Decline in Prevalence of Neural Tube Defects in a High-Risk Region of the United States

Re, Stevenson; Wp, Allen; Gs, Pai; Best, Robert G.; Lh, Seaver; Dean, Jane H.; Thompson, Shirley

doi:10.1542/peds.106.4.677

Cited by 180 publications

(124 citation statements)

References 10 publications

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“…37 Prevention programs have been developed to reduce the recurrence of neural tube defects by targeting families with an affected child. 38,39 Collection of family history reports among these families provides an opportunity to target additional relatives who might benefit from directed interventions to reduce the occurrence of these defects. To date, limited published information exists about the utility of such an approach.…”

Section: Effective Interventions For Preventionmentioning

confidence: 99%

Utility of Family History Reports of Major Birth Defects as a Public Health Strategy

Romitti

2007

Pediatrics

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A major birth defect is an abnormality that can affect the structure or function of an organ. In the United States, major birth defects are the leading cause of infant mortality and contribute substantially to childhood disability and morbidity. Globally, these conditions lead to the death of millions of infants and children annually. Patients with 1 or more affected family members may be at increased risk for having a child with a major birth defect; thus, accurate knowledge of these conditions among family members of their patients gives the clinician the ability to provide improved risk assessment and reproductive planning. Such knowledge can also serve as motivation for patients to adhere to healthy behaviors such as folic acid use or smoking cessation. To evaluate the utility of collecting family history reports of major birth defects as a public health strategy, 6 key criteria were examined by reviewing the relevant published literature. Overall, the review showed that major birth defects satisfied several of the criteria. Additional research is needed, however, regarding the awareness of parent reports of the occurrence of these conditions among relatives and how knowledge of birth defect diagnoses and related risk factors are transmitted among relatives. Such research needs to encompass not only immediate family members but also other first-degree and second-degree relatives. In summary, routine collection of family history reports of birth defects in pediatric practice holds promise as a public health strategy to reduce the burden of morbidity, mortality, and disability associated with major birth defects. 2 To date, gene discovery using such information has accounted for a small proportion of the total burden of a particular disease (eg, BRCA1 mutations for breast cancer prevention). 3 Less well understood is the contribution of a positive family history as a predictor of common chronic diseases that encompass both genetic and partial genetic origins (ie, multifactorial conditions). 4 For the pediatric patient, birth defects exemplify such multifactorial conditions. Birth defects can be grouped into 2 broad categories: major and minor defects. A major defect is an abnormality of an organ structure or function that results in physical disability, mental disability, or death, 5 whereas a minor defect does not produce significant health consequences. 6 Both major and minor defects can occur as isolated entities, affecting 1 organ system, or as multiple defects, affecting 1 or several organ systems. Alone, minor defects are not considered to have significant health consequences, although their presentation with 1 or more major defects can provide clues to an underlying genetic or teratogenic etiology. Conservatively, estimates suggest that a causal gene or teratogen accounts for Ͻ30% of defects that occur. For the remainder, the most likely explanation is a confluence of genetic and teratogenic exposures and, to a lesser degree, factors such as intrauterine constraint and amniotic bands that can l...

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Section: Effective Interventions For Preventionmentioning

confidence: 99%

Utility of Family History Reports of Major Birth Defects as a Public Health Strategy

Romitti

2007

Pediatrics

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“…121 Whereas convexity encephaloceles especially in the occipital region predominate in North America, encephaloceles of the anterior cranial fossa most frequently occur in Southeast Asia. These lesions can be classified into sincipital and basal encephaloceles.…”

Section: Encephaloceles Of the Anterior Cranial Fossamentioning

confidence: 99%

Tumors of the skull base in children: review of tumor types and management strategies

Tsai¹,

Santoreneos²,

Rutka³

2002

FOC

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Although many treatment strategies for skull base tumors in adults have been reported, relatively little has been reported regarding such therapies in the pediatric population. Skull base tumors in children present a therapeutic challenge because of their unique pathological composition, the constraints of the maturing skull and brain, and the small size of the patients. In this review, the authors examine the pediatric skull base lesions that occur in the anterior, middle, and posterior cranial base, focusing on unique pediatric tumors such as encepahalocele, fibrous dysplasia, esthesioneuroblastoma, craniopharyngioma, juvenile nasopharyngeal angiofibroma, cholesteatoma, chordoma, chondrosarcoma, and Ewing sarcoma. They review management strategies that include radio- and chemotherapy, as well as surgical approaches with emphasis on the modifications and complications associated with the procedures as they apply in children. Evidence for the advantages and limitations of radiotherapy, chemotherapy, and surgery as it pertains to the pediatric population will be examined. With a working knowledge of skull base anatomy and special considerations of the developing craniofacial skeleton, neurosurgeons can treat skull base lesions in children with acceptable morbidity and mortality rates. Outcomes in this population may be better than those in adults, in part because of the benign histopathology that frequently affects the pediatric skull base, as well as the plasticity of the maturing nervous system.

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“…), total retinol intake (mg day 21 ), folate (DFE day 21 ) and n-3 fatty acids (g day 21 ), but not for folic acid (mg day 21 ), in the diet. The same was seen when adjusted to energy (data not shown).…”

mentioning

confidence: 97%

Validity of protein, retinol, folic acid and n–3 fatty acid intakes estimated from the food-frequency questionnaire used in the Danish National Birth Cohort

Mikkelsen

Osler

Olsen

2006

Public Health Nutr.

111

107

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Objective: To validate intakes of protein, folic acid, retinol and n-3 fatty acids estimated from a food-frequency questionnaire in week 25 of pregnancy . Design: Validation was done against a 7-day weighed food diary (FD) and biomarkers of the nutrients in gestation week 32-38. Subjects and setting: The FFQ-25 to be validated was used in the Danish National Birth Cohort comprising 101 042 pregnant Danish women, of whom 88 participated in the present validation study. Results: Estimated intakes of protein, retinol and folic acid did not differ significantly between the two dietary methods, but intake of n-3 fatty acids was one third larger when estimated from the FFQ-25. The intakes estimated from the two dietary methods were all significantly correlated, ranging from 0.20 for retinol intake to 0.57 for folic acid intake. Sensitivities of being correctly classified into low and high quintiles were between 0.22 and 0.77, and specificities were between 0.62 and 0.89. Urinary protein content did not correlate significantly with protein estimated from the FFQ (r ¼ 0.17, P . 0.05), but did with intake estimated from the FD (r ¼ 0.56, P , 0.0001). Erythrocyte folate correlated significantly with the estimated total intake from the FFQ (r ¼ 0.55, P , 0.0001) and the FD (r ¼ 0.52, P , 0.0001). No correlations with plasma retinol were found. Erythrocyte eicosapentaenoic acid (C20:5n2 3) correlated significantly with n-3 fatty acids intake estimated from both the FFQ-25 (r ¼ 0.37, P , 0.001) and the FD (r ¼ 0.62, P , 0.0001). Conclusion: The FFQ-25 gives reasonable valid estimates of protein, retinol and folic acid intakes, but seems to overestimate intake of n-3 fatty acids. A number of hypotheses on the influence of maternal diet during pregnancy on health have been suggested during the last two decades. In Denmark, data on the dietary intake of pregnant women have been collected on a large scale in the Danish National Birth Cohort (DNBC), which is a prospective pregnancy cohort with national coverage 1 . In gestation week 25, a 360-item food-frequency questionnaire (FFQ-25) was mailed to all cohort members. To enable sensible use of these dietary data for aetiological analyses, however, we need information on the validity of the collected dietary information. The questionnaire is a modified version of the food-frequency questionnaire (FFQ) developed at the Danish Cancer Registry 2 , which was validated in a population of 40-64-year-old men and women 3 and young non-pregnant women 4 . Since diet during pregnancy could be different and since pregnant women might be more aware of their dietary habits, it is important to validate the questionnaire in this particular population and describe the degree of misclassification.Hypotheses initially motivating the set-up of the cohort included those regarding the potential influences of protein 5 -8 , vitamin A 9,10 , folic acid 11,12 and n-3 fatty acids 13,14 consumed in pregnancy on pregnancy outcomes and various measures of offspring health. In the current paper we p...

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Decline in Prevalence of Neural Tube Defects in a High-Risk Region of the United States

Abstract: The prevalence of NTDs in a high-risk region has declined coincident with the increased periconceptional use of folic acid supplements among women of childbearing age.neural tube defects, high-risk region, birth defects, folic acid, spina bifida, anencephaly, encephalocele.

Cited by 180 publications

References 10 publications

Utility of Family History Reports of Major Birth Defects as a Public Health Strategy

Utility of Family History Reports of Major Birth Defects as a Public Health Strategy

Tumors of the skull base in children: review of tumor types and management strategies

Validity of protein, retinol, folic acid and n–3 fatty acid intakes estimated from the food-frequency questionnaire used in the Danish National Birth Cohort

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