Newborn screening

The Clinical and Laboratory Standards Institute (CLSI) has produced a new version of the video Making a Difference Through Newborn Screening: Blood Collection on Filter Paper (NBS01-A6 DVD).

This video is an updated version of the LA04-A5 DVD and is based off of CLSI document Blood Collection on Filter Paper for Newborn Screening Programs; Approved Standard—Sixth Edition (NBS01-A6).

For hundreds of years, newborns who appeared healthy at birth later had severe intellectual or physical disability, or died because their genetic and heritable disorders went undetected and untreated. Thanks to advancing science and technology, newborns can now be screened for an ever increasing number of disorders, all on the same blood spot specimen.

The extensive list of disorders that can now be detected by blood spot newborn screening includes disorders such as phenylketonuria, homocystinuria, MCAD, propionic academia, galactosemia, biotinidase deficiency, congenital hypothyroidism, congenital adrenal hyperplasia, sickle cell anemia, some thalassemias, G6PD deficiency, and cystic fibrosis. 

This new video demonstrates how to prepare for specimen collection; collect blood specimens using the recommended heelstick technique; handle specimens properly; maintain appropriate records; transfer specimens to the screening lab in a timely manner; and prevent testing problems that can delay the newborn’s diagnosis and treatment. 

The video highlights different specimen collection methods and discusses the acceptable techniques for applying blood drops or aliquots to the filter paper segment of the specimen collection device. Following the instructions on proper specimen handling and transport provided in the video helps to ensure quality specimens are consistently obtained for newborn screening analysis.

Newborn screening is key to preventing devastating disorders from destroying young lives. Collecting a few drops of a newborn's blood on filter paper makes a difference in the quality of life for that child and his or her family. Newborn screening makes it possible to detect and treat a variety of debilitating and life-threatening disorders before it is too late.

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