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Biomedical subjects

J Mulinare

Publications and source records attributed to J Mulinare.

At least 37 records · Page 2Linked to original sources

Prevention of folic acid-preventable spina bifida and anencephaly.

The results of the British Medical Research Council's randomized controlled trial proved that folic acid can prevent spina bifida and anencephaly. The trial provided critical scientific data upon which to base public health policy for preventing folic acid-preventable spina bifida and anencephaly. Within weeks of publication of the results, the Centers for Disease Control and Prevention in the US developed and issued guidelines for women who had had a pregnancy affected by spina bifida or anencephaly. A year later, the US Public Health Service issued the recommendation that all women of child-bearing age who are capable of becoming pregnant should consume 0.4 mg of folic acid per day. The Public Health Service needed a year to make inferential judgements about dose, target groups, safety, timing of ingestion, and existing and proposed vitamin and drug policies and regulations. Current policy discussions concern whether to permit manufacturers of vitamins or food products to claim that folic acid will prevent folic acid-preventable spina bifida and anencephaly and whether to allow a food staple to be fortified with folic acid.

Anencephaly↗

Case-control study of congenital defects and parental employment in health care.

Health care workers may be occupationally exposed to known and suspected teratogens including viruses, anesthetic gases, sterilants, mercury, and x-radiation. To assess the risk of congenital defects among offspring of health care workers, we analyzed parental occupational histories for 4,915 case babies with congenital defects, registered during the years 1968-1980 by the Metropolitan Atlanta Congenital Defects Program (MACDP) registry, and for 3,027 control babies born without defects during the same period. Offspring of mothers employed in a nursing occupation during the periconceptional period had a modest excess risk of having at least one congenital defect (relative risk [RR] = 1.42; 95% confidence interval [CI] 1.06-1.88); the offspring were at statistically significant increased risk of having anencephaly or spina bifida (RR = 2.00; 95% CI 1.01-4.30), coarctation of the aorta (RR = 2.06; 95% CI 1.10-3.82), genital system defects (RR = 1.61; 95% CI 1.03-2.53), and urinary system defects (RR = 3.43; 95% CI 1.41-8.34). These associations were not confounded by maternal age, education, or alcohol consumption. Offspring of mothers employed in administrative or clerical jobs in the health care industry also had a modest excess risk of defects (RR = 1.35; 95% CI 0.96-1.90), including a statistically significant excess risk of limb defects. We also found associations between neural tube defects and potential exposure to anesthetic gases and to x-radiation, but each association was based on only three case babies of potentially exposed parents. We found no associations between defects and paternal health care employment, except for a few individual defects, and these were based on small numbers of exposed subjects. Only one of five previous studies reviewed found an increased risk of congenital defects among offspring of nurses, but three of the four negative studies had substantially smaller sample sizes than the present study. Detection bias may be a possible explanation for the apparent excess risk of certain defects among offspring of nurses.

Abnormalities, Drug-Induced↗

Is there etiologic heterogeneity between upper and lower neural tube defects?

Neural tube defects are thought to arise from two different embryologic mechanisms depending on the level of the defect: neurulation defects associated with anencephaly and upper spina bifida and canalization defects associated with lower spina bifida. To investigate whether the risk profiles of neural tube defect cases differ according to the level of the defect, the authors examined data from the Atlanta Birth Defects Case-Control Study. Cases were infants live- or stillborn from 1968 to 1980 with these defects, and controls were infants without defects randomly selected and frequency matched to cases by race, birth year, and hospital of birth. By multivariate polychotomous logistic regression, 1,186 controls were compared with cases: 145 with anencephaly, 59 with upper spina bifida (cervical/thoracic lesions), and 100 with lower spina bifida (lumbar/sacral lesions). Infant's sex and sibling recurrence of neural tube defects were the only factors for which the case subgroups significantly differed in risk. The risks associated with selected maternal exposures during the first trimester of pregnancy did not differ among the case subgroups. Although these results do not support the concept that upper and lower neural tube defects differ in risks from exogenous factors, differences in sibling recurrence and in risks by sex between the two groups suggest an underlying heterogeneity in genetic susceptibility factors.

Anencephaly↗

Inconsistencies in coding of race and ethnicity between birth and death in US infants. A new look at infant mortality, 1983 through 1985.

OBJECTIVE: To ascertain the consistency of the racial and ethnic classification of US infants between birth and death and its impact on infant mortality rates. SUBJECTS: All US infants born from 1983 through 1985 who died within a year. DESIGN: We used the national linked birth/infant-death computer tape, augmented with information on infants' race and ethnicity at death, to compare the coding of race and Hispanic ethnicity at birth and at death. We also assessed infant mortality rates by race and ethnicity as defined (1) by the standard algorithm and (2) by the rule that, beginning in published tabulations for 1989, assigns newborns the race of their mothers. Finally, we estimated infant mortality rates based on consistent coding of race and ethnicity at birth and death. RESULTS: Inconsistency in the coding of race is low for whites (1.2%), greater for blacks (4.3%), and greatest for races other than white or black (43.2%). Most infants reclassified at death (87.3%) are classified as white at death. Inconsistency in coding is lower for non-Hispanic whites (3.5%) and non-Hispanic blacks (3.3%) than for Hispanic populations (30.3%). Compared with the standard algorithm for calculation of infant mortality, consistent definition at birth and death produces rates 2.1% lower for whites, and higher for all other groups--3.2% for blacks, 46.9% for American Indians, 33.3% for Chinese, 48.8% for Japanese, 78.7% for Filipinos, and 8.9% for Hispanics. CONCLUSIONS: The coding of race and ethnicity of infants at birth and death is remarkably inconsistent, with substantial impact on the estimation of infant mortality rates. A need exists to reconsider the nature and definition of race and ethnicity in public health.

Ethnicity↗

Epidemiology of Rh hemolytic disease of the newborn in the United States.

Nationwide surveillance of Rh hemolytic disease of the newborn (RhHDN) indicates that, after a substantial decline in incidence, reported rates reached a plateau in the late 1970s. We conducted a study designed to validate RhHDN surveillance data, to obtain corrected incidence estimates, and to identify potential reasons for the reported plateau. We obtained data from the Birth Defects Monitoring Program, a national surveillance system that collects data from public and private hospitals participating voluntarily. We asked hospitals for copies of the medical records for all infants discharged with a code for RhHDN and for a sample of the medical records of infants discharged with a code for other and unspecified hemolytic disease during 1986. The estimated incidence rate of RhHDN was 10.6 per 10,000 total births, with some regional variations. Our findings indicate that, despite the availability of an effective preventive measure, RhHDN continues to contribute significantly to infant morbidity and mortality in the United States.

Adult↗

Evaluation of birth defect histories obtained through maternal interviews.

Etiologic studies of birth defects often use family history information provided by parents of patients. The validity of this information has not been adequately assessed. Using data from the Atlanta Birth Defects Case-Control study, we evaluated sensitivity, specificity, and positive predictive value of mothers' responses regarding the presence of birth defects in their offspring. A total of 4929 mothers of infants with major structural defects ascertained by the Metropolitan Atlanta Congenital Defects Program and a total of 3,029 mothers of normal infants were asked whether their babies had had a birth defect or a health problem diagnosed during the first year of life. Interviewers and coders of maternal responses were blinded to the case-control status of infants. Sensitivity (the proportion of case mothers who gave responses that could be coded as denoting a major birth defect) was 61%. Specificity (the proportion of control mothers who gave responses that could not be coded as denoting a major birth defect) was 98%. The positive predictive value (the proportion of mothers who gave a major-birth-defect response who in fact had babies with major birth defects) was estimated as 47%. Sensitivity, specificity, and positive predictive value varied by maternal sociodemographic factors such as race and education, as well as by type of defect. These results suggest that family history data obtained through maternal interviews should be cautiously interpreted and, if not properly validated, may alter estimates of recurrence risks.

Case-Control Studies↗

Maternal cocaine use during early pregnancy as a risk factor for congenital urogenital anomalies.

To study the association of maternal cocaine use during early pregnancy with the occurrence of congenital urogenital anomalies, we analyzed data from the population-based Atlanta Birth Defects Case-Control Study. We identified 276 and 791 case-babies with urinary and genital anomalies, respectively, who were live born and stillborn to residents of metropolitan Atlanta from 1968 through 1980. There were 2835 and 2973 respective control-babies born without birth defects randomly selected through birth certificates. Maternal cocaine use during early pregnancy was defined as reported use at any time from 1 month before the pregnancy began through the first 3 months of pregnancy. We found a statistically significant association of reported cocaine use with an increased risk for urinary tract defects (crude odds ratio, 4.39; 95% confidence interval, 1.12 to 17.24) and no statistically significant association with genital organ defects (odds ratio, 2.26; confidence interval, 0.67 to 7.62). The findings from this study were consistent with a previously reported association of maternal cocaine use and urinary tract anomalies in animal and clinical studies.

Abnormalities, Drug-Induced↗

Does maternal cigarette smoking during pregnancy cause cleft lip and palate in offspring?

To investigate the relationship between maternal cigarette smoking and the risk of oral clefts in offspring, we examined data from the Atlanta Birth Defects Case-Control Study, which included 238 cases of cleft lip with or without cleft palate and 107 cases of cleft palate ascertained by the Metropolitan Atlanta Congenital Defects Program from 1968 through 1980. In all, 2809 infants who served as controls were frequency matched to cases by race, period of birth, and hospital of birth. Maternal periconceptional exposures to smoking were investigated through use of a structured questionnaire. Smoking exposure was defined as reported maternal smoking during the periconceptional period (from 3 months before conception to 3 months after pregnancy began). Offspring of smoking mothers were 1.6 and 2.0 times more likely than offspring of nonsmoking mothers to have isolated cleft lip with or without cleft palate and cleft palate, respectively. On the other hand, offspring of smoking mothers were not at increased risk of having cleft palate or cleft lip with or without cleft palate that are associated with other defects. Adjustment for potential confounding variables did not alter these results. A relatively modest effect of smoking may be explained by the presence of underlying etiologic heterogeneity in oral clefts and differential susceptibility to smoking. Because of the inconsistencies in the literature on the relationship between smoking and oral clefts, these results suggest the need to refine oral clefts into more homogeneous subgroups in epidemiologic studies of these defects.

Adult↗

Risk factors for conotruncal cardiac defects in Atlanta.

Because the causes of conotruncal cardiac defects are poorly understood, a case-control study was conducted to investigate maternal risk factors for conotruncal cardiac defects. Eligible cases included all infants who were born from 1976 through 1980 to residents of the five county metropolitan Atlanta area and diagnosed with truncus arteriosus, transposition of the great arteries or tetralogy of Fallot. Eligible control infants were a sample of comparable infants without birth defects. Maternal interviews were conducted for 73% (83 of 114) of eligible cases and 72% (1,303 of 1,804) of eligible control infants. The results showed increased risks associated with maternal diabetes (odds ratio 5.6; 90% confidence interval 2.5 to 15.6), maternal stress related to job loss, divorce, separation or death of a close friend or relative (odds ratio 2.4; 90% confidence interval 1.4 to 4.2) and a history of a sibling with a cardiac defect (odds ratio 4.8; 90% confidence interval 2.2 to 10.5). The statistical power of the data was adequate to rule out threefold or greater increases in risk for a wide variety of other exposures, including maternal illnesses other than diabetes, contraceptive use, nonmedicinal drugs (for example, coffee, tea, alcohol, cigarettes, street drugs), employment and education. This population-based study offers no clues that could explain either the high rate of transposition of the great arteries or the temporal trend of an increasing rate of tetralogy of Fallot in Atlanta.

Cross-Sectional Studies↗

Selected midline defect associations: a population study.

Using data from the population-based Metropolitan Atlanta Congenital Defects Program, the association of seven relatively common and easily ascertainable groups of midline defects was studied. These defects were neural tube defects (575 patients), oral clefts (633 patients), omphalocele (141 patients), esophageal atresia/tracheoesophageal fistula (88 patients), imperforate anus (151 patients), conotruncal heart defects (289 patients), and diaphragmatic hernia (75 patients). Known syndromes were excluded from the analysis. Of 1743 infants with at least one midline defect, 86 (4.9%) had at least a second midline defect, and 9 (0.5%) had two additional midline defects. Pairwise analysis of the seven defects shows that, although most midline defects tend to be statistically associated with other midline defects, specific combinations of midline defects are seen. For example, neural tube defects are more strongly associated with cleft lip with or without cleft palate than with cleft palate alone; imperforate anus is more strongly associated with spina bifida than with anencephaly or encephalocele. Moreover, some combinations of defects are not observed (eg, neural tube defect and conotruncal heart defect, clefts and diaphragmatic hernia, omphalocele and esophageal atresia/tracheoesophageal fistula). These data point to the need for further refinement in the study of the association of midline defects in terms of embryologic and pathogenetic mechanisms because most midline defects tend to occur as an isolated defect, some midline defects occur with nonmidline defects (such as limb defects), and specific associations among midline defects are observed.

Abnormalities, Multiple↗

Periconceptional use of multivitamins and the occurrence of neural tube defects.

We studied the association between multivitamin use during the periconceptional period and the occurrence of neural tube defects using data from the Atlanta Birth Defects Case-Control Study. There were 347 babies with neural tube defects who were live born or stillborn to residents of metropolitan Atlanta from 1968 through 1980. The 2829 control-babies born without birth defects were randomly selected through birth certificates. Periconceptional multivitamin use was defined as reported use for each of the three months before conception through the first three months of pregnancy. Mothers who reported not using multivitamins any time during the six-month period were defined as nonusers. Fourteen percent of mothers reported periconceptional multivitamin use and 40% reported nonuse. Multivitamin users were different from nonusers in a number of demographic, health-related, and life-style characteristics. We found an overall apparent protective effect of periconceptional multivitamin use on the occurrence of neural tube defects, with a crude estimated relative risk of 0.40 (95% confidence interval, 0.25 to 0.63). At this time, it is not possible to determine whether this apparently lower risk is the direct result of multivitamin use or the result of other characteristics of women who use multivitamins.

Adult↗

Epidemiology of the early amnion rupture spectrum of defects.

We used data from the population-based Metropolitan Atlanta Congenital Defects Program to study the epidemiology of the early amnion rupture spectrum of defects. For the period 1968 through 1982, we identified 45 patients among 388,325 live births, for a birth prevalence rate of 1.16 per 10,000. The prevalence for male infants was 0.91 and for female infants, 1.44. The defects occurred 1.76 times more often in blacks than in whites (95% confidence interval 0.98, 3.13). Infants of young, black multigravidas (less than 20 years, more than one pregnancy) showed the highest rate (6.2), and infants of older, black multigravidas showed the lowest rate (0.5) (rate ratio = 12.4, 95% confidence interval 4.2, 36.4). These findings suggest that young, black multigravidas are at much higher risk than are older, black multigravidas of having infants with this spectrum of defects. Ascertainment (diagnostic) differences between hospitals probably account for some of the racial discrepancy in birth prevalence, but they do not explain the maternal age effects in black multigravidas. Because the higher rates for blacks probably reflect more accurate diagnoses, the findings also suggest that a closer estimate of the true birth prevalence may be about 3 per 10,000 live births.

Amniotic Band Syndrome↗

Vietnam veterans' risks for fathering babies with birth defects.

Vietnam veterans' risks for fathering babies with major structural birth defects were assessed using a case-control study. Information regarding military service in Vietnam was obtained from interviews with mothers and fathers of babies in case and control groups and from review of military records. Vietnam veterans, in general, did not have an increased risk of fathering babies with defects (all types combined; relative risk estimate, 0.97). Vietnam veterans who had greater estimated opportunities for Agent Orange exposure did not seem to be at greater risk for fathering babies with all types of defects combined. However, for a few specific types of defects the estimated risks were higher for subgroups of Vietnam veterans that may have had a greater likelihood of exposure to Agent Orange. These seemingly higher risks could be chance events, the result of some experience in the Vietnam service of the father, or the result of some other unidentified risk factor.

2,4,5-Trichlorophenoxyacetic Acid↗