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Asia-Pacific Journal of Ophthalmology... 2019Retinopathy of prematurity (ROP) is a leading cause of preventable childhood blindness worldwide. Barriers to ROP screening and difficulties with subsequent evaluation... (Review)
Review
Retinopathy of prematurity (ROP) is a leading cause of preventable childhood blindness worldwide. Barriers to ROP screening and difficulties with subsequent evaluation and management include poor access to care, lack of physicians trained in ROP, and issues with objective documentation. Digital retinal imaging can help address these barriers and improve our knowledge of the pathophysiology of the disease. Advancements in technology have led to new, non-mydriatic and mydriatic cameras with wider fields of view as well as devices that can simultaneously incorporate fluorescein angiography, optical coherence tomography (OCT), and OCT angiography. Image analysis in ROP is also being employed through smartphones and computer-based software. Telemedicine programs in the United States and worldwide have utilized imaging to extend ROP screening to infants in remote areas and have shown that digital retinal imaging can be reliable, accurate, and cost-effective. In addition, tele-education programs are also using digital retinal images to increase the number of healthcare providers trained in ROP. Although indirect ophthalmoscopy is still an important skill for screening, digital retinal imaging holds promise for more widespread screening and management of ROP.
Topics: Health Services Accessibility; Humans; Image Processing, Computer-Assisted; Infant, Newborn; Neonatal Screening; Ophthalmoscopy; Reproducibility of Results; Retinopathy of Prematurity; Telemedicine; Tomography, Optical Coherence
PubMed: 31037876
DOI: 10.22608/APO.201963 -
Annals of the Academy of Medicine,... Dec 2008
Topics: Humans; Infant, Newborn; Neonatal Screening
PubMed: 19904442
DOI: No ID Found -
The Journal of Allergy and Clinical... Feb 2021Newborn screening for severe combined immunodeficiency, the most profound form of primary immune system defects, has long been recognized as a measure that would... (Review)
Review
Newborn screening for severe combined immunodeficiency, the most profound form of primary immune system defects, has long been recognized as a measure that would decrease morbidity and improve outcomes by helping patients avoid devastating infections and receive prompt immune-restoring therapy. The T-cell receptor excision circle test, developed in 2005, proved to be successful in pilot studies starting in the period 2008 to 2010, and by 2019 all states in the United States had adopted versions of it in their public health programs. Introduction of newborn screening for severe combined immunodeficiency, the first immune disorder accepted for population-based screening, has drastically changed the presentation of this disorder while providing important lessons for public health programs, immunologists, and transplanters.
Topics: Female; Humans; Infant, Newborn; Male; Neonatal Screening; Severe Combined Immunodeficiency
PubMed: 33551023
DOI: 10.1016/j.jaci.2020.10.020 -
Indian Pediatrics Mar 2014
Topics: Family; Hearing Loss; Hearing Tests; Humans; Infant, Newborn; Neonatal Screening; Otolaryngology; Pediatrics; Physicians
PubMed: 24736903
DOI: 10.1007/s13312-014-0367-2 -
Journal of Clinical Immunology Jan 2018The primary objective of population-based newborn screening is the early identification of asymptomatic infants with a range of severe diseases, for which effective... (Review)
Review
The primary objective of population-based newborn screening is the early identification of asymptomatic infants with a range of severe diseases, for which effective treatment is available and where early diagnosis and intervention prevent serious sequelae. Primary immunodeficiency diseases (PID) are a heterogeneous group of inborn errors of immunity. Severe combined immunodeficiency (SCID) is one form of PID which is uniformly fatal without early, definitive therapy, and outcomes are significantly improved if infants are diagnosed and treated within the first few months of life. Screening for SCID using T cell receptor excision circle (TREC) analysis has been introduced in many countries worldwide. The utility of additional screening with kappa recombining excision circles (KREC) has also been described, enabling identification of infants with severe forms of PID manifested by T and B cell lymphopenia. Here, we review the early origins of newborn screening and the evolution of screening methodologies. We discuss current strategies employed in newborn screening programs for PID, including TREC and TREC/KREC-based screening, and consider the potential future role of protein-based assays, targeted sequencing, and next generation sequencing (NGS) technologies, including whole genome sequencing (WGS).
Topics: B-Lymphocytes; Early Diagnosis; History, 19th Century; History, 20th Century; History, 21st Century; Humans; Immunity; Immunologic Deficiency Syndromes; Infant; Infant, Newborn; Lymphopenia; Neonatal Screening; Receptors, Antigen, B-Cell; Receptors, Antigen, T-Cell; T-Lymphocytes
PubMed: 29116556
DOI: 10.1007/s10875-017-0455-x -
JAMA Pediatrics Jul 2019
Review
Topics: Global Health; Humans; Hyperbilirubinemia, Neonatal; Incidence; Infant, Newborn; Neonatal Screening
PubMed: 31107538
DOI: 10.1001/jamapediatrics.2019.1194 -
American Family Physician Jun 2017
Topics: Humans; Infant, Newborn; Infant, Newborn, Diseases; Neonatal Screening; Parents
PubMed: 28671446
DOI: No ID Found -
The Journal of Perinatal & Neonatal... 2020Midwifery and nursing are collaborative partners in both education and practice. Understanding needs and barriers to clinical services such as newborn screening is...
Midwifery and nursing are collaborative partners in both education and practice. Understanding needs and barriers to clinical services such as newborn screening is essential. This study examined knowledge and attitudes of midwives and out-of-hospital-birth parents about newborn blood spot screening (NBS). Descriptive and cross-sectional surveys were distributed to midwives and out-of-hospital-birth parents from birth center registries and the Utah Health Department of Vital Records. Seventeen midwife surveys (response rate: 17%) and 113 parent surveys (response rate: 31%) were returned. Most midwives and out-of-hospital-birth parents reported satisfactory knowledge scores about NBS. Only 5% of parents (n = 6) did not participate in NBS. Most midwives reported that NBS is important and encouraged patients to consider undergoing NBS. Some concerns included the lack of education for both midwives and out-of-hospital patients and the trauma and accuracy of the heel prick soon after birth. Both midwives and out-of-hospital-birth parents expressed a need for improved NBS education. Additional studies are needed to ascertain whether this trend is seen with similar populations throughout the United States, to further elucidate the factors that drive NBS nonparticipation, and to develop educational resources for midwives and their patients.
Topics: Adult; Cross-Sectional Studies; Female; Health Knowledge, Attitudes, Practice; Home Childbirth; Humans; Infant, Newborn; Midwifery; Needs Assessment; Neonatal Screening; Parents; Pregnancy; United States
PubMed: 33079810
DOI: 10.1097/JPN.0000000000000525 -
American Family Physician Jun 2017Each year, 4 to 5 million newborns receive state-mandated screening. Although the Advisory Committee on Heritable Disorders in Newborns and Children has identified 34... (Review)
Review
Each year, 4 to 5 million newborns receive state-mandated screening. Although the Advisory Committee on Heritable Disorders in Newborns and Children has identified 34 core conditions that should be incorporated into screening programs, each state manages, funds, and maintains its own program. State programs encompass screening, as well as the diagnosis and coordination of care for newborns with positive findings. Testing for core disorders is fairly standardized, but more extensive screening varies widely by state, and the rigorous evaluation of new screening panels is ongoing. The core panel includes testing for three main categories of disorders: metabolic disorders (e.g., amino acid and urea cycle, fatty acid oxidation, and organic acid disorders); hemoglobinopathies; and a group of assorted conditions, including congenital hearing loss. Family physicians must be familiar with the expanded newborn screening tests to effectively communicate results to parents and formulate interventions. They must also recognize signs of metabolic disorders that may not be detected by screening tests or that may not be a part of standard newborn screening in their state. For infants with positive screening results leading to diagnosis, long-term follow-up involves ongoing parental education, regular medical examinations, management at a metabolic treatment center, and developmental and neuropsychological testing to detect associated disorders in time for early intervention.
Topics: Child Health Services; Congenital Abnormalities; Genetic Diseases, Inborn; Humans; Infant, Newborn; Infant, Newborn, Diseases; Neonatal Screening; Physicians, Family; Practice Patterns, Physicians'; United States
PubMed: 28671437
DOI: No ID Found -
Genetics in Medicine : Official Journal... Mar 2016
Topics: Genetic Predisposition to Disease; Genome, Human; Humans; Infant, Newborn; Neonatal Screening; Precision Medicine; Sequence Analysis, DNA
PubMed: 26681311
DOI: 10.1038/gim.2015.172