Medical Health Encyclopedia

Newborn Screening Tests

If a disorder is diagnosed on follow-up testing, appropriate treatment can be started right away, before symptoms appear.

Screening tests are used to detect a number of disorders, including:

• Biotinidase deficiency
• Congenital adrenal hyperplasia
• Congenital hypothyroidism
• Cystic Fibrosis
• Galactosemia
• Glucose-6-phosphate dehydrogenase deficiency (G6PD) 
• Hearing problems
• Hemoglobinopathy Disorders and Traits
• Homocystinuria
• Human immunodeficiency disease (HIV)
• Maple syrup urine disease
• Medium-chain acyl-CoA dehydrogenase (MCAD)
• Sickle cell disease
• Toxoplasmosis

Specific Tests:

• Acylcarnitine profile. This test screens for organic acid and fatty acids disorders, including methylmalonic acidemia (MMA).
• Amino acid profile. This test looks for amino acid deficiencies such as maple syrup urine disease  and phenylketonuria .     
• APGAR. The APGAR test is performed one to five minutes after birth. Observers evaluate heart rate, breathing, activity, and skin color to detect which babies may need extra medical attention in the delivery room.

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References:

Graves JC, Miller KE, Sellers AD. Maternal serum triple analyte screening in pregnancy. Am Fam Physician. 2002 Mar 1;65(5):915-20.

Grosse SD, Boyle CA, Cordero JF. Newborn screening for cystic fibrosis: recommendations from the Centers for Disease Control and Prevention. Am Fam Physician. 2005 Apr 15;71(8):1482, 1487.

Bryant KG, Horns KM, Longo N, Schiefelbein J. A primer on newborn screening. Adv Neonatal Care. 2004 Oct;4(5):306-17.

Carreiro-Lewandowski E. Newborn screening: an overview. Clin Lab Sci. 2002 Fall;15(4):229-38.

Centers for Disease Control and Prevention. Newborn Screening for Cystic Fibrosis: Evaluation of Benefits and Risks and Recommendations for State Newborn Screening Programs. J Pediatr. 2005 Sep;147(3 Suppl):S1.

Grosse SD, Boyle CA, Botkin JR, et al. Newborn screening for cystic fibrosis: evaluation of benefits and risks and recommendations for state newborn screening programs. MMWR Recomm Rep. 2004 Oct 15;53(RR-13):1-36.

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