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The American Academy of Pediatrics endorses the US Public Health Service (USPHS) recommendation that all women capable of becoming pregnant consume 400 mg of folic acid daily to prevent neural tube defects (NTDs). Studies have demonstrated that periconceptional folic acid supplementation can prevent 50% or more of NTDs such as spina bifida and anencephaly. For women who have previously had an NTD-affected pregnancy, the Centers for Disease Control and Prevention (CDC) recommends increasing the intake of folic acid to 4000 mg per day beginning at least 1 month before conception and continuing through the first trimester. Implementation of these recommendations is essential for the primary prevention of these serious and disabling birth defects. Because fewer than 1 in 3 women consume the amount of folic acid recommended by the USPHS, the Academy notes that the prevention of NTDs depends on an urgent and effective campaign to close this prevention gap. (From Their Website)
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AAP
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Elevated maternal phenylalanine levels during pregnancy are teratogenic and may result in growth retardation, significant psychomotor handicaps, and birth defects in the offspring of unmonitored and untreated pregnancies. Women of childbearing age with all forms of phenylketonuria, including mild variants such as hyperphenylalaninemia, should receive counseling concerning their risks for adverse fetal effects optimally before conceiving. The best outcomes occur when strict control of maternal phenylalanine levels is achieved before conception and continued throughout the pregnancy. (From Their Website)
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AAP
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The GeneTests Web site is a publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers, available at no cost to all interested persons. (From Their Website)
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University of Washington
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National Cancer Institute provides various information. For the general public, patients, and health professionals, they offer consumer-oriented information on a wide range of topics as well as comprehensive descriptions of their research programs and clinical trials. Scientists will find detailed information on specific areas of research interest and funding opportunities. (From Their Website)
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National Cancer Institute
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The mission of the National Institute of General Medical Sciences (NIGMS) is to support research that increases understanding of life processes and lays the foundation for advances in disease diagnosis, treatment, and prevention. NIGMS-funded researchers seek to answer important scientific questions in fields such as cell biology, biophysics, genetics, developmental biology, pharmacology, physiology, biological chemistry, bioinformatics, computational biology, selected aspects of the behavioral sciences, and specific cross-cutting clinical areas that affect multiple organ systems. NIGMS also provides leadership in training the next generation of scientists to assure the vitality and continued productivity of the research enterprise. (From Their Website)
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National Institute of General Medical Sciences
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Information Resource for Genetic Testing for BRCA1 and BRCA2
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NCI
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Points to Consider in Preventing Unfair Discrimination Based on Genetic Disease Risk: A Position Statement of the American College of Medical Genetics
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ACMG
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ACMG Policy Statement on Direct-to-Consumer Genetic Testing
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ACMG
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Policy statement on the duty to re-contact
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ACMG
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Recommendations for Standards for Interpretation of Sequence Variations
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ACMG
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