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Expanded Newborn Screening: Information and Resources for the Family Physician - ...

Jun 1, 2017 - Each year, 4 to 5 million newborns receive state-mandated screening. Although the Advisory Committee on Heritable Disorders in Newborns and Children has identified 34 core conditions that should be incorporated into screening programs, each state manages, funds, and maintains its own ...

American Family Physician : Article

https://www.aafp.org/afp/2017/0601/p703.html

When to Suspect a Genetic Syndrome - American Family Physician

Nov 1, 2012 - Family physicians should be able to recognize findings on physical examination and history that suggest the presence of a genetic syndrome to aid in the diagnosis and treatment of potentially affected patients, as well as subspecialty referral. General themes that can alert family ...

American Family Physician : Article

https://www.aafp.org/afp/2012/1101/p826.html

Down Syndrome: Prenatal Risk Assessment and Diagnosis - American Family Physician

Aug 15, 2000 - Down syndrome (trisomy 21) is the most commonly recognized genetic cause of mental retardation. The risk of trisomy 21 is directly related to maternal age. All forms of prenatal testing for Down syndrome must be voluntary. A nondirective approach should be used when presenting patients ...

American Family Physician : Article

https://www.aafp.org/afp/2000/0815/p825.html

Inborn Errors of Metabolism in Infancy and Early Childhood: An Update - American Family...

Jun 1, 2006 - Recent innovations in medical technology have changed newborn screening programs in the United States. The widespread use of tandem mass spectrometry is helping to identify more inborn errors of metabolism. Primary care physicians often are the first to be contacted by state and ...

American Family Physician : Article

https://www.aafp.org/afp/2006/0601/p1981.html

Issues in Newborn Screening for Phenylketonuria - American Family Physician

Oct 1, 1999 - The blood sample for phenylketonuria (PKU) screening should be obtained at least 12 hours after the infant's birth. Newborn screening for PKU has largely eliminated mental retardation caused by this disease. If the first phenylalanine test demonstrates positive results, a repeat test ...

American Family Physician : Article

https://www.aafp.org/afp/1999/1001/p1462.html

Screening for Genetic Risk of Breast Cancer - American Family Physician

Jan 1, 1999 - Approximately 10 to 15 percent of all breast cancers are thought to be familial and about one third of these cases are due to an inherited mutation in a BRCA1 or BRCA2 breast cancer-susceptibility gene. The lifetime incidence of breast cancer in mutation carriers is above 50 percent, ...

American Family Physician : Article

https://www.aafp.org/afp/1999/0101/p99.html

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