With the implementation of tandem mass spectrometry (MS/MS), neonatal screening for medium-chain acyl-CoA dehydrogenase (MCADD) has been introduced in many screening programs worldwide. Together with phenylketonuria, MCADD is the disorder most frequently diagnosed. Despite undeniable beneficial effects on morbidity and mortality, neonatal screening for MCADD effectively exemplifies the unexpect...

Neonatal screening is an essential preventative public health program, and is the standard practice of care world– wide. India is yet to start any publicly funded program despite this having been established in many countries for over 50 years. The purpose of neonatal screening is to reduce morbidity and mortality in the newborn. Detection must have a clear benefit for the baby and be cost effe...

Auditory deprivation in early life significantly effects speech, language, cognition and learning development. The importance of neonatal hearing screening in order to detect and manage children with hearing impairment during the critical period before three years of age can't be neglected. The neonatal hearing screening program at Veterans General Hospital, Taipei, under a cooperation of audio...

OBJECTIVE To evaluate Michigan newborn screening for congenital hypothyroidism (CH) protocol changes. METHODS This population-based study includes infants born and screened in Michigan (January 1, 1994-June 30, 2010). Screening performance is compared across 4 periods defined by the dried blood spot testing method: (1) thyroxine (T4) with backup thyrotropin, (2) tandem T4 and thyrotropin, (3)...

Neonatal screening in Taiwan started as a pilot program in 1981. The coverage rate increased to 90% in 1990, and is currently more than 99%. Five diseases are covered in the screening program including congenital hypothyroidism, phenylketonuria, homocystinuria, galactosemia, and glucose-6-phosphate dehydrogenase deficiency. A monitoring system was established at the same time to ensure correct ...

UNLABELLED Sickle cell anemia is the best known hereditary blood disorder; there are serious complications associated with the condition. Diagnosis and early intervention reduce morbidity and mortality. These benefits have resulted in the widespread use of newborn screening education programs. In Brazil, the National Neonatal Screening Program established by decree 822/01 included sickle cell d...

OBJECTIVE To assess the cost-effectiveness of neonatal screening on medium chain acyl-CoA dehydrogenase (MCAD) deficiency in a homogeneous population. STUDY DESIGN For the scenario without neonatal screening, medical chart review and interviews were performed with physicians and families of 116 Dutch patients born between 1985 and July 2003 with clinically ascertained MCAD deficiency. For the...

OBJECTIVE The most important cause of infant mortality during the first month of life is related to congenital abnormalities. Nevertheless, timely diagnosis of these diseases can reduce the severity of their effects. The present study aimed to investigate the cost-effectiveness of the neonatal screening program in Fars Province, Iran. METHODS In this study, costs of executing the screening pr...