What's New in Newborn Screening?

Bradford L. Therrell; Colleen Buechner; Michele A. Lloyd-Puryear; Peter C. van Dyck; Marie Y. Mann

Disclosures

Pediatr Health. 2008;2(4):411-429. 

In This Article

Newborn Screening Education

Expanded NBS means diagnosing an expanded panel of conditions (both rare and common), and the complexities of these diagnoses accentuate the need for additional education for most pediatric health professionals. As an educational aid for determining immediate next steps, the ACMG, with HRSA/MCHB funding, has utilized specialists with first-hand knowledge of each of the 29 core conditions to create online action/information (ACT) sheets for healthcare professionals. These ACT sheets provide 'just-in-time' information and associated references so that PCPs can immediately begin the next steps for confirming out-of-range NBS results. Accessible through the ACMG or NNSGRC websites,[108] the ACMG ACT sheets are designed to be used 'as is' or as models for state program educational information. The creation of additional ACT sheets for the secondary targets is currently underway.

Since prenatal education of parents is also recognized as a critical need in the NBS system, HRSA/MCHB funded the development of model prenatal education materials for both parents and health professionals.[80,81] Focus groups of parents and physicians identified their prenatal educational needs to health educational professionals, who developed brief informative materials that address the seven issues that parents most want to know about NBS. Model brochures resulting from this effort and others are available online to provide state programs with example basic knowledge materials at appropriate literacy levels.[109] Some programs have also prepared information for parents in other languages, but their literacy levels have generally not been assessed. The education subcommittee of the ACHDGDNC is currently evaluating the need for materials in different languages and for different cultural groups.

The AAP has also addressed NBS educational issues. Their NBS fact sheets were first published in 1989,[82] and provided basic information about the most popular screening conditions at the time. These fact sheets have been periodically updated as new screening information has accumulated. The most recent version[83] provides updates on biotinidase deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital hypothyroidism, cystic fibrosis, galactosemia, homocystinuria, maple syrup urine disease, medium-chain acyl-CoA dehydrogenase deficiency, PKU, sickle cell disease, other hemoglobinopathies and tryrosinemia. In the companion introduction to the fact sheets,[15] related topics, including NBS as a public health system, informed consent, MS/MS, DNA analysis in NBS, status of NBS in the USA and the effect of sample timing, preterm birth, diet, transfusion and total parenteral nutrition on NBS results are discussed.

The extent to which information about NBS has been emphasized by professional organizations, such as the AAP, emphasizes the extreme importance that this preventive health program now plays in improving the health and wellbeing of all newborns. The necessity for linkages between NBS activities and the medical home further emphasizes the need for good communication between PCPs, families and birthing facilities so as to not waste time in providing for follow-up on out-of-range or unsatisfactory NDBS or NHS results. A new AAP policy statement provides further recommendations for pediatricians and medical homes regarding their growing role and responsibilities in expanded NBS.[40] This statement:

  • Delineates the responsibilities of pediatric health professionals (both primary-care and pediatric medical subspecialists) within the NBS system;

  • Introduces two algorithms that, together, outline a clear and efficient pathway through the process of fulfilling those responsibilities;

  • Outlines resources that will support pediatric health professionals in addressing their responsibilities.

In addition, it addresses steps that individual pediatric health professionals and practices must take in preparing for their system responsibilities. This report further emphasizes the importance for pediatric health professionals to understand NBS, their responsibility within the system, the responsibilities of others and how they can actively participate in the NBS system in order to provide the best care for newborns in their practices.

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