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Special Issue "Birth Defect Prevention"

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A special issue of International Journal of Environmental Research and Public Health (ISSN 1660-4601).

Deadline for manuscript submissions: closed (30 April 2013)

Special Issue Editor

Guest Editor
Dr. Marcia L. Feldkamp

Division of Medical Genetics, Department of Pediatrics, University of Utah, 2C412 SOM, 50 N. Mario Capecchi Drive, Salt Lake City, UT 84132, USA
Website | E-Mail
Fax: +1 801 883 237 0788
Interests: birth defect; genetic and environmental causes of gastroschisis

Special Issue Information

Dear Colleagues,

Birth defects are: common – 1 in 33 babies are born with a birth defect (or stated another way, every 4.5 minutes a child is born with a birth defect); costly – the estimated hospitalization costs of birth defects in the US is more than $2.6 billion per year; and deadly – in the US, 1 in 5 infant deaths are due to a birth defect.  Recognizing that birth defects contribute to death, chronic illness and disability in many countries the World Health Organization (WHO) adopted a resolution in May 2010 at the 63rd World Health Assembly calling all Member States to promote primary prevention and the health of children with birth defects by developing and strengthening surveillance systems, building capacity, strengthening research and understanding the etiology, diagnosis and prevention and promoting international cooperation. In addition, the National Birth Defects Prevention Network has determined that there is a great need to increase awareness and thus are developing a global birth defects awareness campaign for 2013.

This special issue will focus on birth defect prevention: 1) primary prevention-increasing the chance of having a baby born healthy; and 2) secondary prevention-reducing the associated morbidities and improving the quality of life of children born with birth defects. We are at a critical point to improve our understanding of potentially modifiable risk factors that reduce the prevalence of birth defects that will decline as a result of interventions at the population level. Both empirical and review paper submissions are welcome, on any topic relevant to primary and secondary birth defect prevention.

Dr. Marcia L. Feldkamp
Guest Editor

Submission

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. Papers will be published continuously (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are refereed through a peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Environmental Research and Public Health is an international peer-reviewed Open Access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1600 CHF (Swiss Francs).

Keywords

  • birth defects
  • prevention
  • infant mortality
  • quality of life

Published Papers (5 papers)

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Research

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Open AccessArticle Insights from Parents about Caring for a Child with Birth Defects
Int. J. Environ. Res. Public Health 2013, 10(8), 3465-3482; doi:10.3390/ijerph10083465
Received: 7 June 2013 / Revised: 26 July 2013 / Accepted: 29 July 2013 / Published: 7 August 2013
Cited by 3 | PDF Full-text (286 KB) | HTML Full-text | XML Full-text
Abstract
Birth defects affect 1 in 33 babies. Having a child with a birth defect impacts the whole family. Parents of children who have birth defects face unique challenges and desire to make life better for their kids. They also want to help to
[...] Read more.
Birth defects affect 1 in 33 babies. Having a child with a birth defect impacts the whole family. Parents of children who have birth defects face unique challenges and desire to make life better for their kids. They also want to help to prevent birth defects in the future. Some of the challenges parents face involve communication with healthcare professionals, quality of life issues, creating awareness and advocating for research and funding, finding resources and support, and helping teens transition to appropriate, specialized adult care. This paper addresses these issues and their sub-issues, provides examples, and makes suggestions for improvement and research. Full article
(This article belongs to the Special Issue Birth Defect Prevention)
Open AccessArticle Risk of Spina Bifida and Maternal Cigarette, Alcohol, and Coffee Use during the First Month of Pregnancy
Int. J. Environ. Res. Public Health 2013, 10(8), 3263-3281; doi:10.3390/ijerph10083263
Received: 19 June 2013 / Revised: 23 July 2013 / Accepted: 24 July 2013 / Published: 2 August 2013
Cited by 5 | PDF Full-text (708 KB) | HTML Full-text | XML Full-text
Abstract
This study was conducted to assess the association between the risks of spina bifida (SB) in relation to cigarette, alcohol, and caffeine consumption by women during the first month of pregnancy. Between 1988–2012, this multi-center case-control study interviewed mothers of 776 SB cases
[...] Read more.
This study was conducted to assess the association between the risks of spina bifida (SB) in relation to cigarette, alcohol, and caffeine consumption by women during the first month of pregnancy. Between 1988–2012, this multi-center case-control study interviewed mothers of 776 SB cases and 8,756 controls about pregnancy events and exposures. We evaluated cigarette smoking, frequency of alcohol drinking, and caffeine intake during the first lunar month of pregnancy in relation to SB risk. Logistic regression models were used to calculate adjusted odds ratios and 95% confidence intervals. Levels of cigarette smoking (1–9 and ≥10/day), alcohol intake (average ≥4 drinks/day) and caffeine intake (<1, 1, and ≥2 cups/day) were not likely to be associated with increased risk of SB. Further, results were similar among women who ingested less than the recommended amount of folic acid (400 μg/day). Full article
(This article belongs to the Special Issue Birth Defect Prevention)
Open AccessArticle Food Fortification and Decline in the Prevalence of Neural Tube Defects: Does Public Intervention Reduce the Socioeconomic Gap in Prevalence?
Int. J. Environ. Res. Public Health 2013, 10(4), 1312-1323; doi:10.3390/ijerph10041312
Received: 5 February 2013 / Revised: 18 March 2013 / Accepted: 21 March 2013 / Published: 28 March 2013
Cited by 8 | PDF Full-text (265 KB) | HTML Full-text | XML Full-text
Abstract
Objective: A significant decline in the prevalence of neural tube defects (NTD) through food fortification has been reported. Questions remain, however, about the effectiveness of this intervention in reducing the gap in prevalence across socioeconomic status (SES). Study Design: Using health
[...] Read more.
Objective: A significant decline in the prevalence of neural tube defects (NTD) through food fortification has been reported. Questions remain, however, about the effectiveness of this intervention in reducing the gap in prevalence across socioeconomic status (SES). Study Design: Using health number and through record linkage, children born in Ontario hospitals between 1994 and 2009 were followed for the diagnosis of congenital anomalies. SES quintiles were assigned to each child using census information at the time of birth. Adjusted rates and multivariate models were used to compare trends among children born in different SES groups. Results: Children born in low SES areas had significantly higher rates of NTDs (RR = 1.25, CI: 1.14–1.37). Prevalence of NTDs among children born in low and high SES areas declined since food fortification began in 1999 although has started rising again since 2006. While the crude decline was greater in low SES areas, after adjustment for maternal age, the slope of decline and SES gap in prevalence rates remained unchanged overtime. Conclusions: While food fortification is successful in reducing the prevalence of NTDs, it was not associated with removing the gap between high and low SES groups. Full article
(This article belongs to the Special Issue Birth Defect Prevention)
Open AccessArticle High Dosage Folic Acid Supplementation, Oral Cleft Recurrence and Fetal Growth
Int. J. Environ. Res. Public Health 2013, 10(2), 590-605; doi:10.3390/ijerph10020590
Received: 8 October 2012 / Revised: 25 January 2013 / Accepted: 25 January 2013 / Published: 4 February 2013
Cited by 7 | PDF Full-text (484 KB) | HTML Full-text | XML Full-text
Abstract
Objectives: To evaluate the effects of folic acid supplementation on isolated oral cleft recurrence and fetal growth. Patients and Methods: The study included 2,508 women who were at-risk for oral cleft recurrence and randomized into two folic acid supplementation groups: 0.4
[...] Read more.
Objectives: To evaluate the effects of folic acid supplementation on isolated oral cleft recurrence and fetal growth. Patients and Methods: The study included 2,508 women who were at-risk for oral cleft recurrence and randomized into two folic acid supplementation groups: 0.4 and 4 mg per day before pregnancy and throughout the first trimester. The infant outcome data were based on 234 live births. In addition to oral cleft recurrence, several secondary outcomes were compared between the two folic acid groups. Cleft recurrence rates were also compared to historic recurrence rates. Results: The oral cleft recurrence rates were 2.9% and 2.5% in the 0.4 and 4 mg groups, respectively. The recurrence rates in the two folic acid groups both separately and combined were significantly different from the 6.3% historic recurrence rate post the folic acid fortification program for this population (p = 0.0009 when combining the two folic acid groups). The rate of cleft lip with palate recurrence was 2.9% in the 0.4 mg group and 0.8% in the 4 mg group. There were no elevated fetal growth complications in the 4 mg group compared to the 0.4 mg group. Conclusions: The study is the first double-blinded randomized clinical trial (RCT) to study the effect of high dosage folic acid supplementation on isolated oral cleft recurrence. The recurrence rates were similar between the two folic acid groups. However, the results are suggestive of a decrease in oral cleft recurrence compared to the historic recurrence rate. A RCT is still needed to identify the effect of folic acid on oral cleft recurrence given these suggestive results and the supportive results from previous interventional and observational studies, and the study offers suggestions for such future studies. The results also suggest that high dosage folic acid does not compromise fetal growth. Full article
(This article belongs to the Special Issue Birth Defect Prevention)

Review

Jump to: Research

Open AccessReview Neural Tube Defects, Folic Acid and Methylation
Int. J. Environ. Res. Public Health 2013, 10(9), 4352-4389; doi:10.3390/ijerph10094352
Received: 27 July 2013 / Revised: 30 August 2013 / Accepted: 3 September 2013 / Published: 17 September 2013
Cited by 28 | PDF Full-text (802 KB) | HTML Full-text | XML Full-text
Abstract
Neural tube defects (NTDs) are common complex congenital malformations resulting from failure of the neural tube closure during embryogenesis. It is established that folic acid supplementation decreases the prevalence of NTDs, which has led to national public health policies regarding folic acid. To
[...] Read more.
Neural tube defects (NTDs) are common complex congenital malformations resulting from failure of the neural tube closure during embryogenesis. It is established that folic acid supplementation decreases the prevalence of NTDs, which has led to national public health policies regarding folic acid. To date, animal studies have not provided sufficient information to establish the metabolic and/or genomic mechanism(s) underlying human folic acid responsiveness in NTDs. However, several lines of evidence suggest that not only folates but also choline, B12 and methylation metabolisms are involved in NTDs. Decreased B12 vitamin and increased total choline or homocysteine in maternal blood have been shown to be associated with increased NTDs risk. Several polymorphisms of genes involved in these pathways have also been implicated in risk of development of NTDs. This raises the question whether supplementation with B12 vitamin, betaine or other methylation donors in addition to folic acid periconceptional supplementation will further reduce NTD risk. The objective of this article is to review the role of methylation metabolism in the onset of neural tube defects. Full article
(This article belongs to the Special Issue Birth Defect Prevention)

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