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Newborn screening fact sheets
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AAP
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Newborn screening for congenital hypothyroidism: recommended guidelines
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AAP
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These guidelines are designed to assist the pediatrician in caring for the child in whom the diagnosis of Down syndrome has been confirmed by karyotype. Although the pediatrician’s initial contact with the child is usually during infancy, occasionally the pregnant woman who has been given the prenatal diagnosis of Down syndrome will be referred for counseling. Therefore, these guidelines offer advice for this situation as well. (From Their Website)
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AAP
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Statement on Nutritional Supplements & Piracetam for Children with Down Syndrome
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ACMG
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The newborn with abnormal genital development presents a difficult diagnostic and treatment challenge for the primary care pediatrician. It is important that a definitive diagnosis be determined as quickly as possible so that an appropriate treatment plan can be established to minimize medical, psychological, and social complications. The purpose of this review is to identify which newborns among those with abnormal genital development need to be screened for intersexuality, to outline the investigations necessary, and to suggest indications for referral to a center with experience in the diagnosis and management of these disorders. An outline is also presented of the embryology of the external genitalia indicating where errors can arise to provide a framework for pediatricians to use when counseling families. Although the focus of this review is on newborns with what has been termed “ambiguous genitalia,” it should be recognized that most genital abnormalities in newborns do not result in an ambiguous appearance. These anomalies include hypospadias, in which the genitalia are clearly malformed, although the sex is unquestionably male. (From Their Website)
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AAP
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Sickle cell disease (SCD) is a group of complex genetic disorders with multisystem manifestations. This statement provides pediatricians in primary care and subspecialty practice with an overview of the genetics, diagnosis, clinical manifestations, and treatment of SCD. Specialized comprehensive medical care decreases morbidity and mortality during childhood. The provision of comprehensive care is a time-intensive endeavor that includes ongoing patient and family education, periodic comprehensive evaluations and other disease-specific health maintenance services, psychosocial care, and genetic counseling. Timely and appropriate treatment of acute illness is critical, because life-threatening complications develop rapidly. It is essential that every child with SCD receive comprehensive care that is coordinated through a medical home with appropriate expertise. (From Their Website)
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AAP
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Position Statement on Carrier Testing for Canavan Disease
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ACMG
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The recommendations detailed here have been incorporated into a joint ACMG/ACOG/NIH Steering Committee document entitled "Preconceptual and Prenatal Carrier Screening for Cystic Fibrosis" which will be widely distributed. This document also will include guidelines for providers, patient education, and informed consent. Patient education materials will include two pamphlets, entitled "Cystic Fibrosis Carrier Testing The Decision is Yours" and "Cystic Fibrosis Testing: What Happens if Both My Partner and I are Carriers?" It is important to note that these guidelines were prepared for population CF carrier screening and that different testing and counseling strategies would be employed for the identification of the mutation(s) in patients diagnosed with CF or in relatives of CF patients. Such diagnostic and prenatal mutation analyses should be referred to a genetics center for appropriate testing and counseling. (From Their Website)
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ACMG
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Maternal serum screening has been modified during the past 25 years and is now widely utilized during the second trimester to identify women at risk for fetal open neural tube defects (ONTDs), anencephaly, and trisomies 21 and 18. This statement replaces the 1994 and 1996 ACMG position statements on serum screening and discusses clinical guidelines for screening that complement the sections of ACMG’s Standards and Guidelines for Clinical Genetics Laboratories entitled “Prenatal Screening for Open Neural Tube Defects” and “Prenatal Screening for Down Syndrome”. (From Their Website)
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Genetics in Medicine
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Statement on folic acid: fortification and supplementation
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ACMG
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