Screening Publications   Health Topics: Screening   ACT Sheets   Training on Screening

Featured Information

Newborn Screening ACT Sheets for Pediatricians
www.acmg.net/resources/policies/ACT/condition-analyte-links.htm 
This website has a table describing the interrelationships between the conditions screened in newborn screening laboratories and the markers (analytes) used for screening. For each marker(s), there is 1) an ACTion (ACT) sheet that describes the short term actions a health professional should follow in communicating with the family and determining the appropriate steps in the follow-up of the infant that has screened positive, and 2) an algorithm that presents an overview of the basic steps involved in determining the final diagnosis in the infant.

Genetics Home Reference
http://ghr.nlm.nih.gov/
Genetics Home Reference includes over 500 topics on genetic conditions and related genes. The site features a richly illustrated tutorial that explains the basics of genetic terms.

The National Birth Defects Prevention Network
http://www.nbdpn.org/current/resources/bdpm2008.html. 
The National Birth Defects Prevention Network's Education and Outreach Committee is pleased to present the 2008 Birth Defects Prevention Month Packet, focusing on "Preventing Infections during Pregnancy.

National Organization for Rare Disorders
http://www.rarediseases.org/
The National Organization for Rare Disorders (NORD) is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, and research.

Biotinidase Deficiency: A Booklet for Families & Professionals
http://www.ccmckids.org/research/biotinidase/index.htm

Health Topics--Cerebal Palsy
http://www.medicalhomeinfo.org/health/cer_palsy.html

Cystic Fibrosis Foundation
http://www.cff.org/
Seeking the means to cure and control cystic fibrosis and to improve the quality of life for those with the disease.

The National Down Syndrome Society
http://www.ndss.org/
The National Down Syndrome Society envisions a world in which all people with Down syndrome have the opportunity to realize their life aspirations. NDSS is committed to being the national leader in enhancing the quality of life, and realizing the potential of all people with Down syndrome

The FOD Communication Network
http://www.fodsupport.org/
The FOD Family Support Group's 'Communication Network' is intended to be used as a resource for families, friends, clinicians, researchers and others who would like to support, educate and provide a forum for the sharing of ideas and concerns for those whose lives have been touched by a Fatty Oxidation Disorder.

Health Topics--Fragile X Syndrome
http://www.medicalhomeinfo.org/health/FragileX.html

Parents of Galactosemic Children, Inc.
http://www.galactosemia.org/
Parents of Galactosemic Children, Inc. (PGC) is a national, non-profit, volunteer organization whose mission is to provide information, support, and networking opportunities to families affected by galactosemia

Maple Syrup Urine Disease Family Support Group http://www.familyvillage.wisc.edu/lib_msud.htm
Opportunity for support and personal contact for those with maple syrup urine disease and their families. Information on MSUD distribution. Strengthens the liaison between families and professionals. Encourages research and newborn screening for MSUD. Newsletter ($10/yr), phone support, conferences, advocacy.

Children's PKU Network
http://www.pkunetwork.org/
Working to maintain an agenda of public awareness, education, and direct assistance to help people with PKU and other metabolic disorders. (Online Only)

Sickle Cell Disease Resource Kit http://www.medicalhomeinfo.org/health/SCDindex.html

This resource kit includes information for physicians and health professionals, resources for state programs, patient/consumer information, and other related resources and links.

*External Resources are not a part of the AAP.ORG Web site. AAP is not responsible for the content of sites that are external to the AAP. Linking to a Web site does not constitute an endorsement by AAP of the sponsors of the site or the information presented on the site.

Last Updated February 5, 2008