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Advances in newborn screening technology, coupled with recent advances in the diagnosis and treatment of rare but serious congenital conditions that affect newborn infants, provide increased opportunities for positively affecting the lives of children and their families. These advantages also pose new challenges to primary care pediatricians, both educationally and in response to the management of affected infants. Primary care pediatricians require immediate access to clinical and diagnostic information and guidance and have a proactive role to play in supporting the performance of the newborn screening system. Primary care pediatricians must develop office policies and procedures to ensure that newborn screening is conducted and that results are transmitted to them in a timely fashion; they must also develop strategies to use should these systems fail. In addition, collaboration with local, state, and national partners is essential for promoting actions and policies that will optimize the function of the newborn screening systems and ensure that families receive the full benefit of them. INTRODUCTIONIt's another busy day in pediatric practice, even before you receive the telephone call from the state newborn screening program. One of your newborn patients has an out-of-range result* on the screen for a rare but serious congenital condition. "Now what?" you wonder, as you begin to take down the notes. What additional testing is needed? What is the treatment regimen, and when does it begin? What do you tell the parents? And, what do you do about the rest of your schedule?In the past decade, new technologies have led to a rapid expansion in the number of congenital conditions that are targeted in state newborn screening programs. As newborn screening programs expand, the likelihood increases that individual pediatricians will one day receive an out-of-range screening result for an unfamiliar congenital condition for one of their patients.In 2005, the American Academy of Pediatrics (AAP) endorsed a report from the American College of Medical Genetics (ACMG), which recommended that all states screen newborn infants for a core panel of 29 treatable congenital conditions and an additional 25 conditions that may be detected by screening (Appendix 1). 1 The Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children (ACHDGDNC) † also adopted that report. Some states are now screening for more than 50 congenital conditions, many of which are rare and unfamiliar to pediatricians and other *A note about language: although physicians often think of screening results as being "normal/abnormal" or "negative/positive," laboratories use the more specific language of "in range" and "out of range" to report results. We felt that it was appropriate to use and promote this language for the sake of clarity and consistency. For ease of reading, we use "parent" as a generic term to connote the adult who is responsible for a child's health care; we recognize t...

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Review the stated learning objectives of the CME articles and determine if these objectives match your individual learning needs. 2. Read the articles carefully. Do not neglect the tables and other illustrative materials, as they have been selected to enhance your knowledge and understanding. 3. The following quiz questions have been designed to provide a useful link between the CME articles in the issue and your everyday practice. Read each question, choose the correct answer, and record your answer on the CME REGISTRATION FORM at the end of the quiz. Retain a copy of your answers so that they can be compared with the correct answers should you choose to request them. 4. Type your full name and address and your date of birth in the space provided on the CME REGISTRATION FORM. 5. Complete the evaluation portion of the CME REGISTRATION FORM. Forms and quizzes cannot be processed if the evaluation portion is incomplete. The evaluation portion of the CME REGISTRATION FORM will be separated from the quiz upon receipt at PEDIATRIC ANNALS. Your evaluation of this activity will in no way affect the scoring of your quiz. 6. Your answers will be graded, and you will be advised whether you have passed or failed. Unanswered questions will be considered incorrect. A score of at least 80% is required to pass. Your certificate will be mailed to you at the mailing address provided. Upon receiving your grade, you may request quiz answers. Contact our customer service department at (856) 994-9400.

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