BACKGROUND Neonatal screening is helpful to prevent serious disability and sufferings caused by congenital or inherited disease. This study was to review the status of neonatal screening for congenital hypothyroidism (CH) and phenylketonuria (PKU) in China. METHODS We analyzed data of neonatal screening for CH and PKU in the past two decades which were obtained from the national network of ne...

background: galactosemia is a congenital metabolic disorder that can damage the health of a newborn. screening is an important step to prevent and treat this condition. due to increasing health care costs and limited financial resources of health systems, the most suitable economic analysis tool should be applied. the aim of this study was to analyze the cost-utility of neonatal screening progr...

The European Union Committee of Experts on Rare Diseases was entrusted with aiding the European Commission in a number of tasks, ranging from the monitoring of initiatives, to recommending improvements and actions to be pursued in the future, in addition to helping strengthen liaison at both European and International levels in the field of rare diseases. The three-year mandate of the EUCERD dr...

Department of Pediatrics, University of Miami Miller School of Medicine, Miami, Florida; and University of Massachusetts Boston, Boston, Massachusetts; Museum of Comparative Zoology, Harvard University, Cambridge, Massachusetts. Address correspondence to Jeffrey P. Brosco, MD, PhD, Department of Pediatrics, University of Miami Miller School of Medicine, PO Box 016820, Miami, FL 33101. E-mail: j...

BACKGROUND Newborn hearing screening has been nationally implemented, but longitudinal cohort follow-up is required to inform Children's Hearing Services of the requirements for postneonatal care pathways. METHODS A 10-year cohort of 35 668 births enrolled into a Universal Neonatal Hearing Screen was followed up until the children had completed the first year of primary school. RESULTS Ther...

During the process of establishing follow-up procedures for our neonatal hearing program, we became interested in the current status of screening programs nationwide. Fifty states and the District of Columbia were surveyed to determine the extent and content of legislatively mandated neonatal hearing screening programs. Fourteen states have legislative mandates for screening and, at this point,...

Colorectal cancer (CRC) is a major health problem in Asia. It has been reported that the Chinese are more susceptible to CRC than many other ethnic groups. Screening for CRC is a cost-effective prevention and control strategy; however, the screening rates among the Chinese are sub-optimal. We conducted a review to identify the factors associated with CRC screening participation among Chinese pe...

Comments on ‘Newborn screening in southeastern Europe’ published in Molecular Genetics and Metabolism, 2014 Sept–Oct;113(1–2):42–45 by U. Groselj, M. ZerjavTansek, A. Smon, N. Angelkova, D. Anton, I. Baric, M. Djordjevic, L. Grimci, M. Ivanova, A. Kadam, V. Mulliqi Kotori, H. Maksic, O. Marginean, O. Margineanu, O. Milijanovic, F. Moldovanu, M. Muresan, S. Murko, M. Nanu, B. Repic Lampert, M. S...

BACKGROUND Economic evaluation of newborn screening poses specific methodological challenges. Amongst others, these challenges refer to the use of quality adjusted life years (QALYs) in newborns, and which costs and outcomes need to be considered in a full evaluation of newborn screening programmes. Because of the increasing scale and scope of such programmes, a better understanding of the meth...

journal of law, medicine & ethics Background Most babies born each year in the U.S. undergo mandatory newborn screening to detect serious medical conditions that can cause devastating effects if treatment is not initiated prior to the onset of symptoms.1 Not all of the blood collected from newborns is used during routine newborn screening, and many states retain the residual dried blood samples...