The introduction of tandem mass spectrometry to newborn screening has substantially expanded our ability to diagnose metabolic diseases in the newborn period. We report the first case of neonatal carnitine palmitoyltransferase deficiency II detected by expanded newborn screening with tandem mass spectrometry. The neonate presented with dysmorphic facial features, structural malformations, renal...

■ Abstract This review is intended to serve as a practical guide for geneticists to current applications of tandem mass spectrometry to newborn screening. By making dried-blood spot analysis more sensitive, specific, reliable, and inclusive, tandem mass spectrometry has improved the newborn detection of inborn errors of metabolism. Its innate ability to detect and quantify multiple analytes fro...

ur lives are often directed by chance occurrences. For Robert Guthrie, a lifelong interest in the cause of mental retardation came from a retarded son and a dedication to preventing mental retardation in phenylketonuria (PKU) came from the diagnosis of PKU in his wife’s mentally retarded niece. From these roots came Guthrie’s introduction f newborn screening for PKU 3 and, subsequently, to the ...

introduction: newborn hearing screening leads to the early detection of hearing impairment. the aim of screening is to decrease or remove the effect of hearing impairment on development of speech and language by timely diagnosis and effective treatment. a number of risk factors lead to delayed start of decreased hearing ability including: 1. congenital infection with cytomegalovirus  (cmv) viru...

The high cost, complexity and reliance on electricity, specialized equipment and supplies associated with conventional diagnostic methods limit the scope and sustainability of newborn screening for sickle cell disease (SCD) in sub-Saharan Africa and other resource-limited areas worldwide. Here we describe the development of a simple, low-cost, rapid, equipment- and electricity-free paper-based ...

Phenylketonuria (PKU) is a treatable and preventable inherited metabolic disease. The overall incidence of PKU in China is 1/11,144. Newborn screening is an effective method of controlling PKU. In1981, the Chinese Government initiated a newborn screening program and the number of newborns screened for PKU in China has risen each year. This review describes the current status of laws and regulat...

Objective: To pilot a newborn screening program for sickle cell disease (SCD) in St. Vincent and the Grenadines using a novel partnership method to determine the feasibility of a universal newborn screening program in this country. Methods: A prospective study of mothers and their newborns was conducted between January 1, 2015, and November 1, 2015, at the country's main hospital. Mothers of in...

Newborn screening fact sheets were last revised in 1996 by the Committee on Genetics of the American Academy of Pediatrics. These fact sheets have been revised again because of advances in the field, including technologic innovations such as tandem mass spectrometry, as well as greater appreciation of ethical issues such as informed consent. The fact sheets provide information to assist pediatr...

These guidelines provide scientific information for policy development by state health departments considering appropriate use of newborn screening specimens after screening tests are finished. Information was collected, debated, and formulated into a policy statement by the Newborn Screening Committee of the Council of Regional Networks for Genetic Services (CORN), a federally funded national ...

There exist congenital diseases that reduce newborns' potential opportunities. This reduction is sometimes alleviated if the congenital disease is early detected thanks to a newborn screening program. We propose an outcome measurement of newborn screening programs based on the opportunity gains they offer after its implementation. We show that, under plausible assumptions, preferences among the...