frequently associated with oral clefts than might be expected. For the majority of defects, their patterns of association were similar between cleft palate without cleft lip and cleft lip with or without cleft palate.

The SNP rs560426 Within ABCA4-ARHGAP29 Locus and the Risk of Nonsyndromic Oral Clefts

2020 ◽  
Vol 57 (6) ◽  
pp. 671-677 ◽  
Author(s):  
Yah-Huei Wu-Chou ◽  
Kuo-Ting Philip Chen ◽  
Yi-Chieh Lu ◽  
Yin-Ting Lin ◽  
Hsien-Fang Chang ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Strong Association ◽  
Nucleotide Polymorphisms ◽  
Test Analysis ◽  
Oral Clefts ◽  
The Family ◽  
Abca4 Gene ◽  
Family Based ◽  
New Evidence

Objective: Nonsyndromic oral clefts are common birth defect with complex etiology. In the present study, we attempt to further validate the possible role for ABCA4 and ARHGAP29 in the susceptibility to nonsyndromic oral clefts. Design: We performed allelic transmission disequilibrium test analysis, on 10 eligible single nucleotide polymorphisms (SNPs) and SNP haplotypes using the Family-Based Association Test. Participants: The study sample consisted of 334 case–parent trios of nonsyndromic oral clefts from Taiwanese population, separated into nonsyndromic cleft lip with or without cleft palate (NSCL/P) and nonsyndromic cleft palate only (NSCPO) groups. Results: We found only the SNP rs560426 within the ABCA4 gene showed strong association with NSCPO ( P = .03498; Permuted P = .05382). No association between other 9 selected SNPs in ABCA4-ARHGAP29 region and the risk of nonsyndromic oral clefts was found. For the haplotype analyses, we found only haplotype T-C (rs570926 and rs3789431) in ABCA4 block 2 showed significant association with nonsyndromic NSCL/P in these Taiwanese trios. Conclusions: We used a family-based analysis in 334 Taiwanese case–parent trios to validate the possible role for ABCA4 and ARHGAP29 in the susceptibility to nonsyndromic oral clefts. This study provides a new evidence for an association between the intron variant rs560426 within ABCA4 and nonsyndromic cleft palate which may contribute their regulatory role in craniofacial development.

scholarly journals Burden and consequence of birth defects in Nepal-evidence from prospective cohort study

2021 ◽  
Author(s):  
Prajwal Paudel ◽  
Avinash K Sunny ◽  
Rejina Gurung ◽  
Abhishek Gurung ◽  
Honey Malla ◽  
...  
Keyword(s):  
Risk Factor ◽  
Cohort Study ◽  
Prospective Cohort Study ◽  
Birth Defects ◽  
Prospective Cohort ◽  
Birth Defect ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Birth Asphyxia ◽  
Neonatal Infection

Abstract Background-Every year an estimated 7.9 million babies are born with birth defect. Of these babies, more than 3 million die and 3.2 million have disability. Improving nationwide information on prevalence of birth defect, risk factor and consequence is required for better resource allocation for prevention, management and rehabilitation. In this study, we assess the prevalence of birth defect, associated risk factors and consequences in Nepal.Method-This is a prospective cohort study conducted in 12 hospitals of Nepal for 18 months. All the women who delivered in the hospitals during the study period was enrolled. Independent researchers collected data on the social and demographic information using semi-structured questionnaire at the time of discharge and clinical events and birth outcome information from the clinical case note. Data were analyzed on the prevalence and type of birth defect. Logistic regression was done to assess the risk factor and consequences for birth defect. Results-Among the total 87,242 livebirths, the prevalence of birth defects was found to be 5.8 per 1000 live births. The commonly occurring birth defects were anencephaly (3.95%), cleft lip (2.77%), cleft lip and palate (6.13%), clubfeet (3.95%), eye abnormalities (3.95%) and meningomyelocele (3.36%). The odds of birth defect was higher among mothers with age <20 years (adjusted Odds ratio (aOR) 1.64; 95% CI, 1.18-2.28) and disadvantaged ethnicity (aOR 1.78; 95% CI, 1.46-2.18). The odds of birth asphyxia was twice fold higher among babies with birth defect (aOR 1.88; 95% CI, 1.41-2.51) in reference with babies without birth defect. The odds of neonatal infection was twice fold higher among babies with birth defect (aOR 1.82; 95% CI, 1.12-2.96) in reference with babies without birth defect. Babies with birth defect had three-fold risk of pre-discharge mortality (aOR 3.00; 95% CI, 1.93-4.69). Conclusion- Babies with birth defect have high risk for birth asphyxia, neonatal infection and pre-discharge mortality at birth. Further evaluation on the care provided to babies who have birth defect is warranted.

Birth defects in the Brazilian side of the triple border: a population-based cross-sectional study

2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
F K Nampo ◽  
S Souza ◽  
C R Pestana
Keyword(s):  
Birth Defects ◽  
Birth Defect ◽  
Cleft Lip ◽  
Maternal Education ◽  
Sociodemographic Factors ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional ◽  
Factors Associated ◽  
Major Birth Defect

Abstract Background Major birth defects are characterized by its severity and are a public health challenge since it chronically affects the population. Foz do Iguassu is located in Brazili's largest international border and presents a birth defect rate 50% greater than the country's average. Methods Identifying factors associated to birth defects is important to guide preventive actions toward modifiable risk factors and target the most susceptible population. In this cross-sectional study we measured the prevalence of major birth defects and associated maternal sociodemographic factors in Foz do Iguassu. Data were collected from a governmental registry and included all births that occurred in the city between 2012 to 2017. The variables measured were maternal education, maternal race, country of residence, maternal parity and onset of prenatal care. Data were analyzed through logistic regression models to verify the maternal sociodemographic factors associated with major birth defects. Results 26,214 births were analyzed; among the 305 birth defects registered, 140 (46%) corresponded to a major birth defect. Cleft lip and/or palate and gastroschisis were the most prevalent major birth defect (9.5/10,000 live births and 6.83/10,000 live births, respectively). Maternal education up to 7 years was the only variable associated with the major birth defects (ORadj=1.58; CI = 1.07-2.33; p = 0.02). Maternal age was associated with gastroschisis (mean: 21.5 years; p = 0.002) and Down syndrome (mean: 33.5 years; p = 0.007). Conclusions In this area, cleft lip and/or palate and gastroschisis are the most common major birth defects, and maternal education is weakly associated with major birth defects. Key messages The epidemiology of major birth defects in this area differs from Brazil’s. Future research should focus on inherent risk factors for congenital defects and exposure to teratogens.

Birth weight and gestational age of newborns with cleft lip with or without cleft palate and with isolated cleft palate

2004 ◽  
Vol 27 (2) ◽  
pp. 185-190 ◽  
Author(s):  
Diego Wyszynski ◽  
Andrea Sarkozi ◽  
Peter Vargha ◽  
Andrew Czeizel
Keyword(s):  
Birth Weight ◽  
Cleft Palate ◽  
Gestational Age ◽  
Premature Birth ◽  
Cleft Lip ◽  
Very Low Birth Weight ◽  
Elevated Risk ◽  
Healthy Controls ◽  
Oral Clefts ◽  
Isolated Cleft Palate

The birth weight and gestational age of 1368 newborns with isolated cleft lip with or without cleft palate and 582 with isolated cleft palate were compared to those of matched healthy controls. The results indicate that fetuses with oral clefts are at elevated risk of having low and very low birth weight, but not of having a premature birth. Speculations on a relationship between these findings and the presence of oral clefts are presented.

scholarly journals Caracterización de los pacientes con labio y paladar hendido y de la atención brindada en el hospital infantil universitario de manizales (Colombia), 2010./Study of clinical and epidemiological characteristics of patients with lip and palate treated in th

2012 ◽  
Vol 12 (2) ◽  
pp. 190-198 ◽  
Author(s):  
Ingid Charry ◽  
Mónica lorena Aguirre ◽  
José jaime Castaño castrillón ◽  
Brenda juliana Gómez ◽  
Juliana Higuera ◽  
...  
Keyword(s):  
Cleft Palate ◽  
Cleft Lip ◽  
Cleft Lip And Palate ◽  
Multidisciplinary Treatment ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
Calidad De Vida ◽  
Epidemiological Characteristics

Objetivo: El labio y paladar hendido es la malformación más común de cabeza y cuello en el medio colombiano, es una patología multifactorial determinada por alteraciones genéticas y ambientales. Se da en uno de cada 900 nacidos vivos afectando a varones en una mayor proporción. El objetivo del presente estudio es registrar las características sociodemográficas, clínicas y de tratamiento de 118 pacientes con labioy paladar hendido atendidos en el Hospital Infantil Universitario “Rafael Henao Toro” de la ciudad de Manizales (Colombia).Materiales y Métodos: Estudio de corte transversal en pacientes que asistieron a la clínica de labio y paladar en el mencionado hospital.Resultados: Se encontró frecuencia del sexo masculino en un 55,1%, un 51,7% procedente del área urbana y en su mayoría de los estratos III y IV, la frecuencia más alta se presentó para labio y paladar hendido grado III con 36,4%. El esquema de tratamiento más utilizado fue la palatorrafia (63,6%) y la queiloplastia (69,5%).Conclusiones: La caracterización de los pacientes con labio y Paladar Hendido indica predominio por los pacientes con diagnóstico de labio y paladar hendido Grado III, igual distribución entre géneros, procedencia urbana en los cuales el estrato IV cuenta con la mayor frecuencia. Cabe destacar la importancia de un diagnóstico oportuno además un tratamiento multidisciplinario, que cuente con apoyo personal además del quirúrgico que se verá reflejado en una buena evolución y calidad de vida de los pacientes. Background: Cleft lip and cleft palate is the most common malformation of the headand neck of our environment, is a multifactorial disease determined by genetic andenvironmental factors. It occurs in one in every 900 live births, affecting males at agreater rate, today’s advances in terms of proposed treatment from the multidisciplinaryapproach, starting with a strict evaluation by pediatric to ensure that patients are in theright conditions to initiate surgical procedures.Materials and Methods: A cross sectional study. We recorded demographic characteristics,clinical and treatment of 118 patients who attended the lip and palate clinicat Children’s Hospital University of Manizales.Results: We found more frequently in males 55.1%, 51.7% from the urban area andmost of the layers III and IV, the highest incidence is presented for cleft lip and palategrade III in 36.4% The most commonly used treatment regimen was palate surgeryand cheiloplasty.Conclusions: The characterization of patients with cleft lip and cleft palate indicatespredominance for patients with cleft lip and palate grade III, gender equality, urbanhometown strata IV which has the highest frequency. Remarkable the importance ofearly diagnosis also appropriate multidisciplinary treatment, that has support in additionto the surgical staff will be reflected in a good performance and quality of life of patients

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