Background: Tandem mass spectrometry (MS/MS) is rapidly being adopted by newborn
screening programs to screen dried blood spots for >20 markers of disease in a single assay. …

Importance Newborn screening for severe combined immunodeficiency (SCID) using assays
to detect T-cell receptor excision circles (TRECs) began in Wisconsin in 2008, and SCID …

Background The optimal duration of zidovudine administration to prevent perinatal transmission
of human immunodeficiency virus type 1 (HIV-1) should be determined to facilitate its …

… exception of Anne Marie Comeau, Ph.D. She wishes to disclose that she is employed by the
University of Massachusetts Medical School, which operates a newborn screening program. …

Objective To derive reliable estimates of the sensitivity of HIV-1 DNA polymerase chain
reaction (PCR) in the neonatal period and to quantify the relative contributions of intra-uterine …

Background Combined immunodeficiencies are marked by inborn errors of T-cell immunity
in which the T cells that are present are quantitatively or functionally deficient. Impaired …

Objectives. Newborn screening for cystic fibrosis (CF) provides a model to investigate the
implications of applying multiple-mutation DNA testing in screening for any disorder in a …

Newborn screening for cystic fibrosis offers the opportunity for early intervention and improved
outcomes. This summary, resulting from a workshop sponsored by the Cystic Fibrosis …

Eleven laboratories evaluated the use of dried blood and plasma spots for quantitation of
human immunodeficiency virus (HIV) RNA by two commercially available RNA assays, the …

Background Combined immunodeficiency with multiple intestinal atresias (CID-MIA) is a rare
hereditary disease characterized by intestinal obstructions and profound immune defects. …