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Defects Registry (defects + registry)

Distribution by Scientific Domains

Life Sciences	76%
Medical Sciences	23%

Kinds of Defects Registry

birth defects registry

Selected Abstracts

Primary prevention of neural tube defects with folate in Western Australia: the value of the Western Australian Birth Defects Registry

CONGENITAL ANOMALIES, Issue 2 2006
Carol Bower
ABSTRACT This paper reviews the role of the Western Australian Birth Defects Registry in the primary prevention of neural tube defects. The Registry provides complete and up-to-date information on all neural tube defects (NTD), including terminations of pregnancy. These data have been used to determine a baseline rate of NTD and to monitor trends in NTD over time, when health promotion of folic acid supplement use and voluntary fortification of food with folate were introduced. The register has also been used to investigate NTD in special populations (Indigenous infants in Australia) and as a sampling frame for case control studies. The data derived from these studies have been used to assist in assessing whether mandatory food fortification in Australia is indicated to prevent NTD. [source]

Ascertainment of birth defects: The effect on completeness of adding a new source of data

JOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 6 2000
C Bower
Background: The Western Australian (WA) Birth Defects Registry aims for complete ascertainment of birth defects in WA, but the proportions of birth defects in rural areas and in Aboriginal children are lower than in metropolitan and non-Aboriginal children. The effect on ascertainment of adding data from the Rural Paediatric Service (RPS) was investigated. Method: A file of all cases of birth defects for children born 1980,1997 and recorded on the RPS database was linked to the Registry. Results: The addition of this new data source had little effect on the overall prevalence of birth defects (an increase from 5.38 to 5.41%). There was a slightly greater effect on the prevalence of birth defects in rural residents (4.67%,4.76%) and Aboriginal children (4.55,4.78%), although the prevalence for each of these groups is still less than for metropolitan residents and non-Aboriginal infants, respectively. All major categories of birth defects were represented in the new cases and, in general, their addition made little difference to the prevalence of each category. The exception was fetal alcohol syndrome, which increased from 0.13 per 1000 to 0.18 per 1000 once the 21 new cases from the RPS were added. Conclusion: Complete ascertainment of birth defects is important in developing and evaluating preventive programs, and in investigating clusters of birth defects. [source]

Gastroschisis: Early enteral feeds may improve outcome

JOURNAL OF PAEDIATRICS AND CHILD HEALTH, Issue 5 2000
M Sharp
Objective: Population-based retrospective review of gastroschisis from 1986 to 1996. Methods: This was a retrospective review of gastroschisis. Seventy cases were identified from the Birth Defects Registry of Western Australia (WA). Hospital medical records of live-born cases were reviewed. Results: The live-born incidence of gastroschisis in WA was 2.1 per 10 000 live births for the period 1986,96. The incidence in mothers aged less than 20 years was 8.3-fold that of women aged over 30 years (P < 0.0001). The incidence rate for the period 1995,96 was over twice the rate for 1986,88. Age at first enteral feed was significantly related with length of hospital stay and duration of total parental nutrition (TPN). Each day delay in commencing enteral feed was associated with an increase in hospital stay of 1.05 days and an increase in TPN duration of 1.06 days. The method of delivery of the infant, age at repair, length of anaesthetic time, duration of postoperative paralysis and gestational age was not associated with length of stay or TPN duration. The data were divided into two cohorts: (i) 1986,90; and (ii) 1991,96. There was a statistically significant reduction in hospital stay from a geometric mean of 45.7 (1986,90) to 22.9 days (1991,96). Conclusions: Gastroschisis has a favourable outlook, with 89.7% survival of live births. Over the 10 year period studied, there has been a reduction in length of hospital stay and duration of TPN. The age at which the infant is first fed enteral feeds appears to be important in affecting the length of hospital stay and the duration of TPN, with delays associated with a longer hospital stay and longer TPN duration. [source]

Maternal diabetes and renal agenesis/dysgenesis,,

BIRTH DEFECTS RESEARCH, Issue 9 2010
Erin M. Davis
Abstract BACKGROUND: Renal agenesis and dysgenesis are potentially lethal congenital malformations affecting 2 to 5 infants per 10,000 live births annually in the United States. The low prevalence of these malformations has complicated understanding of potential risk factors. Maternal diabetes (type 1, type 2, and gestational) has been evaluated extensively as a risk factor for other congenital malformations, but only a limited number of studies have assessed the association between diabetes and renal agenesis. METHODS: We conducted a population-based case-control study of deliveries after 20 weeks gestation in Texas Health Service Region 6 (Houston/Galveston area) from January 1, 2000 to December 31, 2002. Cases of renal agenesis/dysgenesis (n = 89) were ascertained from the Texas Birth Defects Registry. Cumulative incidence sampling was used to randomly select, from birth and fetal death records, 356 controls frequency matched to cases by delivery year and vital status. Maternal diabetes and other covariates were collected from vital records. RESULTS: The odds of renal agenesis/dysgenesis were 3.1 (95% confidence interval [CI], 1.1,9.3) times greater among deliveries of mothers with diabetes compared to deliveries of mothers without diabetes, controlling for matching factors. CONCLUSIONS: Our results are consistent with prior, but limited, research identifying diabetes as a risk factor for renal agenesis/dysgenesis. While these data did not differentiate diabetes diagnoses by type, the results suggest that maternal diabetes may be associated with renal malformations. Further study is warranted. Birth Defects Research (Part A), 2010. © 2010 Wiley-Liss, Inc. [source]

Descriptive epidemiologic features shared by birth defects thought to be related to vascular disruption in Texas, 1996,2002,

BIRTH DEFECTS RESEARCH, Issue 6 2008
Tasneem Husain
Abstract BACKGROUND:In utero vascular disruptions are thought to be associated with a variety of birth defects. This study examined the descriptive epidemiology of several of those defects using data from a large birth defects registry. METHODS: Data on birth defects ascertained from pregnancies in 1996,2002 were obtained from the Texas Birth Defects Registry. Using Poisson regression, we calculated crude and adjusted associations between maternal and infant characteristics and birth defects thought to be related to vascular disruption. We repeated the analysis using isolated cases and cases occurring in mothers <20 years. RESULTS: The most commonly shared pattern was observed for plurality and five defects: large intestinal atresia (PR 3.67; CI: 1.63,7.13), renal agenesis (PR 2.05; CI: 1.55,2.65), transverse limb deficiency (PR 1.85; CI: 1.28,2.57), porencephaly (PR 5.18; CI: 2.40,9.87), and Goldenhar syndrome (PR 3.45; CI: 1.04,8.53). Hispanics had the highest prevalence of gastroschisis (PR 1.21; CI: 1.05,1.40), transverse limb deficiency (PR 1.19; CI: 1.01,1.40), microtia/anotia (PR 2.22; CI: 1.83,2.70), and Poland anomaly (PR 1.90; CI: 1.26,2.93). Male infants were at greatest risk for renal agenesis (PR 1.58; CI: 1.40,1.80), porencephaly (PR 1.66; CI: 1.03,2.72), and Poland anomaly (PR 1.52; CI: 1.05,2.21). CONCLUSIONS: Our study confirmed findings in previous studies, but also uncovered several new associations. Birth Defects Research (Part A), 2008. © 2008 Wiley-Liss, Inc. [source]

Mortality throughout early childhood for Michigan children born with congenital anomalies, 1992-1998,

BIRTH DEFECTS RESEARCH, Issue 9 2003
Katherine H. Berger
BACKGROUND Congenital anomalies are a leading cause of infant deaths, accounting for almost a fifth of all infant deaths. Few studies have researched the survival experience of infants born with congenital anomalies past the infant stage. METHODS Using birth and death files routinely linked to the Michigan Birth Defects Registry, we identified all singleton infants during calendar years 1992 through 1998 with reportable congenital anomalies for our study. A comparative file of children born without congenital anomalies during the same time period was developed using linked birth and death files. The mortality data were assessed by age at death (through age six) and race to determine mortality rates, relative risks, hazard ratios, and survival trends. RESULTS Throughout early childhood, children born with congenital anomalies had a high risk of mortality compared with all other children. The overall 7-year hazard ratio comparing children with congenital anomalies with all other children was 7.2. Overall mortality rates for black children were significantly higher than white children through the age of seven, irrespective of whether they had congenital anomalies. Among children with congenital anomalies, this disparity disappeared after adjusting for birth weight, sex, mother's age, mother's education, and number of organ systems affected. CONCLUSIONS Compared with children without congenital anomalies, children born with congenital anomalies had a higher risk of mortality well beyond the infant period. Racial disparities in mortality rates among children with congenital anomalies were due to confounding factors. Birth Defects Research (Part A) 67656,661, 2003. © 2003 Wiley-Liss, Inc. [source]

Epidemiology underpinning research in the aetiology of orofacial clefts,

ORTHODONTICS & CRANIOFACIAL RESEARCH, Issue 3 2007
Peter Mossey
Structured Abstract Author,,, Mossey P Introduction,,, Epidemiological information gathered through birth defects surveillance is an important adjunct to carrying out clinical and aetiological research. Information on the incidence in the population, causative risk factors and providing baseline data prior to intervention are all important elements. Under the auspices of the World Health Organisation, it was agreed that a global registry and database on craniofacial anomalies should be created and this, the International Database on Craniofacial Anomalies (ICDFA) was designed to gather information on craniofacial abnormalities from existing birth defects registries and databases around the world to become a resource underpinning research. There are currently 62 registries covering 2 million births per year contributing to a database along with information on the size and type of studies used to collect the information, any variation in ascertainment and on the inclusion of syndromes and associated abnormalities. Generation of hypotheses,,, From the epidemiological data collected it is possible to carry out meta-analysis and to search for trends and consistencies in the data that enable hypothesis to be generated. Issues such as geographical distribution, ethnicity, gender, associated abnormalities and clefts in stillbirths can all be examined in a meta-analytical approach. Collection of information on risk factors such as maternal illnesses, medications, lifestyle factors, nutrition and perhaps occupational exposures enables investigation into environmental contribution to causality and genetic predisposition. A range of techniques are currently being used to identify new candidate genes and ultimately it will be necessary to test genetic and environmental hypothesis in the context of human population studies. Conclusions,,, It is only by consistency of association between different populations with different gene pools and maternal exposures, lifestyles, nutrition etc that conclusive evidence regarding causality will be found. It is therefore essential, and a major objective of the WHO that international multicentre collaborative studies are setup to gather the appropriate evidence and improve knowledge and the cause of birth defects in general and orofacial clefts in particular, with the ultimate humanitarian and scientific objective of the WHO being primary prevention. Clinical utility and implications,,, This IDCFA project fulfils three basic objectives namely to enable global surveillance of CFA; to create online access to those who wish to contribute to the IDCFA, and to develop an online directory of resources on craniofacial anomalies for the support of research and improving quality of care. The next sttif for IPDTOC are to expand the number of participating registries and to actively collect data on other craniofacial birth defects. [source]

Patterns of chromosomal deletions identified by a birth defects registry, Hawaii, 1986,2003

CONGENITAL ANOMALIES, Issue 2 2007
Mathias B. Forrester
ABSTRACT The aim of the investigation was to describe the chromosomal deletions identified by a birth defects registry with respect to the chromosomes involved, pregnancy outcome, method of diagnosis, inheritance, sex, and the diagnosis of major structural birth defects. Cases were derived from a population-based birth defects registry in Hawaii and comprised all infants and fetuses with chromosomal deletions delivered during 1986,2003. A total of 71 cases were identified through a statewide birth defects registry in Hawaii during 1986,2003. The chromosomes involved in the greatest proportion of deletions were chromosomes 22 (14.1%), 4 (11.3%), and 5 (11.3%). Live births accounted for 58 (81.7%) of the cases. Diagnosis was made by amniocentesis or chorionic villus sampling in 19 (26.8%) of the cases. Of the 18 cases with known inheritance, the deletion was inherited in 5 (27.8%) and de novo in 13 (72.2%). Males accounted for 28 (39.4%) and females for 43 (60.6%) of the cases. Major structural birth defects were identified in 51 (71.8%) of the cases. Chromosomal deletions do not appear to affect all chromosomes equally. Most of the chromosomal deletions that were detected occurred among live births and were de novo conditions. Infants and fetuses with chromosomal deletions are more likely to be females and to be associated with major structural birth defects. [source]

Descriptive epidemiology of anotia and microtia, Hawaii, 1986,2002

CONGENITAL ANOMALIES, Issue 4 2005
Mathias B. Forrester
ABSTRACT The objective of this investigation was to describe the epidemiology of anotia and microtia with respect to various factors. The cases studied were all infants and fetuses with anotia or microtia identified by a population-based birth defects registry in Hawaii. The anotia and microtia rates were determined for selected factors and comparisons made among the subgroups by calculating the rate ratio (RR) and 95% confidence interval (CI). A total of 120 cases were identified, for a rate of 3.79 per 10 000 live births. The anotia and microtia rate increased during 1986,2002, although the trend was not significant (P = 0.715). Of 49 specific structural birth defects examined, four were found to be significantly more common in the presence of anotia and microtia. When compared with Caucasians, the anotia and microtia rates were higher among Far East Asians (RR 1.79, 95% CI 0.89,3.68), Pacific Islanders (RR 2.26, 95% CI 1.24,4.32), and Filipinos (RR 2.34, 95% CI 1.23,4.64). The defects were less common among females (RR 0.64, 95% CI 0.43,0.93) and more common with multiple birth (RR 3.72, 95% CI 1.66,7.33), birth weight <,2500 g (RR 3.35, 95% CI 2.04,5.30), and gestational age <38 weeks (RR 2.27, 95% CI 1.49,3.40). In conclusion, the rate for anotia and microtia increased in Hawaii during the study period. The rates for only a few structural birth defects were substantially greater than expected in association with anotia and microtia. Anotia and microtia rates varied significantly according to maternal race/ethnicity, infant sex, plurality, birth weight, and gestational age. [source]

Descriptive epidemiologic features shared by birth defects thought to be related to vascular disruption in Texas, 1996,2002,

Pregnancy outcome distribution and prenatal diagnosis of autosomal abnormalities, Hawaii, 1986-1999

BIRTH DEFECTS RESEARCH, Issue S1 2002
Mathias B. Forrester
Background Approximately 10% of birth defects result from chromosomal abnormalities. This study investigated the pregnancy outcome distribution of autosomal abnormalities and impact of prenatal diagnosis on autosomal abnormalities. Methods Data were obtained from a population-based birth defects registry and included all autosomal abnormalities delivered in Hawaii during 1986-1999. Results There were 1,015 autosomal abnormality cases, consisting of 523 (52%) live births, 38 (4%) late fetal deaths, 187 (18%) early fetal deaths, 265 (26%) elective terminations, and 2 unknown pregnancy outcome. Live births comprised the majority of translocations (81%), inversions (93%), and deletions (84%) but a smaller proportion of trisomies (42%). Autosomal abnormalities were prenatally diagnosed in 489 (48%) of the cases, of which 243 (50%) were subsequently electively terminated. By type of autosomal abnormality, prenatal diagnosis rates were trisomy (44%), translocation (68%), inversion (91%), deletion (29%), and subsequent elective termination rates were trisomy (73%), translocation (11%), inversion (4%), deletion (50%). The prenatal diagnosis rate was higher for maternal age 35 years or greater than for maternal age less than 35 years (relative risk (RR) 1.8, 95% confidence interval (CI) 1.6-2.0), as was the elective termination rate (RR 1.3, 95% CI 1.1-1.6). The prenatal diagnosis rate was higher in 1993-1999 than in 1986-1992 (RR 1.2, 95% CI 1.1-1.4), although there was no statistically significant difference between the two time periods for subsequent elective termination rate (RR 0.9, 95% CI 0.8-1.1). Conclusions Pregnancy outcome distribution, prenatal diagnosis rates, and subsequent elective terminations rates vary by type of autosomal abnormality. Teratology 66:S7,S11, 2002. © 2002 Wiley-Liss, Inc. [source]