Since newborn screening (NBS) began in the 1960s, technological advances have enabled its expansion to include an increasing number of disorders. Recent developments now make it possible to sequence an infant's genome relatively quickly and economically. Clinical application of whole-exome and whole-genome sequencing is expanding at a rapid pace but presents many challenges. Its utility in NBS ...

The Maternal and Child Health Bureau commissioned the American College of Medical Genetics to outline a process of standardization of outcomes and guidelines for state newborn screening programs and to define responsibilities for collecting and evaluating outcome data, including a recommended uniform panel of conditions to include in state newborn screening programs. The expert panel identified...

There are 14 modules, in multimedia format and in English and French languages, addressing major issues in sickle cell disease, interspersed with multiple choice questions which allow self assessment of the individual’s knowledge and proficiency. These modules have been prepared and recorded by 11 different experts from Belgium, the Democratic Republic of Congo, France, India, Jamaica and Monac...

OBJECTIVES Retaining residual newborn screening (NBS) bloodspots for medical research remains contentious. To inform this debate, we sought to understand public preferences for, and reasons for preferring, alternative policy options. METHODS We assessed preferences among 4 policy options for research use of residual bloodspots through a bilingual national Internet survey of a representative s...

 Background: Recto-vaginal colonization of Group B streptococcus (GBS) has been known as an important issue in mother and newborn’s health, which is getting frequent in developing countries. Screening test have been introduced and utilized in many countries and is recommended by many researchers. However, due to lack of information in prevalence of GBS, especially in Iran, there are doubts and ...

3-methylcrotonyl-coenzyme A carboxylase (3MCC) deficiency is an autosomal recessive disorder in which leucine catabolism is hampered, leading to increased urinary excretion of 3-methylcrotonylglycine. In addition, 3-hydroxyisovalerylcarnitine levels increase in the blood, and the elevated levels form the basis of neonatal screening. 3MCC deficiency symptoms are variable, ranging from neonatal o...