A Practical Guide to Cleft Lip and Palate Birth Defects

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.

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Use of zebrafish to test candidate genes and mutations associated with structural birth defects, primarily in cleft lip and palate

10.17077/etd.tmmb4ya6 ◽

2014 ◽

Author(s):

Tiffany Lynn Smith

Keyword(s):

Candidate Genes ◽

Birth Defects ◽

Cleft Lip ◽

Cleft Lip And Palate

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Incidence of Cleft Lip and Palate and Risks of Additional Malformations

The Cleft Palate-Craniofacial Journal ◽

10.1597/1545-1569_1998_035_0040_ioclap_2.3.co_2 ◽

1998 ◽

Vol 35 (1) ◽

pp. 40-45 ◽

Cited By ~ 41

Author(s):

Catharina Hagberg ◽

Ola Larson ◽

Josef Milerad

Keyword(s):

Birth Weight ◽

Birth Defects ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Live Births ◽

Different Types ◽

Mother’S Age ◽

Rate Ratios ◽

Isolated Cleft Palate ◽

Similar Incidence

Objective and Methods Children with cleft lip and/or palate (n = 251) born between 1991 and 1995 in the county of Stockholm, Sweden, were studied with reference to incidence and rate ratios (RRs) of different types of clefts, gender, birth weight, mother's age, and length of pregnancy. Children who had clefts and additional malformations were compared with children who had clefts but no additional malformations. Results The incidence of clefts was 2.0/1000 live births, and it was higher among males than among females. The RR, an index of relative risk, was 1.58. The main groups, children with isolated cleft lip, children with cleft lip and palate, and children with isolated cleft palate, showed similar incidence values (0.6-0.7/1000 live births). Children with bilateral clefts had an incidence of 0.3/1000 live births. Additional malformations were found in approximately every sixth newborn with a cleft when children with Robin sequence were excluded. There was a tendency for newborns with bilateral clefts to have additional malformations (RR = 1.36; confidence interval = 0.74-2.49). Children with clefts and additional malformations had lower birth weight and were born earlier than children with clefts only. Conclusion Preterm cleft children with low birth weight should be screened for the presence of other birth defects.

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Prevalence of cleft lip and/or cleft palate in Guangdong province, China, 2015–2018: a spatio-temporal descriptive analysis

BMJ Open ◽

10.1136/bmjopen-2020-046430 ◽

2021 ◽

Vol 11 (8) ◽

pp. e046430

Author(s):

Yingxian Zhu ◽

Huazhang Miao ◽

Qinghui Zeng ◽

Bing Li ◽

Degang Wang ◽

...

Keyword(s):

Cleft Palate ◽

Birth Defects ◽

Pearl River Delta ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Guangdong Province ◽

Pearl River ◽

Pearl River Delta Region ◽

Delta Region ◽

Spatio Temporal

ObjectivesThis study aimed to investigate the temporal and spatial characteristics of cleft lip and/or palate based on a large-scale birth defect monitoring database.MethodsData on perinatal infants and children with cleft lip and/or palate defects from 1 January 2015 to 31 December 2018 in Guangdong province of China were collected. The variables including the demographic data, basic family information (address, education level, etc.), the infant’s birth weight, gender and other basic parameters were collected and analysed.ResultsDuring the study period, the prevalence of cleft lip and/or palate was 7.55 per 10 000 perinatal infants. The prevalence of cleft lip, cleft palate and cleft lip and palate were 2.34/10 000, 2.22/10 000 and 2.98/10 000, respectively. The prevalence of cleft lip and/or palate showed a pronounced downward trend, reducing from 8.47/10 000 in 2015 to 6.51/10 000 in 2018. We observed spatial heterogeneity of prevalence of cleft lip and/or palate across the study period in Guangdong. In the Pearl River Delta region, the overall prevalence of cleft lip and/or palate was 7.31/10 000, while the figure (7.86/10 000) was slightly higher in the non-Pearl River Delta region (p<0.05). Concerning infant gender, the prevalence was in general higher in boys than girls (p<0.05). In addition, the higher prevalence was more common in mothers older than 35 years old. For the birth season, infants born in spring tended to have a higher prevalence than those born in other seasons, regardless of the prevalence of cleft lip and palate calculated separately or jointly (p<0.05). The majority of newborns with cleft lip and palate were accompanied by other birth defects.ConclusionThis study contributes a better understanding of the characteristics of spatio-temporal trends for birth defects of cleft lip and/or palate in south China.

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Nonsyndromic cleft lip and palate is not associated with cancer or other birth defects

American Journal of Medical Genetics ◽

10.1002/(sici)1096-8628(20000103)90:1<17::aid-ajmg4>3.0.co;2-9 ◽

2000 ◽

Vol 90 (1) ◽

pp. 17-24 ◽

Cited By ~ 18

Author(s):

Ellen F. Steinwachs ◽

Chris Amos ◽

Dennis Johnston ◽

John Mulliken ◽

Samuel Stal ◽

...

Keyword(s):

Birth Defects ◽

Cleft Lip ◽

Cleft Lip And Palate

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Prevalence of cleft lip and palate in cousin marriages

Annals of King Edward Medical University ◽

10.21649/akemu.v12i1.838 ◽

2016 ◽

Vol 12 (1) ◽

Author(s):

Humera Zafar ◽

Farid Ahmad Khan ◽

Muhammad Umar Farooq ◽

Noor Ahmad Niazi ◽

Zafar F ◽

...

Keyword(s):

Risk Factors ◽

Risk Factor ◽

Birth Defects ◽

Retrospective Review ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Developed Countries ◽

Cleft Lip Palate

Background: Birth defects are one of the leading causes of paediatric disability and mortality in developing as well as developed countries. The purpose of this study is to report our 3 months experience regarding the prevalence of cleft lip and palate in cousin marriages. Methods: A retrospective review of 50 patients who presented with cleft lip or cleft lip/palate during 3 months, from 9th March to 8th June, 2005 was carried out.. Results: Among the risk factors cousin marriages is a most frequent risk factor. Cleft lip is more common than cleft lip/palate and cleft lip alone is a different entity than cleft lip and palate combined.

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Burden and consequence of birth defects in Nepal-evidence from prospective observational study

10.21203/rs.3.rs-41322/v1 ◽

2020 ◽

Author(s):

Prajwal Paudel ◽

Avinash K Sunny ◽

Rejina Gurung ◽

Abhishek Gurung ◽

Honey Malla ◽

...

Keyword(s):

Risk Factors ◽

Observational Study ◽

Birth Defects ◽

Birth Defect ◽

Cleft Lip ◽

Prospective Observational Study ◽

Cleft Lip And Palate ◽

Birth Outcome ◽

Birth Asphyxia ◽

Neonatal Infection

Abstract Background-Every year an estimated 7.9 million babies are born with birth defects. Of these, more than 3 million die and a further 3.2 million suffer from a disability. In order to address this, countries require data to enable better resource allocation for prevention, management and rehabilitation of babies born with birth defects. This paper contributes to this evidence base, assessing the prevalence of birth defects, associated risk factors and health consequences in Nepal. Method-This is a prospective observational study conducted in 12 hospitals in Nepal for 18 months. All the women who delivered in the hospitals during the study period were enrolled. Independent researchers collected social and demographic data using semi-structured questionnaires at the time of discharge. Clinical events and birth outcome information were extracted from clinical case notes. Data were analysed to determine the prevalence and type of birth defect. Logistic regression was performed to assess risk factors and health outcomes of babies born with a 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 most common birth defects observed 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 having a baby with a birth defect was higher for mothers younger than 20 years (adjusted Odds ratio (aOR) 1.64; 95% CI, 1.18-2.28) and those from disadvantaged ethnicity (aOR 1.78; 95% CI, 1.46-2.18). The odds of birth asphyxia was almost double for babies with birth defect (aOR 1.88; 95% CI, 1.41-2.51) when compared to babies without a birth defect. The odds of neonatal infection was nearly double for babies with birth defect (aOR 1.82; 95% CI, 1.12-2.96) compared to babies without a defect. Babies with a 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 a higher risk of birth asphyxia, neonatal infection and pre-discharge mortality at birth. A portion of birth defect could have been prevented through micro-nutrient supplementation, a portion can be managed through surgery and rehabilitation. Funding-Swedish Research Council (VR)

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Genetic factors influencing risk to orofacial clefts: today’s challenges and tomorrow’s opportunities

F1000Research ◽

10.12688/f1000research.9503.1 ◽

2016 ◽

Vol 5 ◽

pp. 2800 ◽

Cited By ~ 75

Author(s):

Terri H. Beaty ◽

Mary L. Marazita ◽

Elizabeth J. Leslie

Keyword(s):

Birth Defects ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Familial Aggregation ◽

Association Studies ◽

Genome Wide Association Studies ◽

Orofacial Clefts ◽

Craniofacial Malformations ◽

Genome Wide ◽

The Right

Orofacial clefts include cleft lip (CL), cleft palate (CP), and cleft lip and palate (CLP), which combined represent the largest group of craniofacial malformations in humans with an overall prevalence of one per 1,000 live births. Each of these birth defects shows strong familial aggregation, suggesting a major genetic component to their etiology. Genetic studies of orofacial clefts extend back centuries, but it has proven difficult to define any single etiologic mechanism because many genes appear to influence risk. Both linkage and association studies have identified several genes influencing risk, but these differ across families and across populations. Genome-wide association studies have identified almost two dozen different genes achieving genome-wide significance, and there are broad classes of ‘causal genes’ for orofacial clefts: a few genes strongly associated with risk and possibly directly responsible for Mendelian syndromes which include orofacial clefts as a key phenotypic feature of the syndrome, and multiple genes with modest individual effects on risk but capable of disrupting normal craniofacial development under the right circumstances (which may include exposure to environmental risk factors). Genomic sequencing studies are now underway which will no doubt reveal additional genes/regions where variants (sequence and structural) can play a role in controlling risk to orofacial clefts. The real challenge to medicine and public health is twofold: to identify specific genes and other etiologic factors in families with affected members and then to devise effective interventions for these different biological mechanisms controlling risk to complex and heterogeneous birth defects such as orofacial clefts.

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Addressing the challenges of cleft lip and palate research in India

Indian Journal of Plastic Surgery ◽

10.1055/s-0039-1699372 ◽

2009 ◽

Vol 42 (S 01) ◽

pp. S9-S18 ◽

Cited By ~ 2

Author(s):

Peter Mossey ◽

Julian Little

Keyword(s):

Birth Defects ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

World Health Organisation ◽

World Health ◽

Birth Prevalence ◽

Childhood Morbidity ◽

The World ◽

Rural Access

ABSTRACTThe Indian sub-continent remains one of the most populous areas of the world with an estimated population of 1.1 billion in India alone. This yields an estimated 24.5 million births per year and the birth prevalence of clefts is somewhere between 27,000 and 33,000 clefts per year. Inequalities exist, both in access to and quality of cleft care with distinct differences in urban versus rural access and over the years the accumulation of unrepaired clefts of the lip and palate make this a significant health care problem in India. In recent years the situation has been significantly improved through the intervention of Non Governmental Organisations such as SmileTrain and Transforming Faces Worldwide participating in primary surgical repair programmes. The cause of clefts is multi factorial with both genetic and environmental input and intensive research efforts have yielded significant advances in recent years facilitated by molecular technologies in the genetic field. India has tremendous potential to contribute by virtue of improving research expertise and a population that has genetic, cultural and socio-economic diversity. In 2008, the World Health Organisation (WHO) has recognised that non-communicable diseases, including birth defects cause significant infant mortality and childhood morbidity and have included cleft lip and palate in their Global Burden of Disease (GBD) initiative. This will fuel the interest of India in birth defects registration and international efforts aimed at improving quality of care and ultimately prevention of non-syndromic clefts of the lip and palate.

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