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Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.

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Newborn screening

Pathology, 2008
The aim of newborn screening is to detect newborns with serious, treatable disorders so as to facilitate appropriate interventions to avoid or ameliorate adverse outcomes. Mass biochemical testing of newborn babies was pioneered in the 1960s with the introduction of screening for phenylketonuria, a rare inborn error of metabolism, tested by using a ...
Bridget, Wilcken, Veronica, Wiley
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Newborn Screening

Pediatric Clinics of North America, 2023
The goal of newborn screening is to identify medical conditions that can cause significant morbidity and/or mortality if not treated early in life. Pediatricians often play a vital role in the initial disclosure of newborn screening results and coordination of confirmatory testing, treatment, and referral to specialty care.
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Newborn Screening

Pediatrics, 1984
To the Editor.— With publication of recommendations on newborn screening by the Committee on Genetics of the American Academy of Pediatrics1 and now similar recommendations by McCabe et al,2 a consensus on realistic procedures for newborn screening is developing.
H L, Levy, M L, Mitchell, S E, Ridley
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Newborn Screening

Clinics in Perinatology, 2015
Newborn screening is a major aspect of public health success. Babies in every state are tested for a recommended uniform screening panel of conditions not otherwise immediately evident in the first days of life. With the goal of reducing morbidity and mortality, conditions should be added to newborn screening panels using a scientific, evidence-based ...
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Newborn Hearing Screening

2023
The first recommendation for the development and nationwide implementation of "universally applied procedures for early identification and evaluation of hearing impairment" came in 1965 from the Babbidge Report, a report of the Advisory Committee on Education of the Deaf. Efforts have continued since this time to further reduce the age at which a child
Bilici, Taylan   +2 more
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Newborn Thyroid Screening

Archives of Pediatrics & Adolescent Medicine, 1982
Sir .—In their article "Newborn Thyroid Screening in a Municipal Hospital" (Journal1982;136:248-250), Harris and Dreyfus pointed out the following problems that arise from the process of recall of newborns with abnormal screening results: the cost of recall of patients in the overall program, the anxiety for individual families, and the success rate in
J P, Farriaux, J L, Dhondt
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