Study of 1,26,266 consecutive births for major congenital defects.
TL;DR: The frequency of congenital defects was noted to decline with increasing maternal age, 21–25 years age group had maximum number of malformed babies, whereas cleft palate with/without hare lip had highest frequency during winter.
Abstract: Retrospective study was carried out in 1,15,851 consecutive births in five hospitals, and prospective study of 10,415 consecutive births in one hospital of West Bengal. The overall frequency of congenital defects was 4.42/1000 live births. Incidence of NTD and talipes was predominant in rainy season, whereas cleft palate with/without hare lip had highest frequency during winter. Incidence of these anomalies decreased with increasing birth order. The frequency was noted to decline with increasing maternal age, 21-25 years age group had maximum number of malformed babies. Sex ratio and religion, however, did not have any correlation with the incidence of these malformations. When comparison was done between urban and rural population no statistically significant variation was observed.
Citations
More filters
[...]
TL;DR: Both high maternal age and high paternal age were associated with cleft lip with or without cleft palate, but the contribution of each was dependent on the age of the other parent.
Abstract: Background—Some malformations are clearly associated with older maternal age, but the effect of older age of the father is less certain. The aim of this study is to determine the degree to which maternal age and paternal age independently influence the risk of having a child with oral clefts. Methods—Among the 1,489,014 live births in Denmark during 1973–1996, there were 1920 children with nonsyndromic cleft lip with or without cleft palate and 956 children with nonsyndromic cleft palate. We used logistic regression to assess the impact of parental age on the occurrence of cleft lip with or without cleft palate and cleft palate. Interaction between mother’s and father’s age was included in the analysis. Results—Separate analyses of mother’s and father’s age showed that older age was associated with increased risk of both cleft lip with or without cleft palate and cleft palate only. In a joint analysis, both maternal and paternal ages were associated with the risk of cleft lip with or without cleft palate, but the contribution of each was dependent on the age of the other parent. In the analysis of cleft palate only, the effect of maternal age disappeared, leaving only paternal age as a risk factor. Conclusion—Both high maternal age and high paternal age were associated with cleft lip with or without cleft palate. Higher paternal age but not maternal age increased the risk of cleft palate only. Oral cleft is one of the most common congenital malformations with prevalence between 1 and 2 per 1000 live births. 1 Family studies suggest that cleft lip with or without cleft palate and cleft palate only are etiologically distinct malformations. 2 The etiology of both defects is thought to be multifactorial with genes playing the major role. Several potential risk factors have been studied, but no strong risk factor has yet been identified. 3–5 Increased maternal age is a risk factor for both chromosomal 6 and nonchromosomal abnormalities. 7 There have been conflicting reports on whether older maternal or paternal ages are associated with risk of oral clefts. Only a few studies were conducted according to the recommendation of the International Consortium for Oral Clefts Genetics, 8 population-based, distinguishing between cleft lip with or without cleft palate and cleft palate only, and excluding cases with associated anomalies. Furthermore, few controlled for the age of the other parent, which is known to be correlated. Ascertaining whether older parental age is associated with oral cleft is not only of interest for clarifying the etiology of oral clefts, but is also important
119 citations
[...]
TL;DR: It is suggested that fathers forty years of age or older had a 58% higher probability of having a child with cleft palate compared to those aged between 20 and 39 years, and no evidence of association between early maternal and paternal age with occurrence of oral clefts was observed.
Abstract: Objectives A meta-analysis was conducted to assess the relationship between parental age and the occurrence of non-syndromic oral clefts. The questions addressed if younger or older mothers and fathers have an increased risk of having a child with non-syndromic oral clefts. Data Data from cohort studies, case-control, cross-sectional and prevalence studies in which the association between parental age and oral clefts was investigated were analysed. Only studies on oral clefts not associated with syndromes or other anomalies were considered. Sources An electronic literature search were conducted in Medline, Embase, LILACS, SciELO, SCOPUS and the Cochrane library databases to identify original research published until November 2010. References of the selected articles were also searched. Study selection The initial database search identified 4623 citations and according to eligibility criteria 80 articles were submitted to quality assessment. In 13 studies measures of association could be extracted for meta-analysis. Conclusion Our findings suggest that fathers forty years of age or older had a 58% higher probability of having a child with cleft palate compared to those aged between 20 and 39 years. The probability of mothers aged between 35 and 39 years having a child with cleft palate was 20% higher in comparison with those between 20 and 29 years-old, whilst for those aged 40 years or more this probability was 28% higher compared to those aged between 20 and 29 years. Mothers aged 40 years or over were 1.56 times more likely to have a newborn with cleft lip with or without palate compared to those aged between 20 and 29 years. No evidence of association between early maternal and paternal age with occurrence of oral clefts was observed.
79 citations
[...]
TL;DR: Congenital malformations were studied prospectively from September 1989 to December 1992 covering 12,797 consecutive deliveries and musculoskeletal, cutaneous and genitourinary mal Formations were common among live born babies while central nervous system and gastrointestinal defects wereCommon among still born babies.
Abstract: Congenital malformations were studied prospectively from September 1989 to December 1992 covering 12,797 consecutive deliveries. The overall incidence of malformations was 3.7% and it was 3.2% among live births and 15.7% among still births. Three hundred and ninety seven birth defects were observed among 308 live births and 72 among 45 still births. The incidence of malformation was significantly higher among male babies (p <0.001), still births (p < 0.001), low birth weights (p < 0.001) and preterm babies (p < 0.001). Consanguinity among parents of malformed babies was more common (p < 0.001). Musculo-skeletal malformations were the commonest (9.69 per 1000) followed by cutaneous (6.33 per 1000), genitourinary (5.47 per. 1000), gastrointestinal (5.47 per 1000), central nervous system (3.99 per 1000) and cardiac anomalies (2.03 per 1000). Musculoskeletal, cutaneous and genitourinary malformations were common among live born babies while central nervous system and gastrointestinal defects were common among still born babies. Antenatal infections and ingestion of drugs were not found to be significant factors in the causation of birth defects.
58 citations
[...]
TL;DR: A systematic review aimed to understand the birth prevalence of clubfoot in LMIC settings.
Abstract: Objective
Congenital talipes equinovarus (CTEV), or clubfoot, is a structural malformation that develops early in gestation. Birth prevalence of clubfoot is reported to vary both between and within low- and middle-income countries (LMICs), and this information is needed to plan treatment services. This systematic review aimed to understand the birth prevalence of clubfoot in LMIC settings.
Methods
Six databases were searched for studies that reported birth prevalence of clubfoot in LMICs. Results were screened and assessed for eligibility using pre-defined criteria. Data on birth prevalence were extracted and weighted pooled estimates were calculated for different regions. Wilcoxon rank-sum test was used to examine changes in birth prevalence over time. Included studies were appraised for their methodological quality, and a narrative synthesis of findings was conducted.
Results
Forty-eight studies provided data from 13 962 989 children in 20 countries over 55 years (1960–2015). The pooled estimate for clubfoot birth prevalence in LMICs within the Africa region is 1.11 (0.96, 1.26); in the Americas 1.74 (1.69, 1.80); in South-East Asia (excluding India) 1.21 (0.73, 1.68); in India 1.19 (0.96, 1.42); in Turkey (Europe region) 2.03 (1.54, 2.53); in Eastern Mediterranean region 1.19 (0.98, 1.40); in West Pacific (excluding China) 0.94 (0.64, 1.24); and in China 0.51 (0.50, 0.53).
Conclusion
Birth prevalence of clubfoot varies between 0.51 and 2.03/1000 live births in LMICs. A standardised approach to the study of the epidemiology of clubfoot is required to better understand the variations of clubfoot birth prevalence and identify possible risk factors.
52 citations
[...]
TL;DR: The overall prevalence of neural tube defects from India is high compared to other regions of the world, while that of orofacial clefts is similar to other countries.
Abstract: Background In the last two decades, India has witnessed a substantial decrease in infant mortality attributed to infectious disease and malnutrition. However, the mortality attributed to birth defects remains constant. Studies on the prevalence of birth defects such as neural tube defects and orofacial clefts in India have reported inconsistent results. Therefore, we conducted a systematic review of observational studies to document the birth prevalence of neural tube defects and orofacial clefts.
47 citations
Cites background from "Study of 1,26,266 consecutive birth..."
[...]
[...]
[...]
[...]
References
More filters
Journal Article•
[...]
TL;DR: A report is presented of a study of births in 24 centers in 16 countries with respect to the occurrence and type of ciongenital malformations found in still born and liveborn infants, where there is a marked association between consanquinity of parents with increases stillbirth rates and frequency of early death of an infant.
Abstract: A report is presented of a study of births in 24 centers in 16 countries with respect to the occurrence and type of ciongenital malformations found in still born and liveborn infants. In all the outcomes of 421781 pregnancies were investigated (416695 single births 5022 sets of twins 63 sets of triplets and 1 set of quadruplets). The frequencies of malformations of specific types or of groups of malformations are considered with particular reference to geographical variations and associations with consanquinity of parents. The evidence relating to clinical and etiological heterogeneity is considered as well as that of the genetic contribution to congenital malformations and perinatal mortality. The data are presented in considerable detail in tables and in addition there is available on request to the authors a 400 page companion booklet of basic tables for each center. Among the findings of particular interest are the following. The large contribution of neural tube defects to fetal wastage in most countries and the significant correlations of frequencies of these defects over the 24 recording centers are noted. There is un unexplained correlation in frequency between neural tube defects and dizygous twinning. There is a marked association between consanquinity of parents with increases stillbirth rates and frequency of early death of an infant these frequencies being highest where parents are most closely related. There has also been demonstrated that malformations known to be due to the expression of a single recessive gene mutations are ignored consanquinity of parents is demonstrably associated in these data with neutral tube defect frequencies only. A number of interesting observations either novel or confirmatoryof views derived from different approaches emerge in respect of specific groups of malformations. This is so particularly with respect to harelip and cleft palate malformations of the gut malformations of the urogential tract and multiple malformations occurring in the same child. The findings concerning twin births are of interest in light of the relative contributions of monozygous and dizygous pairs to the total variance of twinning frequencies in different centers. Estimates are made of the effects of monozygosity on infant survival and on the occurrence of malformations. (authors modified)
251 citations
[...]
TL;DR: A sentinel phenotype is a clinical disorder or syndrome that occurs sporadically as a consequence of a single, highly penetrant mutant gene, and is a dominant or X-linked trait of considerable frequency and low fitness as discussed by the authors.
Abstract: A sentinel phenotype is a clinical disorder or syndrome that (1) occurs sporadically as a consequence of a single, highly penetrant mutant gene, (2) is a dominant or X-linked trait of considerable frequency and low fitness, and (3) is uniformly expressed and accurately diagnosable with minimal effort at or near birth. Although 1828 autosomal dominant traits are known in human beings, 36 can be considered as candidate sentinel phenotypes, along with 5 X-linked disorders. Based on surveys of malformations in infants and children, 16 additional traits are proposed beyond previous lists. In Hungary, the 24 syndromes or defects with reliable manifestations in newborn infants occur with a frequency of 2.5-3.3 per 10 000 live births. As markers of human mutations, sentinel phenotypes have the advantage of representing germinal mutations that result in significant health problems. There are severe disadvantages that have, to date, prevented the launching of a field demonstration of the value of these phenotypes in mutation epidemiology. Agreement on a list of phenotypes has been delayed by continued recognition of two or more distinct genetic diseases within what was once thought to be a single disorder. For the same reason, most of the candidate sentinel phenotypes have not been assigned unique codes in the International Classification of Diseases. Each of the disorders is so rare and has features that overlap with so many other syndromes that highly trained clinical dysmorphologist and pediatric ophthalmologists would have to be engaged in any study. The sentinel phenotype approach, like other strategies in mutation epidemiology, would encounter problems with linkage among files of data, privacy, and access to sufficiently large populations. In contrast with the approach using multiple protein variants (as in the study of blood from offspring of survivors of the atomic bombs in Hiroshima and Nagasaki), the sentinel phenotype approach would likely be much less expensive and would encounter far fewer false attributions of paternity, but also would require a much larger study population. The best option for the present, in our opinion, is to broaden and sustain critical discussion of the approach. Perhaps the goal should be to plan a field demonstration by involving appropriate clinicians, epidemiologists, and public health officials. A pilot effort underway in Hungary may well give insight to applying the approach in a significantly larger population.
49 citations
[...]
TL;DR: The Hungarian Congenital Malformation Registry, 1980-1984 was used to detect sentinel malformation in Hungarian children as discussed by the authors, and the revised total observed prevalence of 25 sentinel anomalies was 3.80 per 10000 live births.
Abstract: Sentinel phenotypes are indicators of germinal dominant gene mutations. 23 sentinel abnormalities and 2 sentinel childhood tumours (bilateral retinoblastoma and Wilms' tumour), i.e., 25 sentinel anomalies of autosomal dominant origin were selected from the material of the Hungarian Congenital Malformation Registry, 1980–1984. Furthermore, cases of sentinel childhood tumours from the Hungarian Childhood Tumour Registry and some extra notifications of sentinel abnormalities were also included. Experts examined index patients and their parents in order to confirm or exclude nosological diagnosis, to separate sporadic and familial cases, to obtain environmental history and to give genetic counselling. The revised total observed prevalence of 25 sentinel anomalies was 3.80 per 10000 livebirths. Only 12% of cases examined were familial. According to the statistical power calculation, 47 500 livebirths are needed to detect a doubling of mutation rate with probabilities of type I and II errors of 0.05 level. In Hungary the average number of yearly births was 135 548 in the study period.
20 citations
[...]
TL;DR: A survey of the congenitally anomalous babies revealed the incidence to be 2.08% at birth in 1774 births from 1736 mothers who delivered in Banaras Hindu University Hospital during a period of 12 months (1978–79).
Abstract: A survey of the congenitally anomalous babies revealed the incidence to be 2.08% at birth in 1774 births from 1736 mothers who delivered in Banaras Hindu University Hospital during a period of 12 months (1978–79). The congenital anomalies were significantly more (p< 0.01) in still borns (6.6%) as compared to live borns (1.9%). Of the 32 live born anomalous babies, 34% were premature. A marked geographical difference in the incidence of malformed babies from East to West was noted (0.31% to 3.6%). The musculoskeletal system was most frequently involved followed by gastrointestinal system and C.N.S. Various factors like mother’s age, parity, sex of the newborn, parents’ socioeconomic status and prematurity, in relation to incidence of malformation are discussed.
17 citations