The Sixth Month

2019 ◽  
pp. 79-90
Author(s):  
Vanessa LoBue
Keyword(s):  
Newborn Screening ◽  
Screening Tests ◽  
The Third

This chapter describes the development of the fetus in the sixth month of pregnancy. As the third and final trimester approaches, the author is distinctly aware of her pregnancy with her growing size and the fetus’s forceful and distinct movements. She describes the fetus’s kicking behavior and a variety of reflexes that are fully developed in the fetus by the sixth month of pregnancy, including rooting, sucking, and grasping. She goes on to discuss the appearance of newborn reflexes at birth and why these reflexes disappear in the first few months of life, using detailed research on the stepping reflex as an example. She concludes by discussing other important newborn screening tests, including the APGAR and PKU testing.

PP58 The Alliance Between Health Technology Assessment And Public Health In National Screening Policies

2019 ◽  
Vol 35 (S1) ◽  
pp. 48-48
Author(s):  
Leonor Varela-Lema ◽  
Janet Puñal-Riobóo ◽  
Paula Cantero-Muñoz ◽  
Maria José Faraldo-Vallés
Keyword(s):  
Public Health ◽  
Decision Making ◽  
Newborn Screening ◽  
Health Technology Assessment ◽  
Technology Assessment ◽  
National Health System ◽  
Health Technology ◽  
Screening Tests ◽  
Special Focus ◽  
Screening Programs

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.

Newborn Screening for Cystic Fibrosis

PEDIATRICS ◽  
1991 ◽  
Vol 87 (6) ◽  
pp. 954-955
Author(s):  
IAN C. T. LYON ◽  
DIANNE R. WEBSTER
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Elevated Level ◽  
Meconium Ileus ◽  
Screening Tests ◽  
Initial Screening ◽  
False Negatives ◽  
Immunoreactive Trypsinogen

To the Editor.— The report on newborn screening for cystic fibrosis1 illustrates the need for continued evaluation of such programs. The authors state that the identification of cases of cystic fibrosis (CF) by an elevated level of immunoreactive trypsinogen (IRT) in second (follow-up) samples from infants with positive initial screening tests could result in false negatives in 27% of cases of cystic fibrosis without meconium ileus (MI). We have screened 401 122 infants using the method originally reported.2

scholarly journals The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health

2021 ◽  
Vol 9 ◽  
Author(s):  
Audrey C. Woerner ◽  
Renata C. Gallagher ◽  
Jerry Vockley ◽  
Aashish N. Adhikari
Keyword(s):  
Newborn Screening ◽  
Exome Sequencing ◽  
Genetic Disorders ◽  
Population Based ◽  
Lessons Learned ◽  
Screening Tests ◽  
Whole Genome ◽  
Whole Exome ◽  
Challenges And Opportunities ◽  
History Of

Newborn screening (NBS) is a population-based program with a goal of reducing the burden of disease for conditions with significant clinical impact on neonates. Screening tests were originally developed and implemented one at a time, but newer methods have allowed the use of multiplex technologies to expand additions more rapidly to standard panels. Recent improvements in next-generation sequencing are also evolving rapidly from first focusing on individual genes, then panels, and finally all genes as encompassed by whole exome and genome sequencing. The intersection of these two technologies brings the revolutionary possibility of identifying all genetic disorders in newborns, allowing implementation of therapies at the optimum time regardless of symptoms. This article reviews the history of newborn screening and early studies examining the use of whole genome and exome sequencing as a screening tool. Lessons learned from these studies are discussed, along with technical, ethical, and societal challenges to broad implementation.

scholarly journals Preliminary Proficiency Testing Results for Succinylacetone in Dried Blood Spots for Newborn Screening for Tyrosinemia Type I

2009 ◽  
Vol 55 (12) ◽  
pp. 2207-2213 ◽  
Author(s):  
Barbara W Adam ◽  
Timothy H Lim ◽  
Elizabeth M Hall ◽  
W Harry Hannon
Keyword(s):  
Newborn Screening ◽  
Proficiency Testing ◽  
False Negative ◽  
Dried Blood Spots ◽  
Screening Tests ◽  
Type I ◽  
Primary Metabolite ◽  
Screening Practices ◽  
Tyrosinemia Type I ◽  
Stable Performance

Abstract Background: Succinylacetone (SUAC) is the primary metabolite accumulated in tyrosinemia type I—an inborn error of metabolism that, if untreated, can cause death from liver failure during the first months of life. Newborn screening laboratories measure SUAC in dried blood spot (DBS) samples to detect asymptomatic tyrosinemia type I. We used panels of SUAC-enriched DBSs to compare and evaluate the performance of these screening tests. Methods: We prepared sets of DBS materials enriched with predetermined SUAC concentrations and distributed samples of these materials, along with a screening practices questionnaire, to laboratories that perform SUAC tests. We compared their reported SUAC concentrations and questionnaire responses to identify screening practices that affect SUAC test outcomes. Results: Data from 2 pilot surveys showed large differences among laboratories in SUAC recoveries, reproducible within-laboratory recoveries, and stable performance of the DBS materials. Results from 257 proficiency test analyses contained a total of 6 false-negative misclassifications. Reported recoveries of added SUAC ranged from 0 to >200%. Low-biased SUAC recoveries were associated with 1 method used by 5 laboratories. All laboratories that reported SUAC recoveries ≥100% used DBS matrix calibrators. Conclusions: The wide ranges of SUAC concentrations reported for pilot and proficiency testing specimens demonstrate a need to harmonize quantitative results among laboratories. Although DBS matrix calibrators are important for optimizing SUAC recoveries, the preparation of these calibrators is not standardized among laboratories. Certified DBS-based SUAC calibrators are needed for accuracy and harmonization.

scholarly journals Rectal Atresia and Congenital Hypothyroidism: An Association or Coincidence?

2018 ◽  
Vol 06 (01) ◽  
pp. e7-e10
Author(s):  
Feride Mehmetoğlu
Keyword(s):  
Surgical Treatment ◽  
Thyroid Hormones ◽  
Newborn Screening ◽  
Congenital Hypothyroidism ◽  
Anorectal Malformation ◽  
Screening Tests ◽  
Unique Case ◽  
Rectal Atresia ◽  
Three Stages

AbstractRectal atresia is a rare anorectal malformation, and its association with other anomalies is even more rare. This study presents a unique case of co-twin in which the surviving newborn male underwent surgery due to rectal atresia. Newborn screening tests identified congenital hypothyroidism. The surgical treatment consisted of three stages and thyroid hormones were replaced.

Newborn Screening Fact Sheets

PEDIATRICS ◽  
1996 ◽  
Vol 98 (3) ◽  
pp. 473-501 ◽  
Keyword(s):  
Newborn Screening ◽  
The United States ◽  
Screening Tests ◽  
Test Results ◽  
Screening Programs ◽  
American Academy Of Pediatrics ◽  
Policies And Procedures ◽  
Children And Parents ◽  
The Individual ◽  
Current Screening

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.

Neonatal Screening for Cystic Fibrosis: Position Paper

PEDIATRICS ◽  
1983 ◽  
Vol 72 (5) ◽  
pp. 741-745 ◽  
Author(s):  
◽  
Lynn M. Taussig ◽  
Thomas F. Boat ◽  
Delbert Dayton ◽  
Norman Fost ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Neonatal Screening ◽  
Task Force ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Screening Tests ◽  
Current Status ◽  
Screening Methods ◽  
Asymptomatic Patients

Neonatal screening represents the search for a disorder in a general newborn population. The purpose of screening may be to improve the health of the affected infant, to provide counseling, or for research. Screening tests have been widely accepted for conditions such as phenylketonuria, hypothyroidism, and other metabolic conditions. Cystic fibrosis (CF) is the most common lethal genetic disorder among the white population (with a lower incidence among blacks), and thus there has been interest in screening newborns for CF1 However, proposals emanating from this interest have remained controversial.2-4 The recent development of a relatively simple test—the dried blood immuno-reactive trypsinogen (IRT) assay—has increased this interest.5-12 Besides considering technical reliability and validity of newborn screening methods, it is crucial that all other aspects of screening (including medical, ethical, psychosocial, and economic aspects) be rigorously examined before implementing mass screening.13-15 To address these issues the Cystic Fibrosis Foundation convened a Task Force on Neonatal Screening. Although the Task Force considered the current status of the IRT test, it focused on the generally accepted criteria for newborn screening, summarized in the Table,14 and the relationship of these criteria to the present state of knowledge related to CF. The issues identified by the Task Force, are summarized in this paper, and recommendations are presented at the conclusion. EFFECTIVENESS OF PRESYMPTOMATIC TREATMENT Evidence suggesting that the initiation of treatment before clinical manifestations of CF first appear improves prognosis has been controversial. Whereas some studies have yielded supportive data,16 others have not.4 There are no generally accepted treatment protocols for use in symptomatic or asymptomatic patients.

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