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

2014 ◽  
Author(s):  
Tiffany Lynn Smith
2021 ◽  
Author(s):  
Prajwal Paudel ◽  
Avinash K Sunny ◽  
Rejina Gurung ◽  
Abhishek Gurung ◽  
Honey Malla ◽  
...  

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.


2009 ◽  
Vol 126 ◽  
pp. S121-S122
Author(s):  
Daniela F. Bueno ◽  
Daniele Y. Sunaga ◽  
Gerson S. Kobayashi ◽  
Meire Aguena ◽  
Cassio E.R. Amaral ◽  
...  

PLoS Genetics ◽  
2005 ◽  
Vol 1 (6) ◽  
pp. e64 ◽  
Author(s):  
Alexandre R Vieira ◽  
Joseph R Avila ◽  
Sandra Daack-Hirsch ◽  
Ecaterina Dragan ◽  
Têmis M Félix ◽  
...  

1998 ◽  
Vol 35 (1) ◽  
pp. 40-45 ◽  
Author(s):  
Catharina Hagberg ◽  
Ola Larson ◽  
Josef Milerad

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.


2000 ◽  
Vol 99 (2) ◽  
pp. 105 ◽  
Author(s):  
Atsuko TANABE ◽  
Shigeru TAKETANI ◽  
Yoko ENDO-ICHIKAWA ◽  
Rikio TOKUNAGA ◽  
Yutaka OGAWA ◽  
...  

BMJ Open ◽  
2021 ◽  
Vol 11 (8) ◽  
pp. e046430
Author(s):  
Yingxian Zhu ◽  
Huazhang Miao ◽  
Qinghui Zeng ◽  
Bing Li ◽  
Degang Wang ◽  
...  

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.


1986 ◽  
Vol 95 (2) ◽  
pp. 252-253
Author(s):  
Douglas E. Mattox ◽  
G. David Neal

2011 ◽  
Vol 119 (6) ◽  
pp. 413-417 ◽  
Author(s):  
Baiba Lace ◽  
Inga Kempa ◽  
Linda Piekuse ◽  
Ieva Grinfelde ◽  
Janis Klovins ◽  
...  

Author(s):  
Andrew C. Lidral ◽  
Jeffrey C. Murray ◽  
Kenneth H. Buetow ◽  
Ann M. Basart ◽  
Heidi Schearer ◽  
...  

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