Úvod: laboratornĂ­ novorozeneckĂ˝ screening (LNS) je preventivnĂ­ celopopulačnĂ­ program, kterĂ˝ umoŞňuje včasnou diagnostiku a účinnou léčbu pacientĹŻm s vybranĂ˝mi vrozenĂ˝mi dědičnĂ˝mi nemocemi podstatně zlepĹĄuje kvalitu jejich Ĺživota. Metodika: vyĹĄetřenĂ­ kapilĂĄrnĂ­ krve odebranĂŠ mezi 48. aĹž 72. hodinou Ĺživota ve formě suchĂŠ krevnĂ­ kapky metodami tandemovĂŠ hmotnostnĂ...

OBJECTIVES To review studies on newborn hearing screening in Hong Kong and the current evidence on the cost-effectiveness of universal newborn hearing screening programmes and to determine their value and the best model for such a programme in Hong Kong. DATA SOURCE Medline literature search (1985-2004), local reports and abstracts available to the author. STUDY SELECTION Literature and dat...

OBJECTIVE Traditional population screening focuses on conditions for which early treatment prevents severe morbidity and mortality. The classic example in pediatrics is newborn screening for phenylketonuria, which began in the 1960s. In 1968, Wilson and Jungner delineated 10 criteria that would justify population screening. These criteria have been reaffirmed by many newborn screening task forc...

Newborn screening fact sheets were last revised in 1996 by the American Academy of Pediatrics Committee on Genetics. This revision was prompted by advances in the field since 1996, including technologic innovations, as well as greater appreciation of ethical issues such as those surrounding informed consent. The following disorders are discussed in this revision of the newborn screening fact sh...

Newborn screening has existed for approximately four decades. During that period of time, newborn screening has evolved conceptually from a laboratory test for a single disorder, phenylketonuria (PKU), to a multi-part public health system involving education, screening, diagnostic follow-up, treatment/management, and system evaluation. At a time when newborn screening is recognized as a model f...

Newborn screening is one of the most important public health initiatives to date, focusing on the identification of presymptomatic newborn infants with treatable conditions to reduce morbidity and mortality. The number of screening conditions continues to expand due to advances in screening technologies and the development of novel therapies. Consequently, some of the lysosomal storage disorder...

Galactosemia is an inborn error of galactose metabolism, caused by an abnormality in the conversion of galactose and uridine diphosphoglucose to glucose-1-phosphate and uridine diphosphogalactose through the action of 3 sequential enzymes: galactokinase (GALK), galactose- 1-phosphate uridyltransferase (GALT), and uridine phosphogalactose 4-epimerase (GALE). The advent of newborn screening broug...

CONTEXT Newborn hearing screening programs have been implemented in many countries because it was thought that the earlier permanent childhood hearing impairment is detected, the less developmentally disadvantaged children would become. To date, however, no strong evidence exists for universal introduction of newborn hearing screening. OBJECTIVE To study the effect of newborn hearing screenin...

Critical congenital heart defects (CCHD) occur in approximately two of every 1,000 live births. Newborn screening provides an opportunity for reducing infant morbidity and mortality. In September 2011, the U.S. Department of Health and Human Services (HHS) Secretary endorsed the recommendation that critical congenital heart defects be added to the Recommended Uniform Screening Panel (RUSP) for ...