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Biomedical subjects

Sonja A Rasmussen

Publications and source records attributed to Sonja A Rasmussen.

At least 19 recordsLinked to original sources
PubMed2007

Maternal smoking and environmental tobacco smoke exposure and the risk of orofacial clefts.

BACKGROUND: Smoking during pregnancy has been associated with orofacial clefts in numerous studies. However, most previous studies have not been able to assess the relation between maternal smoking and specific phenotypes (eg, bilateral clefts). METHODS: We examined the association between periconceptional maternal smoking, environmental tobacco smoke (ETS) exposure, and cleft lip with or without cleft palate (CLP) (n = 933) and cleft palate only (CPO) (n = 528) compared with infants with no major birth defects (n = 3390). Infants were born between 1 October 1997 and 31 December 2001, and exposures were ascertained from maternal telephone interviews for the National Birth Defects Prevention Study. We excluded infants who had a first-degree relative with an orofacial cleft. Effect estimates were adjusted for folic acid use, study site, prepregnancy obesity, alcohol use, gravidity, and maternal age, education, and race/ethnicity. RESULTS: Periconceptional smoking was associated with CLP (odds ratio = 1.3; 95% confidence interval = 1.0-1.6), and more strongly associated with bilateral CLP (1.7; 1.2-2.6), with a weaker association observed for CPO. Heavy maternal smoking (25+ cigarettes/day) was associated with CLP (1.8; 1.0-3.2), bilateral CLP (4.2; 1.7-10.3), and CPO with Pierre Robin sequence (2.5; 0.9-7.0). ETS exposure was not associated with CLP or CPO. CONCLUSIONS: This study confirmed the modest association between smoking and orofacial clefts that has been consistently reported, and identified specific phenotypes most strongly affected.

Adolescent↗
PubMed2006

Trends and racial disparities in muscular dystrophy deaths in the United States, 1983-1998: an analysis of multiple cause mortality data.

To identify trends and patterns associated with muscular dystrophy (MD)-associated deaths, we analyzed population-based data from death certificates in the Multiple Cause Mortality Files compiled by the National Center for Health Statistics. From 1983 to 1998, 14,499 deaths in the United States were associated with ICD-9 codes for MD. The mortality rate for MD in the general U.S. population over this time period was 0.365 per 100,000 persons per year. Stratification by age at death revealed a trimodal distribution with peaks at 0, 17, and 62 years. The male-to-female ratio varied with age at death, a pattern consistent with a mixture of autosomal and X-linked MDs with different prognoses. Deaths related to MD appeared to be equally divided between presumed autosomal and X-linked MDs. The mortality rate was higher in Whites than in Blacks, for both autosomal and X-linked MDs. The median age at death was lower in Blacks than Whites for both males and females. Cardiac complications were more commonly noted among MD-associated deaths in Blacks (38.9%) than Whites (28.6%). Respiratory infections were noted in about 20% of MD-associated deaths and were more common in winter than summer months. Potential reasons for the racial differences include differences in prevalence rates, rates of diagnosis, and reporting on death certificates. Additional studies are needed to resolve these issues. Challenges in the interpretation of these data include the lack of ICD-9 codes specific for individual MDs and potential recording biases in underlying cause of death and contributing factors. We also present a method for estimating autosomal and X-linked contributions to the overall mortality rate of a genetically heterogeneous condition such as MD.

Adolescent↗
PubMed2006

Lymphocytic choriomeningitis virus: an emerging obstetric pathogen?

A report in May 2005 from the Centers for Disease Control and Prevention describing a cluster of lymphocytic choriomeningitis virus (LCMV) infections among 4 solid organ recipients has increased awareness of and clinical interest in this pathogen. Human infection with LCMV results from direct or indirect contact with rodents. LCMV has particular relevance to obstetrics, as it is likely an under-recognized abortifacient and fetal teratogen. There have been 54 cases of congenital LCMV reported since 1955, with 34 of the cases diagnosed since 1993. Chorioretinitis and hydrocephalus are the predominant characteristics among children diagnosed with congenital LCMV infection. Obstetricians should educate their pregnant patients about the risks of exposure to laboratory, pet, and wild rodents.

Abortion, Spontaneous↗
PubMed2006

Metabolic disorders detectable by tandem mass spectrometry and unexpected early childhood mortality: a population-based study.

Investigators have reported that certain metabolic disorders (fatty acid oxidation (FAO) disorders and organic acidemias) contribute to unexpected early childhood deaths. We estimated the contribution of these metabolic disorders to a population-based sample of unexpected early childhood deaths. The study population included children less than 3 years of age who died during 1996-2001 and whose deaths were investigated by the Virginia Office of the Chief Medical Examiner (ME). Dried post-mortem blood on filter paper was sent to a reference laboratory for metabolic screening by tandem mass spectrometry. When molecular DNA analysis was available to identify known gene mutations, positive screens were confirmed. If molecular DNA analysis for a suspected disorder was not available, tandem mass spectrometry was performed on newborn blood spots when available. If DNA analysis was not available and newborn blood spots could not be obtained, an independent expert biochemical geneticist confirmed the post-mortem interpretation. We obtained screening results for 793 (88%) of 904 children examined. Eight children had a positive screen for FAO disorders or organic acidemias. One child would not have benefited from identification in the newborn period. However, seven children's outcomes might have been improved had they been identified during the newborn period and effectively treated. Post-mortem metabolic screening may identify a cause of death for about 1% of children who die unexpectedly before 3 years of age, allowing for identification and treatment of affected siblings. Identifying and treating affected children during the newborn period may offer an opportunity to reduce early childhood mortality.

Acyl-CoA Dehydrogenase↗
PubMed2006

Prevalence and predictors of receipt of prenatal information about genetic screening.

OBJECTIVE: To examine the proportion of women who received information on genetic screening among those who had prenatal care and to determine whether the proportion varied by maternal characteristics. METHODS: We used self-reported data from the Pregnancy Risk Assessment Monitoring System (PRAMS), a population-based survey of recent mothers, for birth years 2000-2002. Logistic regression was used to identify independent predictors of receiving information and to calculate adjusted prevalence ratios. RESULTS: Among women who began prenatal care in the first trimester, 86% received information on genetic screening. The strongest predictors of receiving this information were completing the questionnaire in English and having military health insurance. CONCLUSION: Most women receive information on prenatal genetic screening, but insurance status and language preference may impact women's access to this information.

Female↗
PubMed2006

Survival in infants with Down syndrome, Metropolitan Atlanta, 1979-1998.

OBJECTIVE: Factors influencing survival among persons with Down syndrome (DS) are not well understood. We sought to evaluate survival of infants with DS and potential prognostic factors. STUDY DESIGN: Infants with DS who were born alive during 1979 to 1998 were identified using the Metropolitan Atlanta Congenital Defects Program (MACDP), a population-based surveillance system. To document vital status, we used data from hospital records, the National Death Index (NDI), and Georgia vital records. We estimated survival probability using the Kaplan-Meier product limit method and hazard ratios using a Cox proportional hazards model. RESULTS: Survival probability to 1 year was 92.9% (95% CI: 90.9-94.9) and to 10 years was 88.6% (95% CI: 85.0-92.2). Univariate analysis demonstrated that black maternal race, low birth weight, preterm birth, lower paternal education, presence of heart defects, and presence of other major congenital anomalies were important prognostic factors. After multivariate analysis, maternal race, presence of heart defects, low birth weight, and an interaction between maternal race and presence of heart defects were significantly associated with mortality risk. CONCLUSIONS: A racial disparity is apparent in survival for children with Down syndrome. Further study is needed to elucidate possible reasons for the racial disparity.

Black or African American↗
PubMed2006

Maternal nutrient intakes and risk of orofacial clefts.

BACKGROUND: Information about nutritional factors as potential risks of orofacial clefts is limited. METHODS: In this population-based case-control study, we investigated whether periconceptional intakes of supplemental folic acid, dietary folate, and several other nutrients were associated with orofacial clefts. We included data on deliveries from 1997 through 2000 in the National Birth Defects Prevention Study. Orofacial cleft cases were infants or fetuses born with cleft palate (CP) or with cleft lip with or without cleft palate (CLP). Infants without malformations were eligible as controls. Interview participation was 71% among case mothers and 68% among control mothers. Interviews were completed for 704 CLP cases, 404 CP cases, and 2594 controls. RESULTS: The odds ratio (OR) for CLP associated with use of vitamin supplements containing folic acid was 0.88 (95% confidence interval = 0.73-1.07) and for CP was 1.09 (0.84-1.40). Adjusting for maternal race/ethnicity, age, and education produced an OR of 1.01 (0.82-1.24) for CLP and 1.02 (0.77-1.34) for CP. We found some evidence for decreased CLP risks (>or=30% reduction in risk) with increasing intakes of total protein, choline, and methionine. Decreased CP risk was associated with increased intake of cysteine. Intakes of only 2 micronutrients, iron and riboflavin, were found to reduce CLP risk when adjusted for other nutrients. CONCLUSION: Our observations contribute to the limited body of evidence suggesting a woman's periconceptional diet may influence clefting risks in her offspring. Our finding of no reduction in clefting risk with periconceptional use of supplements containing folic acid is inconsistent with many previous observations but not all.

Adult↗
PubMed2006

Birth outcomes following West Nile Virus infection of pregnant women in the United States: 2003-2004.

BACKGROUND: Congenital West Nile virus (WNV) infection was first described in a single case in 2002. The proportion of maternal WNV infections resulting in congenital infection and clinical consequences of such infections are unknown. METHODS: In 2003 and 2004, women in the United States who acquired WNV infection during pregnancy were reported to the Centers for Disease Control and Prevention by state health departments. Data on pregnancy outcomes were collected. One of the maternal WNV infections was identified retrospectively after the infant was born. Maternal sera, placenta, umbilical cord tissue, and cord serum were tested for WNV infection by using serologic assays and reverse-transcription polymerase chain reaction. Infant health was assessed at delivery and through 12 months of age. RESULTS: Seventy-seven women infected with WNV during pregnancy were clinically followed in 16 states. A total of 71 women delivered 72 live infants; 4 women had miscarriages, and 2 had elective abortions. Of the 72 live infants, 67 were born at term, and 4 were preterm; gestational age was unknown for 1. Of 55 live infants from whom cord serum was available, 54 tested negative for anti-WNV IgM. One infant born with umbilical hernia and skin tags had anti-WNV IgM in cord serum but not in peripheral serum at age 1 month. An infant who had no anti-WNV IgM in cord blood, but whose mother had WNV illness 6 days prepartum, developed WNV meningitis at age 10 days. Another infant, whose mother had acute WNV illness at delivery, was born with a rash and coarctation of the aorta and had anti-WNV IgM in serum at 1 month of age; cord serum was not available. A fourth infant, whose mother had onset of WNV illness 3 weeks prepartum that was not diagnosed until after delivery, had WNV encephalitis and underlying lissencephaly detected at age 17 days and subsequently died; cord serum was not available. The following major malformations were noted among live-born infants: aortic coarctation (n = 1); cleft palate (n = 1); Down syndrome (n = 1); lissencephaly (n = 1); microcephaly (n = 2); and polydactyly (n = 1). One infant had glycogen storage disease type 1. Abnormal growth was noted in 8 infants. CONCLUSIONS: Of 72 infants followed to date in 2003 and 2004, almost all seemed normal, and none had conclusive laboratory evidence of congenital WNV infection. Three infants had WNV infection that could have been congenitally acquired. Seven infants had major malformations, but only 3 of these had defects that could have been caused by maternal WNV infection based on the timing of the infections and the sensitive developmental period for the specific malformations, and none had any conclusive evidence of WNV etiology. However, the sensitivity and specificity of IgM testing of cord blood to detect congenital WNV infection are currently unknown, and congenital WNV infection among newborns with IgM-negative serology cannot be ruled out. Prospective studies comparing pregnancy outcomes of WNV-infected and -uninfected women are needed to better define the outcomes of WNV infection during pregnancy.

Adolescent↗
PubMed2006

The contribution of preterm birth to infant mortality rates in the United States.

OBJECTIVE: Although two thirds of infant deaths in the United States occur among infants born preterm (<37 weeks of gestation), only 17% of infant deaths are classified as being attributable to preterm birth with the standard classification of leading causes of death. To address this apparent discrepancy, we sought to estimate more accurately the contribution of preterm birth to infant mortality rates in the United States. METHODS: We identified the top 20 leading causes of infant death in 2002 in the US linked birth/infant death file. The role of preterm birth for each cause was assessed by determining the proportion of infants who were born preterm for each cause of death and by considering the biological connection between preterm birth and the specific cause of death. RESULTS: Of 27970 records in the linked birth/infant death file for 2002, the 20 leading causes accounted for 22273 deaths (80% of all infant deaths). Among infant deaths attributable to the 20 leading causes, we classified 9596 infant deaths (34.3% of all infant deaths) as attributable to preterm birth. Ninety-five percent of those deaths occurred among infants who were born at <32 weeks of gestation and weighed <1500 g, and two thirds of those deaths occurred during the first 24 hours of life. CONCLUSIONS: On the basis of this evaluation, preterm birth is the most frequent cause of infant death in the United States, accounting for at least one third of infant deaths in 2002. The extreme prematurity of most of the infants and their short survival indicate that reducing infant mortality rates requires a comprehensive agenda to identify, to test, and to implement effective strategies for the prevention of preterm birth.

Cause of Death↗
PubMed2005

Public health approach to emerging infections among pregnant women.

As public health professionals respond to emerging infections, particular attention needs to be paid to pregnant women and their offspring. Pregnant women might be more susceptible to, or more severely affected by, emerging infections. The effects of a new maternal infection on the embryo or fetus are difficult to predict. Some medications recommended for prophylaxis or treatment could harm the embryo or fetus. We discuss the challenges of responding to emerging infections among pregnant women, and we propose strategies for overcoming these challenges.

Anti-Infective Agents↗
PubMed2005

Risk of birth defects among children conceived with assisted reproductive technology: providing an epidemiologic context to the data.

Studies of assisted reproductive technology (ART) and birth defects must be scrutinized and appropriately interpreted in the context of their limitations. The recent findings reported by Klemetti et al. are compelling, given the study's many strengths, and add to the accumulating evidence suggestive of an association between ART and birth defects.

Abnormalities, Multiple↗
PubMed2005

Medication use during pregnancy and lactation: an urgent call for public health action.

Questions about medication use during pregnancy and lactation are a concern for women and healthcare providers. Unfortunately, there is little experience with the use of most medications in human pregnancy and lactation at the time they are marketed. Even when information is available, it may not be readily accessible to women and healthcare providers. Nevertheless, medication use by pregnant and breastfeeding women may be beneficial, and even essential, to ensure the health of both mother and child. In addition, almost half of pregnancies in the United States each year are unintended, and medication exposures may occur in the early weeks of gestation before a pregnancy is recognized. For these reasons, it is critical that up-to-date information about the effects of medication use during pregnancy and lactation and the management of maternal conditions be available to women and healthcare providers. A comprehensive, coordinated public health approach that builds on and expands existing activities is needed to generate information about medication use, make that information readily available, and translate it into safe and effective healthcare. Critical components of this system include a central source of up-to-date information, further development and coordination of monitoring and research activities, the availability of counseling services throughout the country, development of standard communication messages, and a panel of experts to provide oversight. This will require collaborative support from government agencies, nonprofit organizations, academic and public health professionals, and healthcare providers to ensure safe and beneficial use of medications during pregnancy and lactation.

Adult↗
PubMed2005

Decline in the prevalence of spina bifida and anencephaly by race/ethnicity: 1995-2002.

OBJECTIVE: In an effort to reduce the occurrence of neural tube defects (NTDs), folic acid fortification of US enriched grain products was authorized by the Food and Drug Administration in March 1996 and required by January 1998. Fortification has been shown to result in an important decline in the prevalence of spina bifida and anencephaly in the general US population; however, fortification's impact on specific racial/ethnic groups has not been well described. We sought to characterize the decline in the prevalence of spina bifida and anencephaly among specific racial/ethnic groups during the transition to mandatory folic acid fortification in the United States. METHODS: Data from 21 population-based birth defects surveillance systems were used to examine trends in prevalence of spina bifida and anencephaly for specific racial/ethnic groups for the years 1995-2002. These years were divided into 3 periods: prefortification, optional fortification, and mandatory fortification. Race/ethnicity was defined as Hispanic, non-Hispanic white, and non-Hispanic black. Prevalence ratios were calculated for each racial/ethnic group by dividing the prevalence from the mandatory fortification period by the prevalence in the prefortification period. RESULTS: The study included data on 4468 cases of spina bifida and 2625 cases of anencephaly. The prevalence of spina bifida and anencephaly was highest among Hispanic births, followed by non-Hispanic white births, with the lowest prevalence among non-Hispanic black births. Significant declines in spina bifida and anencephaly were observed among Hispanic births and non-Hispanic white births. The prevalence ratio for non-Hispanic black births was of borderline significance for spina bifida and was not significant for anencephaly. CONCLUSIONS: The results of this study suggest that folic acid fortification is associated with significant decreases in the prevalence of spina bifida and anencephaly among non-Hispanic white and Hispanic births. The magnitude of the reduction was similar between these 2 groups and was more pronounced for spina bifida than for anencephaly. The decline in the prevalence of spina bifida and anencephaly among non-Hispanic black births did not reach statistical significance. Efforts to increase folic acid consumption for the prevention of NTDs in pregnancies among women of all races/ethnicities should be continued, and studies to identify and elucidate other risk factors for NTDs are warranted.

Anencephaly↗
PubMed2004

Applying public health strategies to primary immunodeficiency diseases: a potential approach to genetic disorders.

Primary immunodeficiency (PI) diseases are a group of primarily single-gene disorders of the immune system. Approximately 100 separate PI diseases have been described, but <20 probably account for >90% of cases. Although diverse, PI diseases share the common feature of susceptibility to infection and result in substantial morbidity and shortened life spans. Most important, prompt diagnosis and treatment can now lead to life-saving treatment and result in marked improvements in the quality and length of life for persons with PI diseases. In November 2001, a workshop was convened by CDC in Atlanta, Georgia, to discuss ways to improve health outcomes among persons with PI disease. A multidisciplinary panel of persons knowledgeable in PI diseases and public health met to identify and discuss public health strategies that can be applied to PI diseases and possibly for other genetic disorders. A systematic assessment based on the established public health framework was applied to the growing group of PI diseases, whose diverse genetic mutations span multiple components of the immune system but all lead to increased incidence and severity of infections. During the meeting, specialists in clinical immunology, public health, genetics, pediatrics, health communication, and ethics from state and federal agencies, academic centers, professional organizations, and advocacy foundations discussed the four components of the public health framework as they relate to PI diseases. These four components include 1) public health assessment (application of traditional public health methods to assess the occurrence and impact of PI diseases on communities); 2) population-based interventions (development, implementation, and evaluation of screening tests administered to newborns and clinical algorithms for early recognition of symptomatic persons to facilitate the earliest possible diagnosis and treatment for PI diseases); 3) evaluation of screening and diagnostic tools (to ensure their quality and appropriateness for identification of patients with PI diseases); and 4) communication (communication with and information dissemination to health-care providers and the public to facilitate prompt and appropriate diagnosis and intervention). The working group's deliberations focused on challenges and opportunities, priority research questions, and recommendations for future action for these four components. These recommendations, developed by workshop participants, will be useful to medical and public health professionals who are evaluating methods to increase recognition of PI diseases and other genetic disorders.

Adolescent↗
PubMed2004

Are children born after assisted reproductive technology at increased risk for adverse health outcomes?

As assisted reproductive technologies (ARTs) are increasingly used to overcome infertility, there is concern about the health of the children conceived. The empirical evidence for associations with outcomes related to child health is variable and should be evaluated with consideration of methodological shortcomings. Currently, there is convincing evidence that ART treatment may increase the risk of a few outcomes. Experimental laboratory studies document that various constituents in culture media affect various embryo characteristics both positively and negatively. Multiple-gestation pregnancy and birth are increased with ART, both because of multiple embryo transfer and embryo splitting. There is evidence of an increase in chromosomal abnormalities among pregnancies conceived using intracytoplasmic sperm injection and low birth weight and preterm delivery among singletons conceived with all types of ART; however, there remains uncertainty about whether these risks stem from the treatment or the parental infertility. For some outcomes, data of an increased risk with ART are suggestive at best largely because of lack of purposeful study of sufficient size and scope. These include specific perinatal morbidities, birth defects, developmental disabilities, and retinoblastoma. The evidence for an association between ART and spontaneous abortion is inconsistent and weak. There is inconclusive evidence that ART may be associated with genetic imprinting disorders. For childhood cancer, chronic conditions, learning and behavioral disorders, and reproductive effects there is insufficient empirical research to date, but given the data for more proximal outcomes, these outcomes merit further study. Future research needs to address the unique methodological challenges underlying study in this area.

Abortion, Spontaneous↗
PubMed2003

Descriptive epidemiology of infantile cataracts in metropolitan Atlanta, GA, 1968-1998.

BACKGROUND: Infantile cataract is an important cause of childhood visual impairment. Surgery before 6 weeks of age is recommended for optimal visual outcome. Description of the epidemiologic characteristics of cataracts is important for an improved understanding of the condition. OBJECTIVES: To identify at-risk populations and facilitate successful treatment of patients with infantile cataracts. METHODS: Infants with cataracts diagnosed in the first year of life were identified using the Metropolitan Atlanta Congenital Defects Program, a birth defects surveillance program with active methods of case ascertainment, for the years 1968-1998. Several factors were analyzed, including year of birth, sex, race, maternal age, plurality (single vs multiple gestation), gestational age, birth weight, laterality, seasonality, and age at diagnosis. RESULTS: A total of 199 infants with cataracts were identified, for a rate of 2.03 per 10 000 births. In 117 infants (59%), cataracts occurred as an isolated defect; in 43 infants (22%), cataracts occurred as part of a syndrome; and in 39 infants (20%), additional, unrelated, major birth defects were also present. Rates were higher for low-birth-weight infants (those weighing <1500 g; risk ratio [RR], 6.01; 95% confidence interval [CI], 3.83-9.43) and preterm infants (RR, 1.70; 95% CI, 1.21-2.40). Of the cases that occurred as an isolated defect, 38% were diagnosed after 6 weeks. CONCLUSIONS: This population-based study provides 31 years of data from a diverse US population and allows identification of risk factors for infantile cataracts. The finding that a number of infants with cataracts continue to have their conditions diagnosed after 6 weeks of age emphasizes the need for direct ophthalmoscopic examination of the red reflex in the newborn period to facilitate early detection and improve outcomes.

Abnormalities, Multiple↗