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Screening Examination of Premature Infants for Retinopathy of Prematurity.
Fierson WM; AMERICAN ACADEMY OF PEDIATRICS Section on Ophthalmology; AMERICAN ACADEMY OF OPHTHALMOLOGY; AMERICAN ASSOCIATION FOR PEDIATRIC OPHTHALMOLOGY AND STRABISMUS; AMERICAN ASSOCIATION OF CERTIFIED ORTHOPTISTS. Fierson WM, et al. Pediatrics. 2018 Dec;142(6):e20183061. doi: 10.1542/peds.2018-3061. Pediatrics. 2018. PMID: 30478242 Free article. Review.
This statement presents the attributes of an effective program to detect and treat ROP, including the timing of initial and follow-up examinations....
This statement presents the attributes of an effective program to detect and treat ROP, including the timing of initial and follow-up …
Newborn screening for cystic fibrosis.
Castellani C, Massie J, Sontag M, Southern KW. Castellani C, et al. Lancet Respir Med. 2016 Aug;4(8):653-661. doi: 10.1016/S2213-2600(16)00053-9. Epub 2016 Apr 1. Lancet Respir Med. 2016. PMID: 27053341 Review.
Since the late 1970s when the potential of the immunoreactive trypsinogen assay for early identification of infants with cystic fibrosis was first recognised, the performance of newborn blood spot screening (NBS) has been continually assessed and its use has …
Since the late 1970s when the potential of the immunoreactive trypsinogen assay for early identification of infants with cystic fibrosis was …
Newborn screening in mucopolysaccharidoses.
Donati MA, Pasquini E, Spada M, Polo G, Burlina A. Donati MA, et al. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. Ital J Pediatr. 2018. PMID: 30442156 Free PMC article. Review.
Only one infant had transitory elevation of urine glycosaminoglycans (GAGs) (by quantitative analysis) and she is in follow-up at the time of writing. In the North East Italy experience, there was one affected newborn for 66,491 screened. ...Long-term follow- …
Only one infant had transitory elevation of urine glycosaminoglycans (GAGs) (by quantitative analysis) and she is in follow-up at the …
The Current State of Newborn Screening in the United States.
Fabie NAV, Pappas KB, Feldman GL. Fabie NAV, et al. Pediatr Clin North Am. 2019 Apr;66(2):369-386. doi: 10.1016/j.pcl.2018.12.007. Pediatr Clin North Am. 2019. PMID: 30819343 Review.
They also discuss the special considerations and limitations of newborn screening in sick and premature infants and as well as some ethical issues related to newborn screening. Finally, new disorders being considered for testing and new technologies that may …
They also discuss the special considerations and limitations of newborn screening in sick and premature infants and as well as some e …
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia.
Puck JM. Puck JM. Immunol Rev. 2019 Jan;287(1):241-252. doi: 10.1111/imr.12729. Immunol Rev. 2019. PMID: 30565242 Free PMC article. Review.
The development of a T cell receptor excision circle (TREC) assay utilizing dried blood spots (DBS) made possible universal newborn screening (NBS) for severe combined immunodeficiency (SCID) as a public health measure. Upon being flagged by an abnormal screening te …
The development of a T cell receptor excision circle (TREC) assay utilizing dried blood spots (DBS) made possible universal newbor
Newborn Screening: Beyond the Spot.
Urv TK, Parisi MA. Urv TK, et al. Adv Exp Med Biol. 2017;1031:323-346. doi: 10.1007/978-3-319-67144-4_19. Adv Exp Med Biol. 2017. PMID: 29214581 Review.
The newborn screening paradigm of testing all newborns in the United States for treatable conditions within the first few hours of birth has proven to be a remarkable success story in the realm of public health by reducing neonatal and childhood morbidity and mortal …
The newborn screening paradigm of testing all newborns in the United States for treatable conditions within the first few hour …
One Year of Newborn Screening for SMA - Results of a German Pilot Project.
Vill K, Kölbel H, Schwartz O, Blaschek A, Olgemöller B, Harms E, Burggraf S, Röschinger W, Durner J, Gläser D, Nennstiel U, Wirth B, Schara U, Jensen B, Becker M, Hohenfellner K, Müller-Felber W. Vill K, et al. J Neuromuscul Dis. 2019;6(4):503-515. doi: 10.3233/JND-190428. J Neuromuscul Dis. 2019. PMID: 31594245 Free PMC article.
Following positive NBS and confirmatory diagnostic test, treatment was advised according to the recommendations of the "American SMA NBS Multidisciplinary Working Group". Immediate treatment with Nusinersen was recommended in children with 2 and 3 SMN2 copies and a conserv …
Following positive NBS and confirmatory diagnostic test, treatment was advised according to the recommendations of the "American SMA NBS Mul …
Diagnostic Yield of Newborn Screening for Biliary Atresia Using Direct or Conjugated Bilirubin Measurements.
Harpavat S, Garcia-Prats JA, Anaya C, Brandt ML, Lupo PJ, Finegold MJ, Obuobi A, ElHennawy AA, Jarriel WS, Shneider BL. Harpavat S, et al. JAMA. 2020 Mar 24;323(12):1141-1150. doi: 10.1001/jama.2020.0837. JAMA. 2020. PMID: 32207797 Free PMC article.
Final follow-up occurred on July 15, 2019. EXPOSURES: Two-stage screening with direct or conjugated bilirubin measurements. ...MAIN OUTCOMES AND MEASURES: The primary outcomes of the screening study were sensitivity, specificity, positive predictive value, and negative pre …
Final follow-up occurred on July 15, 2019. EXPOSURES: Two-stage screening with direct or conjugated bilirubin measurements. ...MAIN O …
Cystic Fibrosis Diagnosis in Newborns, Children, and Adults.
Castellani C, Linnane B, Pranke I, Cresta F, Sermet-Gaudelus I, Peckham D. Castellani C, et al. Semin Respir Crit Care Med. 2019 Dec;40(6):701-714. doi: 10.1055/s-0039-1697961. Epub 2019 Nov 3. Semin Respir Crit Care Med. 2019. PMID: 31679154 Review.
The diagnosis of cystic fibrosis (CF) has traditionally relied on the presence of clinical features of the disease. Today, diagnosis through newborn screening (NBS) is becoming the standard of modern CF care. ...Some screened newborns are classified as "CF Screening Positi …
The diagnosis of cystic fibrosis (CF) has traditionally relied on the presence of clinical features of the disease. Today, diagnosis through …
The role of exome sequencing in newborn screening for inborn errors of metabolism.
Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, Chen F, Kundu K, Kvale M, Mooney SD, Nussbaum RL, Randi SS, Sanford J, Shieh JT, Srinivasan R, Sunderam U, Tang H, Vaka D, Zou Y, Koenig BA, Kwok PY, Risch N, Puck JM, Brenner SE. Adhikari AN, et al. Nat Med. 2020 Sep;26(9):1392-1397. doi: 10.1038/s41591-020-0966-5. Epub 2020 Aug 10. Nat Med. 2020. PMID: 32778825
Public health newborn screening (NBS) programs provide population-scale ascertainment of rare, treatable conditions that require urgent intervention. ...The NBSeq project evaluated whole-exome sequencing (WES) as an innovative methodology for NBS. We obtained archived resi …
Public health newborn screening (NBS) programs provide population-scale ascertainment of rare, treatable conditions that require urge …
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