Newborn Screening Fact Sheets

PEDIATRICS ◽  
1996 ◽  
Vol 98 (3) ◽  
pp. 473-501 ◽  

These newborn screening fact sheets were developed by the Committee on Genetics of the American Academy of Pediatrics (AAP) with considerable assistance and consultation from many individuals. It is hoped that the information contained in these fact sheets will assist the pediatrician in understanding the individual tests, their characteristics, and their strengths and weaknesses. Newborn screening is an individual function of each state; therefore, screening programs are not uniform throughout the United States (Table). Because the test results can affect children and parents in a variety of ways, there are special concerns about how states make decisions to adopt new tests and how they evaluate their current screening panels. Currently, many states are examining their practices. The informatiion in the fact sheets was not designed to advocate specific newborn screening tests but to assist pediatricians in evaluating policies and procedures and in developing appropriate positions based on the needs of their patients and their geographic regions.

PEDIATRICS ◽  
1989 ◽  
Vol 83 (3) ◽  
pp. 449-464 ◽  
Author(s):  

These newborn screening fact sheets were developed by the Committee on Genetics of the American Academy of Pediatrics with considerable assistance and consultation from many individuals. The fact sheets were not designed to advocate specific newborn screening tests but rather to inform pediatricians about these tests. Many states are considering addition of new tests to their screening batteries, whereas others may be reviewing their current screening panel to reduce the number of disorders for which tests are offered. This information should assist pediatricians in developing appropriate positions based on the needs of their patients and of their geographic regions. In addition, the information in these fact sheets may assist the pediatrician in understanding the individual tests, their characteristics, and their strengths and weaknesses. Such information is important for evaluating policies and procedures. Our knowledge base regarding newborn screening is changing rapidly and there are numerous areas of controversy. We have attempted to provide a consensus viewpoint, but it must be recognized that experts in this field do not always agree. Pediatricians who desire additional information should contact the specialists in their region or those involved at a national level. Brief bibliographies have been provided to assist the clarification of some of these points. These fact sheets will require revision in the future. Your comments and suggestions will be appreciated. NOTE ON COST: The costs quoted here are those for the screening tests in a regionalized laboratory. There is a program cost of approximately $1 to $2 for specimen handling, administration, equipment depreciation, and overhead that has been traditionally ascribed to phenylketonuria.


2019 ◽  
Vol 35 (S1) ◽  
pp. 48-48
Author(s):  
Leonor Varela-Lema ◽  
Janet Puñal-Riobóo ◽  
Paula Cantero-Muñoz ◽  
Maria José Faraldo-Vallés

IntroductionDecision making regarding national population-based prenatal and newborn screening policies is recognized to be highly challenging. This paper aims to describe the formalized collaboration that has been established between the Spanish National Public Health Screening Advisory Committee (PHSAC) and the Spanish Network of Health Technology Assessment (HTA) agencies to support the development of evidence- and consensus-based recommendations to support this process.MethodsIn-depth description and analysis of the strategic and methodological processes that have been implemented within the Spanish National Health System prenatal and newborn screening frameworks, with special emphasis on the role, actions, and responsibilities of HTA agencies.ResultsThe role of HTA agencies is threefold: (i) support the PHSAC by providing evidence on safety, effectiveness and cost/effectiveness of the screening tests/strategies, as well as contextualized information regarding costs, organizational, social, legal and ethical issues; (ii) collaborate with the PHSAC in the development of formal evidence- and consensus-based recommendations for defining population screening programs, when required; (iii) analyze real-world data that is generated by piloted programs. This paper will provide real-life examples of how these processes were implemented in practice, with a special focus on the development of the non-invasive prenatal testing (NIPT) policy. Recommendations for NIPT were developed by a multidisciplinary group based on the European network for Health Technology Assessment (EUnetHTA) rapid assessment report and the predictive models that were built using national statistics and other contextualized data.ConclusionsThe current work represents an innovative approach for prenatal and newborn screening policymaking, which are commonly difficult to evaluate due to the low quality of evidence and the confounding public health issues. The paper raises awareness regarding the importance of joint collaborations in areas where evidence is commonly insufficient for decision making.


2021 ◽  
Vol 7 (3) ◽  
pp. 41
Author(s):  
Norma-Jean Simon ◽  
Anne Atkins ◽  
Brianne Miller ◽  
Natasha Bonhomme ◽  
Beth Tarini

Surveys are used to gather a range of data on newborn screening (NBS) processes. We describe the development of a survey about parents’ NBS experiences, in the United States, informed by cognitive pretest interviews among parents with varying NBS test results (true-positive, false-positive, normal). Cognitive pretest interviews were conducted following a semi-structured script and notes were taken to identify problematic survey items. The study team met weekly to discuss pretest feedback, draft changes, and generate revised items. Pretests indicated that parent experiences with NBS are varied and NBS screening procedures are not well understood. Substantial modifications were made to survey questions concerning NBS testing and result communication. Pretesters often associated NBS with other tests/exams/scales—APGAR scores, Ages and Stages questionnaires, and genetic testing during pregnancy. Some pretesters recalled receiving NBS blood spot results during their hospital admission, an uncommon practice, and few recalled knowing results would be provided to them or their pediatrician in the first few weeks of life. Thorough explanations regarding NBS procedures and expectations were embedded within the survey to enhance and improve interpretation of survey questions. Future NBS experience surveys should utilize cognitive pretesting to capture divergent experiences and improve response validity.


PEDIATRICS ◽  
1990 ◽  
Vol 86 (3) ◽  
pp. 486-487
Author(s):  

All newborns discharged from hospitals should be transported home in infant car safety seats that are designed appropriately to safely transport healthy newborns, premature infants, or infants with special needs. Assuring that newborns are restrained properly when riding for the first time sets the stage for continued compliance with a measure that can save their lives or prevent serious injury. Correctly used infant/child safety seats are 71% effective in preventing fatalities due to car crashes, and 67% effective in preventing injury requiring hospitalization.1 With 100% correct use, about 53 000 injuries and 500 deaths could be prevented each year in the United States among children from birth to 4 years of age.2 Although the Every Ride, Safe Ride program of the American Academy of Pediatrics has made major contributions to child passenger safety, including the passage of legislation in all 50 states requiring infants and children to ride properly restrained, newborns continue to be discharged from hospitals without infant car safety seats or in ones that are not being used correctly. A recent study of hospital discharge policies and procedures has shown that only 26% of hospitals with obstetric services have a policy concerning the discharge of newborns in car safety seats. Of those hospitals that have a policy, 64% waive the requirement that newborns be discharged in a car safety seat if the parents do not supply a seat upon discharge.3 A similar study of hospitals accounting for 90% of annual births in Michigan showed that only 24% of hospitals discuss the use of car safety seats with parents, and only 4% demonstrate their use.4


AAOHN Journal ◽  
1998 ◽  
Vol 46 (8) ◽  
pp. 379-384 ◽  
Author(s):  
Claire Snyder ◽  
Peggy N. Schrammel ◽  
Claudia B. Griffiths ◽  
Robert I. Griffiths

Recognition of the mortality and morbidity associated with prostate cancer has resulted in employer based screening programs. This retrospective cohort study identified the employer costs of prostate cancer screening and referrals due to abnormal test results. The subjects were 385 men enrolled in a workplace screening program at a single employer between 1993 and 1995. Screening consisted of digital rectal examination (DRE) annually for enrolled employees aged 40 years and older, plus annual prostate specific antigen (PSA) testing for those 50 and older, and those 40 and older and considered at high risk. Data related to the health care and lost productivity costs of screening and referrals for abnormal test results were collected and analyzed. The total cost of screening was $44,355, or approximately $56 per screening encounter (788 DREs; 437 PSAs). Abnormal screening tests resulted in 52 referrals. Upon further evaluation, 42% were found to have an enlargement, 29% a node, and 12% benign prostatic hyperplasia. Only one malignancy was found. The total cost of additional referrals was $31,815, or 42% of the cost of screening plus referrals. As the cost per screening encounter was low, prostate cancer screening in the workplace is an efficient alternative.


2010 ◽  
Vol 11 (1) ◽  
pp. 48-57 ◽  
Author(s):  
Rebecca Bernstein ◽  
Daniel Dejoseph ◽  
Edward M. Buchanan

Because age alone is not an indicator of health, there is no clear consensus among the various cancer screening guidelines on when to stop cancer screening. For breast, cervical, and colorectal cancer, there are recommended screening tests, while, for other gynecologic cancers, there are not. When discussing with older women patients when to stop cancer screening, we encourage practitioners to review the goals of the screening test, assess the health and functional status of the patient, and discuss her values and health goals. To facilitate this discussion, we review proposed frameworks for determining when to screen older patients for cancer. We also review the concepts of “well” and “frail” older adults. Finally, we review the current screening recommendations for breast, gynecological, and colorectal cancers, and the reasoning behind them, from the United States Preventative Screening Task Force, the American Cancer Society, the American College of Obstetricians and Gynecologists, and the American Geriatric Society.


2016 ◽  
Vol 9 ◽  
pp. CMED.S38247 ◽  
Author(s):  
Ayesha Abid ◽  
Shahla Ahmad ◽  
Abdul Waheed

The number of individuals being diagnosed with type II diabetes in the United States is increasing. The screening tests for diabetes are able to detect the vast majority of diabetics. However, they do not represent the high-risk individuals who may be prone to diabetes at an earlier age. This brief communication looks at the current screening practices and the gaps in the guidelines.


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