Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “birth defect”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 91 records · Page 5Linked to original sources
PubMed1994

[Maternal drinking and smoking and the risk of birth defects].

Maternal drinking or smoking and the risk of birth defects was studied in a case-control study, performed on 1,789 babies, born between 1990 and 1992 in the Tokai University hospital, and their mothers. The findings were as follows: The proportion of maternal drinking before or during pregnancy was higher in the mothers of children with birth defects (odds ratio 2.2; 95% confidence intervals 0.5-8.9). However, this difference was not statistically significant. Maternal smoking, defined as 11 or more cigarettes per day before pregnancy, was 13.5% in the mothers of children with birth defects, compared to 6.7% in the mothers of controls (odds ratio 2.2; 95% CI 0.6-7.4). This difference was not statistically significant. A total of 78 classified deformities were reported in the 52 children with birth defects, of which 24.4% were associated with maternal drinking and 16.7% were associated with maternal smoking, respectively. A significant association was found between premature birth and mothers who reported drinking during pregnancy (odds ratio 3.3 95% CI 1.1-10.9). The frequency of spontaneous abortion was higher among mothers who reported both drinking and smoking during pregnancy. In addition the frequency of complications during pregnancy was higher. Analysis of factors related to birth defects showed that the risk for birth defective infants was higher for mothers above 35 years of age than for those under 35 (p < 0.05). This study supports an association between maternal drinking during pregnancy and infant birth defects, but does not implicate maternal smoking because the number of mothers who smoked during pregnancy was too small to be of significance.

Adult↗
PubMed1999

Consanguinity and recurrence risk of birth defects: a population-based study.

Recurrence risks give insight into the causes of birth defects and are useful in genetic counseling. There are few population-based studies of recurrence of birth defects for subsequent sibs with consanguineous parents. The aim of this study was to estimate and compare the recurrence risk of birth defects for offspring of first cousins and nonconsanguineous parents. The study population consisted of all single births with a previous sib born in Norway between 1967 and 1995. Altogether 660,398 children had nonconsanguineous parents, and 3,583 had parents who were first cousins. For nonconsanguineous parents the risk of a birth defect for the subsequent sib was 15 per 1,000 births (95% confidence interval: 14.5-15.1) if the previous child did not have a birth defect and 33 (95% confidence interval: 30-37) if the previous child had a birth defect. For parents who were first cousins the risk of a birth defect for the subsequent sib was 36 per 1,000 (95% confidence interval: 30-42) if the previous child did not have a birth defect and 68 (95% confidence interval: 33-122) if the previous child had a birth defect. The risk of recurrence of birth defects is higher for subsequent sibs with first-cousin parents than for those with nonconsanguineous parents. This difference indicates the degree to which the increased homozygosity among offspring of consanguineous parents influences the risk of recurrence of birth defects.

Age Factors↗
PubMed2004

Intrauterine infections and birth defects.

Intrauterine infection is an important cause of some birth defects worldwide. The most common pathogens include rubella virus, cytomegaloviurs, ureaplasma urealyticum, toxoplasma, etc. General information about these pathogens in epidemiology, consequence of birth defects, and the possible mechanisms in the progress of birth defects, and the interventions to prevent or treat these pathogens' infections are described. The infections caused by rubella virus, cytomegaloviurs, ureaplasma urealyticum, toxoplasma, etc. are common, yet they are proved to be fatal during the pregnant period, especially during the first trimester. These infections may cause sterility, abortion, stillbirth, low birth weight, and affect multiple organs that may induce loss of hearing and vision, even fetal deformity and the long-term effects. These pathogens' infections may influence the microenvironment of placenta, including levels of enzymes and cytokines, and affect chondriosome that may induce the progress of birth defect. Early diagnosis of infections during pregnancy should be strengthened. There are still many things to be settled, such as the molecular mechanisms of birth defects, the effective vaccines to certain pathogens. Birth defect researches in terms of etiology and the development of applicable and sensitive pathogen detection technology and methods are imperative.

Animals↗
PubMed2000

Birth defects in children with newborn encephalopathy.

This study was designed to investigate birth defects found in association with newborn encephalopathy. All possible birth defects were ascertained in a population-based study of 276 term infants with moderate or severe encephalopathy and 564 unmatched term control infants. A strong association between birth defects and newborn encephalopathy was found with defects affecting 27.5% of children with encephalopathy and 4.3% of control children (odds ratio 8.55; 95% confidence interval 5.25 to 13.91;p<0.001). In 11.8% of infants with a birth defect the defect was not diagnosed until after the newborn period, illustrating one of the difficulties in attempting to exclude infants with birth defects from studies of newborn encephalopathy. The majority of defects (89%) were not specific anomalies of the CNS. In 36.8% of children with encephalopthy who had a birth defect, the defect was considered to be the probable cause of the encephalopathy. Infants with birth defects who had encephalopathy had a poorer prognosis than those without: they were twice as likely to die by the age of 2 years and three times more likely to have cerebral palsy. This study catalogues the spectrum of birth defects associated with newborn encephalopathy and illustrates the importance of their inclusion when investigating both the aetiology and outcome of this condition.

Abnormalities, Multiple↗
PubMed2003

Risk of mental retardation among children born with birth defects.

BACKGROUND: A paucity of epidemiologic research exists concerning the co-occurrence of birth defects and mental retardation (MR). Study of this co-occurrence may yield important clues about the causes of both. OBJECTIVE: To examine the co-occurrence of birth defects and MR, taking into consideration the type of birth defect, level of MR, co-occurrence of MR with other developmental disabilities, and individual and maternal factors. DESIGN: A retrospective cohort study of infants born in the California Central Valley with and without a structural birth defect by 1 year of age, and with or without MR by 7 to 9 years of age. SETTING AND PARTICIPANTS: One-year survivors (N = 119 556) born in nonmilitary hospitals in 8 California counties between January 1, 1992, and December 31, 1993, for whom information about birth defects was recorded within the first year of life. MAIN OUTCOME MEASURE: Diagnosis of MR by age 7 years considered as being mild or severe and as occurring without other developmental disabilities (isolated MR) or as occurring with other developmental disabilities, including cerebral palsy, epilepsy, or a pervasive developmental disorder. RESULTS: Children with birth defects were nearly 27 times more likely to have MR by 7 years of age compared with children without a diagnosed birth defect regardless of type of defect (prevalence ratio, 26.8; 95% confidence interval, 22.7-31.7). Among those with birth defects, children with Down syndrome (prevalence ratio, 211.7; 95% confidence interval, 171.3-261.5) and children with sex chromosomal defects (prevalence ratio, 57.4; 95% confidence interval, 23.7-138.6) were at the highest risk for MR. Children with nonchromosomal defects, including central nervous system defects and all types of organ and system defects, were at substantially increased risk for all levels of MR. Risks of MR among children with Down syndrome and nonchromosomal defects were not substantially altered when adjusted for individual and maternal factors. CONCLUSIONS: Children with chromosomal and other structural birth defects are at a substantially increased risk for having MR by 7 years of age compared with children born without a birth defect. Children with birth defects are at an especially increased risk for having severe MR and MR occurring independently of other developmental disabilities.

California↗
PubMed2006

Feasibility of using the national hospital discharge survey to estimate the prevalence of selected birth defects.

BACKGROUND: Nationally representative data on the prevalence of certain birth defects are largely unavailable. We evaluated the feasibility of using data from the National Hospital Discharge Survey (NHDS) to describe the prevalence of selected birth defects. METHODS: All live births recorded in the NHDS during 1999-2001 were included. The prevalence for selected birth defects was calculated using weighted ratio estimators. Prevalence ratios comparing the NHDS estimates to published national estimates from the National Birth Defects Prevention Network (NBDPN) were calculated. RESULTS: With the exception of common truncus, the NHDS prevalence for the selected defects was consistently lower than the NBDPN estimates. The prevalence ratios ranged from 0.38 for trisomy 18 and anopthalmia/micropthalmia to 1.16 for common truncus. The NHDS prevalence estimates for spina bifida without anencephaly (PR 0.89, 95% CI: 0.57-1.22) and gastroschisis/omphalocele (PR 0.94, 95% CF: 0.48-1.40) most closely approximated the NBDPN estimates. CONCLUSIONS: NHDS data underestimate the prevalence of most birth defects. Additional research is needed to determine whether NHDS estimates may be useful for evaluating trends in certain conditions. Surveillance systems employing active case-finding continue to provide more accurate estimates of birth defects prevalence.

Congenital Abnormalities↗
PubMed2003

Estimating prevalence of fetal alcohol syndrome (FAS): effectiveness of a passive birth defects registry system.

BACKGROUND: Fetal alcohol syndrome (FAS) is a preventable birth defect, easiest to recognize in children two through eleven years and more difficult to recognize in newborns. In New York State, two systems ascertain FAS cases, the statewide birth defects registry and the Fetal Alcohol Syndrome Surveillance Network (FASSNet) system. The accuracy of FAS reports to the birth defects registry was assessed through a comparison with the FASSNet system. METHODS: The birth defects registry mandates reporting up to age two, including FAS with an ICD-9 code of 760.71. FASSNet is a population-based, multi-source surveillance and uses a standard definition to determine FAS case status. RESULTS: Among 33 children reported to the registry with FAS, 19 (58%) met FASSNet criteria for FAS. FASSNet identified 24 additional children with FAS facial features documented before the child's second birthday that should have been reported to the birth defects registry. FAS prevalence rate for the birth defects registry was 0.28 per 1,000 live births but would have been 0.37 if all children diagnosed before age two were included. CONCLUSIONS: Almost 60% of children reported to a birth defects registry with FAS from 1995 to 1998 were confirmed as FAS based on a more intensive surveillance. Additional children with FAS were not reported to the CMR. FAS prevalence calculated from birth defects registries, relying on the ICD-9 code 760.71, include false positives and underestimate the true prevalence. Age limits for reporting FAS to registries further contribute to under ascertainment.

Abnormalities, Drug-Induced↗
PubMed1999

Birth defects: prevention of neural tube defects by periconceptional use of folic acid and screening.

Folate deficiency is one of today's most common vitamin deficiencies in women. Women who consume a low level of folate during pregnancy are at risk for poor pregnancy outcomes including birth defects. Birth defects are the leading cause of fetal and infant deaths throughout the world. Neural tube defects comprise a major portion of the birth tube defects. Neural tube defects are common and serious malformations that originate early in pregnancy. Each year in the US, about 4000 babies are born with these two most common neural tube defects, spina bifida and anencephaly. Spina bifida is the leading cause of childhood paralysis. Several studies showed that about 70% of the neural tube defects could be prevented if all women capable of becoming pregnant consumed 0.4 mg of folic acid daily before and during early pregnancy. This paper reports results from various human and animal studies.

Biology↗
PubMed2000

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

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.

Congenital Abnormalities↗
PubMed1999

Maternal factors associated with severity of birth defects.

OBJECTIVE: Due to inbreeding and nutritional factors, the Bedouin Arabs represent a high risk population for birth defects. The severity of birth defects is probably related to the time and extent of interference with embryogenesis. The present study was aimed at identifying factors associated with severity of birth defects, in pregnancies of Bedouin women examined at a third level ultrasound clinic. METHODS: The study population consisted of 295 Bedouin women who attended an ultrasound clinic at the Soroka Medical Center between 1990 and 1996. The case group included 188 women carrying fetuses with severe birth defects, defined as incompatible with life or which significantly interfere with normal living. For those defects the option of pregnancy termination was discussed. The comparison group consisted of 107 women whose fetuses were diagnosed with mild defects. RESULTS: Women carrying fetuses with severe birth defects had more pregnancies and more deliveries than women carrying fetuses with mild defects (P = 0.005, P = 0.04, respectively). The severity of defects was found to be unrelated to maternal age, consanguinity, residence, birth order, previously uncompleted pregnancies and birth defects in the family. CONCLUSIONS: Higher birth order was associated with severity of birth defects detected at the second trimester.

Arabs↗
PubMed1995

Association study of transforming growth factor alpha (TGF alpha) TaqI polymorphism and oral clefts: indication of gene-environment interaction in a population-based sample of infants with birth defects.

In this study of infants with isolated birth defects, 69 cleft palate only cases, 114 cleft lip with or without cleft palate cases, and 284 controls with noncleft birth defects (all born in Maryland between 1984 and 1992) were examined to test for associations among maternal exposures, genetic markers, and oral clefts. A significantly higher frequency of positive family history of birth defects among both groups of oral cleft cases compared with controls was seen in these data. While there was a modest increase in the less common C2 allele at the TaqI site in the transforming growth factor alpha (TGF alpha) locus among cleft palate only infants compared with the birth defect controls, the association appeared to reflect an underlying interaction between maternal smoking and infant genotype. This apparent gene-environment interaction was also found among those reporting no family history of any birth defect. Infants carrying the rarer C2 allele who were exposed to maternal smoking of 10 or fewer cigarettes per day showed a 6.16-fold increase in risk for cleft palate only (95% confidence interval 1.09-34.7), while similar infants whose mothers smoked more than 10 cigarettes per day showed an 8.69-fold higher risk (95% confidence interval 1.57-47.8). However, the dose-response relation was not significant.

Adult↗
PubMed1998

Does thalidomide cause second generation birth defects?

The proposed association between thalidomide and second generation birth defects is an improbable hypotheses which lacks, so far, any credible scientific foundation. However, the media have chosen to give it extensive coverage. So much so that even the hard-headed scientist may start wondering if there is anything in it. However, there is no reason to suppose that people with birth defects caused by exposure to thalidomide during embryonic life have any greater or lesser chance of producing children with birth defects. This appears to be the case in practice. The question could be reworded to, 'Can thalidomide be responsible for identical, or similar, birth defects in 2 generations of the same family?' For such a phenomenon to be possible, a mechanism must be proposed and there appear to be only 2 possible candidates. The first is that the defects in the parent, originating during embryonic life, have somehow been transmitted to the next generation. The second is that thalidomide is a mutagen as well as a teratogen. The first mechanism can be excluded, since Lamarckism has long since been abandoned by scientists. The hypothesis that thalidomide is a mutagen and might be responsible for birth defects in the children of thalidomide-damaged people is without any scientific foundation. Birth defects appear to be no more common amongst the children of thalidomide-affected parents than in the general population. It is important that thalidomide-affected adults are firmly reassured on this point. Most of them have now completed their own families, but they may still worry about their grandchildren. Therefore, unless and until further supportive evidence is reported by a separate and independent source, the answer to the question, 'Can thalidomide cause second generation defects?' is a very definite 'No.'

Abnormalities, Drug-Induced↗
PubMed2003

Random error and undercounting in birth defects surveillance data: implications for inference.

BACKGROUND: There has been an ongoing debate among birth defects investigators about whether or not to publish estimates of rates of birth defects with confidence intervals to allow for comparisons of rates across regions and time. A major impediment in resolving this debate has been the lack of a framework for quantifying uncertainties in the data that can be applied uniformly to birth defects surveillance programs. This report presents an overview of random error and ascertainment bias in birth defects surveillance data, and of the implications of these errors for estimation and comparisons of birth defects rates. METHODS: We consider when confidence intervals can be used as part of a strategy to make inference on rates, as well as ratios of or differences between two rates. Worth noting is that confidence intervals only address random error in the data. In the presence of undercounting of cases, estimation of rates and confidence intervals requires knowledge or an estimate of the extent of underascertainment. Rate estimates and confidence intervals that ignore such bias can be misleading. However, if it is reasonable to assume that the ascertainment bias is constant over time (or across regions), then it is possible to make valid comparisons of rates over time (or across regions) using ratio or difference estimators, even when lack of knowledge of the extent of undercounting makes estimating the absolute rate and its confidence interval problematic. Finally, sensitivity analyses can use confidence limits to determine the difference in ascertainment bias necessary to explain an apparent difference in rates. CONCLUSION: Because birth defects surveillance systems have evolved in the absence of agreed upon standards to guide the process, it is difficult to determine the extent to which the variability in rates of birth defects across programs or over time is real or due to differences in surveillance methods. Efforts to develop standards for birth defects surveillance may help to minimize the variability in prevalence of birth defects due to differences in case ascertainment methods and allow for evaluations of real temporal and spatial variations in environmental effects. In the meantime, if comparisons of rates need to be made to address public health concerns, it would be prudent to conduct only such comparisons between regions or across time when the degree of case ascertainment can be assumed to be relatively constant across regions and time.

Birth Certificates↗
PubMed2006

[Birth defects occurrence in the Czech Republic in 2003].

OBJECTIVE: An analysis of birth defects occurrence in the Czech Republic in 2003 and a comparison to data from 1996-2002. TYPE OF STUDY: A retrospective analysis of data from a National Register of Congenital Anomalies of the Czech Republic. METHODOLOGY: Data on birth defects in the Czech Republic from the Institute of Health Information and Statistics-National Register of Congenital Anomalies from the 1996-2003 period were used and an analysis of incidences of selected types of birth defects was performed. RESULTS: There were 25,593 children born with a birth defect (14,896 boys and 10,690 girls, in 7 cases the sex was undetermined). A mean incidence of birth defects was 405.2/10,000 live births and remains more or less stable compared to the years 2002 and 2001 (4043/10,000 and 407.9/10,000 live births respectively). CONCLUSIONS: Current data on birth defects in 2003 in the Czech Republic are presented with a comparison to a 8-year period. An analysis of temporal and demographic changes in birth defects incidences is given along with data on prenatal diagnostics and its role in birth defects decrease.

Congenital Abnormalities↗
PubMed1995

Economic costs of birth defects and cerebral palsy--United States, 1992.

Birth defects are the leading cause of infant mortality in the United States and the fifth leading cause of years of potential life lost (1,2). Despite the substantial allocation of medical and nonmedical resources to the care and support of persons with birth defects, the economic costs of such defects have not been estimated accurately. Because estimates of the cost per new case of a birth defect represent the savings from preventing a case, an incidence-based approach enables assessment of the value of prevention strategies. This approach was used to estimate the cost of illness for cerebral palsy and for 17 of the most clinically important structural birth defects in the United States. This report uses data from California (adjusted to provide national estimates) and national data (Table 1) to estimate the costs of these 18 conditions occurring in the United States during 1992.

Cerebral Palsy↗
PubMed2006

National estimates and race/ethnic-specific variation of selected birth defects in the United States, 1999-2001.

BACKGROUND: In the United States, birth defects affect approximately 3% of all births, are a leading cause of infant mortality, and contribute substantially to childhood morbidity. METHODS: Population-based data from the National Birth Defects Prevention Network were combined to estimate the prevalence of 21 selected defects for 1999-2001, stratified by surveillance system type. National prevalence was estimated for each defect by pooling data from 11 states with active case-finding, and adjusting for the racial/ethnic distribution of US live births. We also assessed racial/ethnic variation of the selected birth defects. RESULTS: National birth defect prevalence estimates ranged from 0.82 per 10,000 live births for truncus arteriosus to 13.65 per 10,000 live births for Down syndrome. Compared with infants of non-Hispanic (NH) white mothers, infants of NH black mothers had a significantly higher birth prevalence of tetralogy of Fallot, lower limb reduction defects, and trisomy 18, and a significantly lower birth prevalence of cleft palate, cleft lip with or without cleft palate, esophageal atresia/tracheoesophageal fistula, gastroschisis, and Down syndrome. Infants of Hispanic mothers, compared with infants of NH white mothers, had a significantly higher birth prevalence of anencephalus, spina bifida, encephalocele, gastroschisis, and Down syndrome, and a significantly lower birth prevalence of tetralogy of Fallot, hypoplastic left heart syndrome, cleft palate without cleft lip, and esophageal atresia/tracheoesophageal fistula. CONCLUSIONS: This study can be used to evaluate individual state surveillance data, and to help plan for public health care and educational needs. It also provides valuable data on racial/ethnic patterns of selected major birth defects.

Black or African American↗
PubMed2004

Impact of excluding cases with known chromosomal abnormalities on the prevalence of structural birth defects, Hawaii, 1986-1999.

Chromosomal abnormalities are more common in the presence of structural birth defects. However, much of the literature have only provided chromosomal abnormality rates for one or a few structural birth defects at a time. This study calculated the chromosomal abnormality rates for a number of structural birth defects using data from the Hawaii Birth Defects Program (HBDP) for deliveries during 1986-1999 and evaluated the impact of exclusion of cases with chromosomal abnormalities when calculating birth prevalence. The chromosomal abnormality rates were highest for endocardial cushion defect (40%) and omphalocele (27%), while no chromosomal abnormalities were reported for pyloric stenosis, persistent cloaca, and deficiency of lower limbs. The majority of chromosomal abnormality rates fell within a certain range, with 32 (63%) of the birth defect categories having chromosomal abnormality rates of 5-15%. The chromosomal abnormality rates also tended to be higher for multiple than for isolated cases. For three of the structural birth defects (ventricular septal defect, atrial septal defect, endocardial cushion defect), the birth prevalence of the defect, when cases with a chromosomal abnormality were excluded, was significantly lower than the birth prevalence that included those cases. Chromosomal abnormality rates varied by type of structural birth defect and presence of other major structural birth defects. For at least several structural birth defects, exclusion of cases with chromosomal abnormalities significantly underestimated the birth prevalence. This underestimation may be important, depending on the purpose of the analysis.

Chromosome Aberrations↗
PubMed1994

Parental consanguinity as a cause of increased incidence of birth defects in a study of 131,760 consecutive births.

The risk for birth defects in the offspring of first cousin parents is substantially higher than in the offspring of non-consanguineous parents. As a general decline in the frequency of consanguineous marriages was observed in this century, one wonders whether consanguinity is still a factor in the appearance of birth defects in developed countries. Based on our registry of congenital anomalies, we think that the answer to this question is "yes." In the population studied in Northeastern France, consanguineous matings were known in 1.08% of the cases with congenital anomalies, vs. 0.28% in controls (P < 0.001). The frequency of the malformations recorded paralleled the degree of consanguinity: out of 38 malformed children, 24 were seen in first cousin matings (10.5 times more frequent than in offspring of nonconsanguineous couples), 8 in second cousin marriages, and 6 in more distantly consanguineous matings. Consanguineous mothers were more often pregnant than nonconsanguineous mothers (P < 0.01) and they had more stillbirths than nonconsanguineous mothers. These results must be taken into account when counseling consanguineous couples.

Congenital Abnormalities↗