Prevalence and Characteristics of Non-Syndromic Orofacial Clefts and the Influence of Consanguinity

2014 ◽  
Vol 38 (3) ◽  
pp. 241-246 ◽  
Author(s):  
NM Alamoudi ◽  
H J Sabbagh ◽  
NPT Innes ◽  
D El Derwi ◽  
AZ Hanno ◽  
...  

The Objective of this study was to identify the prevalence and describe the characteristics of non-syndromic orofacial cleft (NSOFC) in Jeddah, Saudi Arabia and examine the influence of consanguinity. Study Design: Six hospitals were selected to represent Jeddah's five municipal districts. New born infants with NSOFC born between 1st of January 2010 to 31st of December 2011 were clinically examined and their number compared to the total number of infants born in these hospitals to calculate the prevalence of NSOFC types and sub-phenotypes. Referred Infants were included for the purpose of studying NSOFC characteristics and their relationship to consanguinity. Information on NSOFC infants was gathered through parents’ interviews, infants’ files and patient examinations. Results: Prospective surveillance of births resulted in identifying 37 NSOFC infants born between 1st of January 2010 to 31st of December 2011 giving a birth prevalence of 0.80/1000 living births. The total infants seen, including referred cases, were 79 children. Consanguinity among parents of cleft palate (CP) cases was statistically higher than that among cleft lip with or without cleft palate (CL/P) patients (P=0.039). Although there appears to be a trend in the relationship between consanguinity and severity of CL/P sub-phenotype, it was not statistically significant (P= 0.248). Conclusions: Birth prevalence of NSOFC in Jeddah City was 0.8/1000 live births with CL/P: 0.68/1000 and CP: 0.13/1000. Both figures were low compared to the global birth prevalence (NSOFC: 1.25/1000, CL/P: 0.94/1000 and CP: 0.31/1000 live births). Consanguineous parents were statistically higher among CP cases than among other NSOFC phenotypes.

2003 ◽  
Vol 40 (5) ◽  
pp. 481-485 ◽  
Author(s):  
J. D. Clark ◽  
P. A. Mossey ◽  
L. Sharp ◽  
J. Little

Objective The purpose of this study was to investigate the association between socioeconomic status and orofacial clefts (OFC) in Scotland. Design Study of prevalence at birth over a 10-year period using an area-based measure of material deprivation. Setting Population-based study throughout Scotland. Participants Eight hundred thirty-four live births with OFC born between January 1, 1989, and December 31, 1998, ascertained from the nationwide register of the Cleft Service in Scotland, compared with the total 603,825 live births in Scotland in this period. Results There was a strong positive relationship whereby the prevalence of OFC at birth increased with increasing deprivation. This trend was statistically significant for cleft lip and/or palate (CL[P]: p = .016) but not for cleft palate (CP; p = .078). For each type of cleft, the relative risk among those resident in the most deprived areas, compared with those resident in the least deprived areas, was 2.33. Conclusions The association between OFC and socioeconomic status is consistent with a report for an earlier period in a smaller part of Scotland. Unlike the earlier study, this pattern appears to be stronger for CL(P) than for CP. These observations do not appear to be an artifact of recording. It is possible that they reflect the association between deprivation and risk factors for OFC, most likely tobacco smoking during pregnancy. Because the relationship between OFC and socioeconomic status appears to have been virtually unstudied in other populations, it would be valuable to investigate this relationship elsewhere and determine whether known risk factors account for the relationship.


2013 ◽  
Vol 2013 ◽  
pp. 1-6 ◽  
Author(s):  
P. Agbenorku ◽  
M. Yore ◽  
K. A. Danso ◽  
C. Turpin

Background. Cleft lip and cleft palate are among the most common orofacial congenital anomalies. This study is to establish Orofacial Clefts Database for Kumasi, Ghana, with a view to extend it to other cities in future to obtain a national orofacial anomaly database. Methods. A descriptive prospective survey was carried out at eleven selected health facilities in Kumasi. Results. The total number of live births recorded was 27,449. Orofacial anomalies recorded were 36, giving an incidence of 1.31/1000 live births or 1 in 763 live births. The mean maternal age of cleft lip/palate babies was 29.85 years (range 18–40 years). The male : female ratio for the orofacial anomalies babies was 1.3 : 1; the male : female ratio was 0.5 : 1 in the cleft lip group, 1.3 : 1 in the cleft lip and palate group, and 4 : 1 in the cleft palate group. The majority of clefts were unilateral (69.4%, n=25), with females (n=14) outnumbering males (n=11). A family history of cleft was recorded with five babies (13.9%). Associated congenital anomalies were recorded in seven (19.4%) cleft lips and/or palates. Conclusion. The incidence of 1 in 763 live births found in this study indicates that cleft lip/palate is a common congenital anomaly in Kumasi.


2007 ◽  
Vol 44 (3) ◽  
pp. 244-250 ◽  
Author(s):  
Peter A. Mossey ◽  
Janet A. Davies ◽  
Julian Little

Objective: To investigate the association between pregnancy planning and orofacial clefts in the United Kingdom. Design: Case–control study. Setting: Scotland and the Manchester and Merseyside regions of England. Participants: One hundred and ninety-one children born with nonsyndromic orofacial cleft, 1997 to 2000, and 247 controls. Main outcome measure: Cleft lip with and without cleft palate, and cleft palate. Results: There was an inverse association between planning for pregnancy and orofacial cleft in the offspring (odds ratio [OR] = 0.51, 95% confidence interval [CI] = 0.33–0.79). An unplanned pregnancy together with smoking in the first trimester of pregnancy resulted in almost treble the risk of a child with an orofacial cleft when compared with those who planned their pregnancy and did not smoke (OR = 2.92, CI = 1.50–5.65). Conclusions: Planned pregnancies were associated with a lower risk of orofacial clefts. Isolation of the elements of pregnancy planning implicated in these results is difficult. Current preconception advice needs to reach a wider audience; however, for maximum impact, efforts are needed to reduce the numbers of unplanned pregnancies.


2003 ◽  
Vol 40 (6) ◽  
pp. 624-628 ◽  
Author(s):  
Bengt Källén

Objective To study the association between maternal drug use in early pregnancy and orofacial cleft in the infant. Design Register analysis based on prospectively collected information. Patients All delivered women in Sweden July 1, 1995, through December 31, 2001. Main outcome measure Presence of orofacial cleft in infant. Results Prospective information on maternal drug use during the first trimester, as reported in early pregnancy, was studied in 1142 infants with orofacial clefts, isolated or with other malformations, excluding chromosome anomalies. Any drug use was not associated with clefts (odds ratio [OR] = 0.98, 95% confidence interval [95% CI] = 0.85 to 1.13), with isolated clefts (OR = 0.92) with isolated median cleft palate (OR = 1.03, 95% CI = 0.79 to 1.36) or with isolated cleft lip with or without cleft palate (OR = 0.86, 95% CI = 0.71 to 1.05). Reported use of multivitamins, folic acid, or B12 was not associated with a decrease in orofacial cleft risk (OR = 1.00, 95% CI = 0.63 to 1.52). ORs above 2 were seen for some drugs: sulfasalazine, naproxen, and anticonvulsants, but only a few exposed cases occurred. An association between glucocorticoid use and infant cleft was indicated and seemed to be strongest for median cleft palate. Conclusion Maternal drug use seems to play only a small role for the origin of orofacial clefts, at least in Sweden.


2006 ◽  
Vol 43 (5) ◽  
pp. 580-589 ◽  
Author(s):  
Margaret E. Cooper ◽  
Jessica S. Ratay ◽  
Mary L. Marazita

Objective: To determine the clefting birth prevalence among Asian populations, specifically Chinese and Japanese, using raw counts from nonoverlapping published studies of Asian populations, and to investigate whether Asian clefting rates have been interpreted accurately as being up to twice the Caucasian rate. Design: A literature review of articles giving raw counts of clefting in Asian populations, primarily Japanese and Chinese. Main Outcome Measures: Where possible, clefts were identified by the patients’ ethnicity, country of origin, cleft type, syndromic status, and birth status. Results: Prevalence rates of cleft lip with or without cleft palate per 1000 live births are reported. Syndromic plus nonsyndromic cleft lip with or without cleft palate: Chinese, 1.30; Japanese, 1.34; Other Asian, 1.47; and total, 1.33. Nonsyndromic cleft lip with or without cleft palate: Chinese, 1.20; Japanese, 1.18; Other Asian, 1.22; and total, 1.19. Conclusions: Overall, Chinese and Japanese live birth prevalence rates for nonsyndromic cleft lip with or without cleft palate, based on the published reports of birth prevalence, are significantly lower than the oft-quoted rate of 2 per 1000 for Asians. The apparent reason for the discrepancy is that many published prevalence rates included all pregnancies (live births plus pregnancy losses) and do not distinguish between syndromic and nonsyndromic clefts or between cleft palate alone and cleft lip with or without cleft palate. These results demonstrate that it is extremely important for current population-based studies of clefts to include careful delineation of population groups, syndromes, cleft type, and birth status.


2004 ◽  
Vol 41 (6) ◽  
pp. 609-612 ◽  
Author(s):  
F. Al Omari ◽  
I. K. Al-Omari

Objective and Design A retrospective investigation was conducted to determine the prevalence rate of Jordanian children born with oral clefts from 1991 to 2001. Setting Hospital surgical records from two main sources were used to identify all children born with orofacial clefting. Information about date of birth, sex, cleft types, and associated major anomalies and syndromes were recorded. Results The overall prevalence rate for live births with cleft lip, cleft palate, or both was 1.39 per 1000 live births. Thirty percent of the clefts identified affected the lip, 22 percent affected the palate, and 48 percent involved the clefts of the lip and palate. In general, higher prevalence rates were found for boys than girls (55% boys versus 45% girls). There was a statistically significant sex difference between the cleft types. Clefts of the isolated palate, however, were more common in girls. Eighteen percent of patients with cleft were associated with major anomalies or syndromes. Conclusions The reported prevalence rate for orofacial clefts among Jordanians is similar to the previously reported prevalence rate in white Caucasians. Results and future recommendations are discussed.


2015 ◽  
Vol 114 (9) ◽  
pp. 1456-1463 ◽  
Author(s):  
Trude Gildestad ◽  
Tone Bjørge ◽  
Stein Emil Vollset ◽  
Kari Klungsøyr ◽  
Roy Miodini Nilsen ◽  
...  

AbstractResults from previous studies on maternal folic acid intake and infant oral clefts are inconclusive. The aim of the present study was to investigate the association between women’s use of folic acid and/or multivitamin supplements and the risk for oral cleft in the newborn. We used data from the Medical Birth Registry of Norway based on all births in Norway from 1999 to 2013. A total of 528 220 women had 880 568 pregnancies, resulting in 896 674 live births and stillbirths, of which 1623 had oral clefts (isolated oral clefts, n 1311; non-isolated oral clefts, n 312). Altogether, 21·5 % of women were vitamin supplement users before pregnancy. The birth prevalence of oral clefts was 1·81/1000 live births and stillbirths. Relative risks (RR) were estimated with log-binomial regression. For pregnancies with maternal use of vitamins, the adjusted RR for clefts overall was 0·90 (95 % CI 0·79, 1·04). The adjusted RR for cleft palate only (n 586) was 0·84 (95 % CI 0·66, 1·06) and that for cleft lip with or without cleft palate (n 1037) was 0·94 (95 % CI 0·79, 1·13). Associations were stronger for cleft cases that occurred in combination with other malformations (adjusted RR 0·63; 95 % CI 0·45, 0·88), although vitamin supplements provided no protection against isolated clefts (adjusted RR 0·98; 95 % CI 0·84, 1·15). In conclusion, our study demonstrates no statistically significant association between vitamin use and isolated oral clefts. However, we found lower risk for oral clefts that occurred in combination with other malformations.


1998 ◽  
Vol 35 (4) ◽  
pp. 366-370 ◽  
Author(s):  
Gary M. Shaw ◽  
Cathy R. Wasserman ◽  
Jeffrey C. Murray ◽  
Edward J. Lammer

Objective We previously demonstrated a strong association between periconceptional maternal cigarette smoking, infant transforming growth factor–alpha (TGFa) genotype, and risk of orofacial clefts. Because serum folate may be decreased by cigarette smoking and because maternal periconceptional use of multivitamins containing folic acid has been associated with a reduced risk of clefting, we explored whether a potential relation existed between infant TGFa genotype, maternal multivitamin use, and risk of orofacial cleft phenotypes. Design Data were derived from a population-based case–control study of fetuses and live-born infants among a cohort of 1987 to 1989 California births (n = 548,844). Information concerning periconceptional multivitamin use was obtained via telephone interviews with mothers of 731 (84.7% of eligible) orofacial cleft case infants, and of 734 (78.2%) nonmalformed control infants. DNA was obtained from newborn screening bloodspots and genotyped for the Taq1 polymorphism of TGFa. Among infants of interviewed mothers, genotypes were available for 571 (78.1%) case infants and 640 (87.2%) control infants. Setting The study encompassed all hospitals in selected California counties. Main Outcome Measure The main outcome measures were the risks of specific cleft phenotypes among infants with uncommon TGFa genotypes and whose mothers did not use multivitamins periconceptionally. Results Compared with infants homozygous for the common TGFa genotype and whose mothers used multivitamins, increased clefting risks were observed for infants with the A2 genotype (homozygous or heterozygous) and whose mothers did not use multivitamins. Risk estimates were 3.0 (1.4–6.6 [95% confidence interval]) for isolated cleft lip with or without cleft palate (CLP), 2.4 (0.69–11.6) for multiple CLP, 2.6 (0.97–7.7) for isolated cleft palate (CP), 4.2 (1.3–16.2) for multiple CP, and 8.1 (2.6–27.7) for “known-syndrome” clefts. Clefting risks for infants with the A2 genotype and whose mothers used multivitamins were substantially smaller, as were the risks for infants with the A1 genotype whose mothers did not use multivitamins. Conclusion These data provide preliminary evidence for a gene–nutrient interaction in risk of clefting.


2008 ◽  
Vol 45 (2) ◽  
pp. 141-147 ◽  
Author(s):  
T. A. Gregg ◽  
A. G. Leonard ◽  
C. Hayden ◽  
K. E. Howard ◽  
C. F. Coyle

Objective: The prevalence of cleft lip and/or palate (CL/P) in Northern Ireland (NI) was last reported for 1980 through 1990. This study was undertaken to update the prevalence of CL/P in NI for the 20-year period 1981 to 2000, to determine the pattern of prevalence, and to report the proportion of different cleft types and sex distribution. Design: Retrospective, population-based analysis. Patients/participants: All live born children with CL/P in NI from 1981 to 2000 were included. A total of 750 cases were identified. Resident births outside NI, stillbirths, abortuses, and children born with atypical orofacial clefts were excluded. Those with syndromes and submucous clefts were included in the study. Results: The overall prevalence of children born with CL/P within NI for the period 1981 to 2000 was 1.47 per 1000 live births, or 1:682. This was consistent with the findings reported by other U.K. studies. There were no significant changes in the prevalence rates over any 5-year period. No significant seasonality trends were noted. Clefts of the palate only were always in the majority. More boys than girls were affected by cleft lip with or without cleft palate. There was a significant left-sided predilection for unilateral clefting of the lip. Conclusions: There have been no significant changes in the birth prevalence of children born with CL/P or the distribution or laterality of cleft type in the NI population during the past 20 years.


2008 ◽  
Vol 45 (5) ◽  
pp. 533-538 ◽  
Author(s):  
Rachael Fels Elliott ◽  
Goran Jovic ◽  
Massey Beveridge

Objective: To assess variations in seasonality and regional distribution of orofacial clefts in babies born in Zambia. Design: A retrospective chart review was done using records of all cleft procedures performed by the only plastic surgeon in Zambia (G.J.). Delivery data from the University Teaching Hospital (UTH) were also examined to estimate the birth prevalence of orofacial clefts (55,108 live births between 2001 and 2005). Patients: All cleft patients operated in Zambia from 2000 to 2006 (413 patients). Results: A low birth prevalence of clefts (1/4239 live births) was found using UTH delivery data. Surgical data showed no difference for the frequency of one gender over another overall (M:F ratio is 1.04; p  =  .70). More bilateral clefts occurred in cleft lip and palate (CLP) patients than in cleft lip (CL) patients (p < .01), and more unilateral left-sided clefts occurred in CL than in CLP patients (p  =  .03). The data reflected seasonal variation in month of birth of cleft lip with or without cleft palate (CL±P) patients (p < .01), with a peak in April and May and more births in March through August (57.2%) than in September through February (42.8%). There was regional variation in cleft births among the nine Zambian provinces (p < .01). Conclusions: This study shows seasonal variation in clefts that may be explained, at least in part, by environmental factors affecting the development of CL±P. Access to treatment is likely the major determinant of regional disparity in clefts. These results provide a basis for further epidemiological studies of orofacial clefts in Zambia.


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