Annotation: This videotape is of a class from a continuing education program entitled Incorporation of Genetics into Clinical Practice: A Course for Nurses and Social Workers. The class features a panel of families affected by a genetic disorder. The teachers hope to increase awareness among nurses and social workers about the difficulties of genetic disorders.

Contact: Georgetown University Center for Child and Human Development, Georgetown University Box 571485, Washington, DC 20057-1485, Telephone: (202)687-5503 Secondary Telephone: (202)687-5000 Fax: (202) 687-8899 E-mail: gucdc@georgetown.edu Web Site: http://gucchd.georgetown.edu Price unknown.

Keywords: Audiovisual materials, Continuing education, Genetic disorders, Nurses, Professional education, Social workers, Videotapes

Annotation: This brochure provides information for parents of children with hearing loss. The brochure discusses genetics and hearing loss; insurance and paying for genetic testing; what parents should do once hearing loss has been diagnosed; why it is important for children with hearing loss to be seen by a geneticist; how to prepare for the genetics appointment; and what happens at the appointment.

Contact: American College of Medical Genetics, 7220 Wisconsin Avenue, N.W., Suite 300, Bethesda, MD 20814, Telephone: (301) 718-9603 Fax: (301) 718-9604 E-mail: acmg@acmg.net Web Site: http://www.acmg.net/

• English
• Spanish

Keywords: Children, Consumer education materials, Genes, Genetic disorders, Genetic screening, Genetic services, Genetics, Hearing disorders, Hearing screening, Hearing tests, Infants

Annotation: This fact sheet provides an overview of Fragile X syndrome (FXS). It describes what Fragile X is; explains what causes it; and discusses the conditions that are common among children with Fragile X. It also lists some of the signs of FXS and explains what parents should do if they think their child has FXS. One side of the fact sheet is in English and the other is in Spanish.

Contact: Centers for Disease Control and Prevention, 1600 Clifton Road, Atlanta, GA 30333, Telephone: (800) 232-4636 Secondary Telephone: (888) 232-6348 E-mail: cdc@cdcinfo.gov Web Site: http://www.cdc.gov Available from the website.

• PDF

Keywords: Consumer education materials, Disabilities, Fragile X syndrome, Genetic disorders, Spanish language materials

Annotation: This website provides information on the genetic disorder Fragile X Syndrome. It explains what causes it and how it is inherited; provides links to data, statistics, and articles; and discusses associated disorders and related concerns. It includes links to an online video illustrating what causes the disorder; an audio podcast about the importance of family history; free consumer education materials that can be downloaded from the website; and links to nonprofit organizations and agencies that focus on Fragile X Syndrome and related topics.

Contact: Centers for Disease Control and Prevention, 1600 Clifton Road, Atlanta, GA 30333, Telephone: (800) 232-4636 Secondary Telephone: (888) 232-6348 E-mail: cdc@cdcinfo.gov Web Site: http://www.cdc.gov Available from the website.

• Link

Keywords: Consumer education materials, Data, Fragile X syndrome, Genetic disorders, Resource materials, Statistics

Annotation: This patient education brochure describes diagnostic tests that can be done to detect birth defects before a baby is born. It discuses different types of common birth defects, including those caused by missing, damaged, or extra chromosomes such Down syndrome and Trisomy 18, and disorders caused by defective genes such as sickle cell disease, cystic fibrosis, and Tay-Sachs. The brochure discusses types of tests, including carrier tests, screening tests, and diagnostic tests, and explains important factors to consider in deciding whether to have them. Diagrams illustrating the differences between amniocentesis and chorionic villus sampling are included, along with a glossary of terminology. The brochure also includes a table listing some of the inherited and chronosomal disorders that can be diagnosed before birth.

Contact: American College of Obstetricians and Gynecologists, 409 12th Street S.W., P.O. Box 96920, Washington, DC 20090-6920, Telephone: (202) 638-5577 Secondary Telephone: (202) 863-2518 E-mail: resources@acog.org Web Site: http://www.acog.org Single photocopies available at no charge; also available from the website.

Keywords: Congenital abnormalities, Genetic disorders, Pregnancy, Testing

Annotation: This video for parents and expectant parents, which is available in English and Spanish, present opinions of experts and parents on the newborn screening process. It depicts how screenings are conducted, what happens afterwards, and how newborn screening results are used. State screening policies are discussed, and parents' concerns about newborn screening are addressed. Resources for more information are provided.

Contact: Save Babies Through Screening Foundation, P.O. Box 42197, Cincinnati, OH 45242, Telephone: (888) 454-3383 E-mail: email@savebabies.org Web Site: http://savebabies.org Available at no charge; also available from the website.

• Link

Keywords: Consumer information materials, DVDs, Genetic disorders, Infant health, Multimedia, Neonatal screening, Prevention, Spanish language materials

Annotation: This web site offers basic information about Rett syndrome, including what the syndrome is, what causes it, what can be done to treat it, and how information about the MECP2 gene affects girls with the syndrome.

Contact: National Institute of Child Health and Human Development Information Resource Center, P.O. Box 3006, Rockville, MD 20847, Telephone: (800) 370-2943 Secondary Telephone: Fax: (301) 984-1473 E-mail: NICHDInformationResourceCenter@mail.nih.gov Web Site: http://www.nichd.nih.gov/ Available at no charge; also available from the website.

• Link

Keywords: Autism, Consumer education materials, Developmental disabilities, Females, Genetic disorders, Research, Rett syndrome

Annotation: This paper examines the logic behind the typical recommendation by medical practitioners that only pregnant women over the age of 35 be tested for Down syndrome and other genetic disorders using amniocentesis or chorionic villus sampling (CVS) since these tests can cause miscarriage. The authors argue that such logic is incomplete, since the cost of such testing rises with age, just as the benefit does: While undergoing an amniocentesis always entails the risk of miscarriage of a healthy fetus, these costs are lower at early ages, because there is a higher probability of being able to replace a miscarried fetus with a healthy birth at a later age. In this paper, the authors present an economic model of amniocentesis choice to explore this tradeoff.

Contact: National Bureau of Economic Research, 1050 Massachusetts Avenue, Cambridge, MA 02138-5398, Telephone: (617) 868-3900 Fax: (617) 868-2742 E-mail: info@nber.org Web Site: http://www.nber.org Available from the website.

• PDF

Keywords: Amniocentesis, Chorionic villi sampling, Cost effectiveness, Economic factors, Genetic disorders, Genetic screening, Guidelines, Maternal age, Prenatal screening

Annotation: This briefing paper outlines issues surrounding the screening of young athletes for their sickle disease carrier status (sickle cell trait), a genetic condition. The report discusses research findings and reports on health outcomes of individuals with sickle sell trait, public health implications of the National Collegiate Athletic Association rule on testing athletes for sickle cell trait, and recommendations. [Funded by the Maternal and Child Health Bureau]

Contact: U.S. Advisory Committee on Heritable Disorders in Newborns and Children, U.S. Maternal and Child Health Bureau, Parklawn Building, 5600 Fishers Lane, Rockville, MD 20857, Telephone: (301) 443-1080 Web Site: http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/ Available from the website.

• PDF

Keywords: Athletes, College students, Genetic disorders, Genetic screening, Public policy, Research, Sickle cell trait, Testing

Annotation: This paper provides information to help families talk to their doctor about medical testing for inherited disorders following a sudden unexplained death. Although the paper points out that sudden unexpected infant death syndrome (SIDS) cannot be predicted or prevented, it describes certain rare, inheritable diseases that can cause sudden death in infants and children. The paper discusses the evaluation of inborn errors of metabolism and cardiac mechanisms, including Long QT Syndrome. Research and commercial testing options for families are are also presented.

Contact: CJ Foundation for SIDS, HUMC: WFAN Pediatric Center, Hackensack University Medical Center, 30 Prospect Avenue, Hackensack, NJ 07601, Telephone: (888) 8CJ-SIDS Secondary Telephone: (551) 996-5111 Fax: (551) 996-5326 E-mail: info@cjsids.org Web Site: http://www.cjsids.org Available from the website.

• PDF

Keywords: Child death, Consumer education materials, Genetic disorders, Infant death, SIDS, Testing