scope:

This standard describes the collection of blood specimens for newborn screening (NBS) programs, including equipment, sources of blood, collection sites, and techniques for blood spot specimen collection.³ This standard is intended to improve and ensure the quality of dried blood spot (DBS) specimens collected from newborns to rapidly identify newborns at risk for some congenital disorders (eg, inborn errors of metabolism, endocrinopathies, immunodeficiency disorders).^3,4

NBS01 includes detailed instructions for the preferred method of blood collection (heelstick with direct application) and also provides easy-to-follow illustrated instructions (see Appendix A) for the steps to be taken by personnel who work at facilities other than the NBS laboratory to ensure acceptable-quality blood spot specimens are collected and to prevent the need for specimen re-collection. Poor-quality specimens (shown in Appendix B) may result in false-positive or false-negative NBS test results and/or the inability to screen the baby. The need for re-collection results in additional follow-up, which if not completed in a timely manner, could result in a missed or delayed diagnosis, unnecessary trauma to the newborn, and anxiety to the parents or guardians.

In all NBS programs, results turnaround time is critical if treatments to alter the adverse consequences of a screened disease (eg, irreversible brain damage or death) are to commence in a timely manner. The specimen criteria and handling procedures describe common variances among different sources of NBS specimens that might be tested and the influence of specimen quality on NBS test results and their interpretation.⁵

In addition, this standard specifies:

• Minimum necessary information to provide on or with the specimen collection device

• Requirements for the two collection device components:

- A section for recording demographic and other requested information

- A blood collection (specified filter paper) section for applying and drying the blood drops

• Minimum requirements for the filter paper matrix, including the protocol for testing the absorption characteristics of filter paper (see Appendix C) on which the blood spots are collected

• Acceptable alternative methods and instructions for collecting blood specimens for NBS testing from the following sources:

- Venous blood

- Umbilical catheter blood

- Femoral catheter blood

• Requirements for handling, shipping, retention, and storage conditions for DBS specimens Intended users of this standard include:

• Hospital personnel, midwives, or other health care workers who collect DBS specimens during the first few days of a newborn's life

• NBS laboratory personnel who perform testing

• NBS follow-up personnel

• Manufacturers who develop testing methodologies and specimen collection devices

• NBS program advisory committee members

This standard identifies steps in NBS program processes for which it is appropriate to develop written documentation, specifically when it benefits the NBS program and the families (eg, obtaining consent for NBS and DBS specimen retention, DBS specimen transport) while recognizing that local rules and regulations must be observed. Additionally, information on long-term storage and retention of residual specimens is included. In addition to specimen quality issues, this standard lists several patient conditions and treatments known to interfere with the reliability of NBS results (see Appendix D). For more specific information about these conditions and treatments for preterm, low birth weight (LBW), or sick newborns, refer to CLSI document NBS03.⁶ Many aspects of this standard are also appropriate and useful for the collection of DBS specimens used for other reasons, eg, DNA or RNA molecular methods, at-home specimen collection, and a variety of other tests using a similar filter paper matrix. In addition, most elements of this standard are applicable to blood collection on filter paper from fingerstick punctures of infants, children, adolescents, and adults (see CLSI document GP42¹).^7-10 This standard does not discuss:

• Local NBS program requirements (check local regulations and institutional policies)

• Patient registration or examination (test) request and ordering guidance (refer to CLSI documents GP33¹¹ and GP42¹)

• Local policies on unacceptable specimens