Newborn Medical Screening Around the World

Paper Summary:

This paper describes the various tests that are carried out on newborns around the world for early detection of abnormalities, and includes a long list of conditions that can be found. While the author does include evidence of some controversy regarding various screening tests, the overall indication is that such testing can only be beneficial.

From the Paper:

"In the United States, newborns have been routinely screened for abnormalities and conditions affecting the infant's overall health, with routine tests such as biotinidase deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital hypothyroidism, cystic fibrosis, galactosemia, homocystinuria, maple syrup urine disease, MCAD deficiency, PKU, Sickle cell disease, and tyroseinemia. China has taken neonatal screening seriously in recent years, and with assistance from the United States, a "provincial laboratory quality control program has been established and provides oversight for a newborn screening system from blood collection through treatment of patients" (Chen, He, Shen, Wang, Zang, & Zhang 37). Israel has also determined how valuable nationwide neonatal screening is to societal health and in 2006 selected PerkinElmer, Inc., "a global technology leader in Health Sciences and Photonics...to create a comprehensive newborn screening program intended to cover every child born in Israel" (PerkinElmer). This is a definite step in the right direction, as more and more countries follow the lead the United States has had in the realm of neonatal screening."

Sample of Sources Used:

• Cao LP, & Chen XX, & Mao HQ, & Shi YH, & Yang RL, & Zhao ZY, & Zhou XL. "[Screening for Congenital Hypothyroidism in Neonates of Zhejiang Province During 1999-2004]." Zhejiang Da Xue Xue bao Yi Xue Ban 34.4 (2005): 304-307.
• Aguiar, Marcos Jose Burle de, & Carvalho, Maria Raquel Santos, & Fonseca, Cleusa Graca da, & Januario, Jose Nelio, & Magalhaes, Myrian de Castro, & Reis, Adriana de Oliveira, & Santos, Luciana Lara dos, & Starling, Ana Lucia Pimenta. "Frequencies of Phenylalanine Hydroxylase Mutations I65T, R252W, R261Q, R261X, IVS10nt11, V388M, R408W, Y414C, and IVS12nt1 in Minas Gerais, Brazil." Genetics Molecular Research 5.1 (2006): 16-23.
• Chen X, & He Y, & Shen F, & Wang W, & Zang J, & Zhang P. "Development of a Newborn Screening Laboratory Quality Assurance System in Shandong, China." Southeast Asian Journal of Tropical Medical Public Health 34.3 (2003): 36-38.
• Chung HR, & Hong SY, & Lee SY, & Shin CH, & Yang SW. "Factors Distinguishing between Transient and Permanent Hypothyroidism in Patients Diagnosed as Congenital Hypothyroidism by Newborn Screening." Journal of Korean Social Pediatric Endocrinology 10.2 (2005): 154-160."Congenital Hypothyroidism Screening Kicks Off." Iran Daily 2 Oct. 2005.
• Devi AR, & Naushad SM. "Newborn Screening in India." The Indian Journal of Pediatrics 71.2 (2004): 157-160.

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