References:
1. Ministry of Health of the People’s Republic of China. The report on
prevention and treatment of birth defects- Ministry of Public Health of
China. 2012,http://www.gov.cn/gzdt/2012-09/12/content_2223371.htm.
2. World Health Organization, Sixty-third World Health Assembly, Birth
defects. 2010.
3. Zhou WH, Zhao ZY. [Genomic newborn screening: opportunities and
challenges]. Zhonghua er ke za zhi = Chinese journal of
pediatrics. 2021;59(7):541-544.
4. Fabie NAV, Pappas KB, Feldman GL. The Current State of Newborn
Screening in the United States. Pediatric clinics of North
America. 2019;66(2):369-386.
5. Guthrie R, Susi A. A SIMPLE PHENYLALANINE METHOD FOR DETECTING
PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.Pediatrics. 1963;32:338-343.
6. Wilson JM, Jungner YG. [Principles and practice of mass screening
for disease]. Boletin de la Oficina Sanitaria Panamericana Pan
American Sanitary Bureau. 1968;65(4):281-393.
7. Rajabi F. Updates in Newborn Screening. 2018;47(5):e187-e190.
8. Newborn screening: toward a uniform screening panel and
system–executive summary. Pediatrics. 2006;117(5 Pt
2):S296-307.
9. Zhan JY, Qin YF, Zhao ZY. Neonatal screening for congenital
hypothyroidism and phenylketonuria in China. World journal of
pediatrics : WJP. 2009;5(2):136-139.
10. Ombrone D, Giocaliere E, Forni G, Malvagia S, la Marca G. Expanded
newborn screening by mass spectrometry: New tests, future perspectives.Mass spectrometry reviews. 2016;35(1):71-84.
11. Mendell JR, Shilling C, Leslie ND, et al. Evidence-based path to
newborn screening for Duchenne muscular dystrophy. Annals of
neurology. 2012;71(3):304-313.
12. Slaughter JL, Meinzen-Derr J, Rose SR, et al. The effects of
gestational age and birth weight on false-positive newborn-screening
rates. Pediatrics. 2010;126(5):910-916.
13. Rizvi H, Sanchez-Vega F, La K, et al. Molecular Determinants of
Response to Anti-Programmed Cell Death (PD)-1 and Anti-Programmed
Death-Ligand 1 (PD-L1) Blockade in Patients With Non-Small-Cell Lung
Cancer Profiled With Targeted Next-Generation Sequencing. Journal
of clinical oncology : official journal of the American Society of
Clinical Oncology. 2018;36(7):633-641.
14. Han D, Li Z, Li R, Tan P, Zhang R, Li J. mNGS in clinical
microbiology laboratories: on the road to maturity. Critical
reviews in microbiology. 2019;45(5-6):668-685.
15. Swedish Council on Health Technology A. SBU Systematic Review
Summaries. In: Prenatal Diagnosis Through Next Generation
Sequencing (NGS). Stockholm: Swedish Council on Health Technology
Assessment (SBU)Copyright © 2016 by the Swedish Council on Health
Technology Assessment.; 2016.
16. Willig LK, Petrikin JE, Smith LD, et al. Whole-genome sequencing for
identification of Mendelian disorders in critically ill infants: a
retrospective analysis of diagnostic and clinical findings. The
Lancet Respiratory medicine. 2015;3(5):377-387.
17. Holm IA, Agrawal PB, Ceyhan-Birsoy O, et al. The BabySeq project:
implementing genomic sequencing in newborns. BMC pediatrics.2018;18(1):225.
18. Roman TS, Crowley SB, Roche MI, et al. Genomic Sequencing for
Newborn Screening: Results of the NC NEXUS Project. American
journal of human genetics. 2020;107(4):596-611.
19. Lin Y, Zhang W, Huang C, et al. Increased detection of primary
carnitine deficiency through second-tier newborn genetic screening.Orphanet journal of rare diseases. 2021;16(1):149.
20. Parad RB, Kaler SG, Mauceli E, Sokolsky T, Yi L, Bhattacharjee A.
Targeted next generation sequencing for newborn screening of Menkes
disease. Molecular genetics and metabolism reports.2020;24:100625.
21. Meng L, Pammi M, Saronwala A, et al. Use of Exome Sequencing for
Infants in Intensive Care Units: Ascertainment of Severe Single-Gene
Disorders and Effect on Medical Management. JAMA pediatrics.2017;171(12):e173438.
22. Zhu T, Gong X, Bei F, et al. Application of Next-Generation
Sequencing for Genetic Diagnosis in Neonatal Intensive Care Units:
Results of a Multicenter Study in China. Frontiers in genetics.2020;11:565078.
23. Ceyhan-Birsoy O, Machini K, Lebo MS, et al. A curated gene list for
reporting results of newborn genomic sequencing. Genetics in
medicine : official journal of the American College of Medical
Genetics. 2017;19(7):809-818.
24. Milko LV, O’Daniel JM, DeCristo DM, et al. An Age-Based Framework
for Evaluating Genome-Scale Sequencing Results in Newborn Screening.The Journal of pediatrics. 2019;209:68-76.
25. Yu X, Lin Y, Wu H. Targeted Next-Generation Sequencing Identifies
Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical
Manifestations for the p.R161C Mutation in SOX10. Neural
plasticity. 2020;2020:8860837.
26. Oliveros JC-VAitfclwVsdhbccetvih.
27. Adhikari AN, Gallagher RC, Wang Y, et al. The role of exome
sequencing in newborn screening for inborn errors of metabolism.Nature medicine. 2020;26(9):1392-1397.
28. Murry JB, Machini K, Ceyhan-Birsoy O, et al. Reconciling newborn
screening and a novel splice variant in BTD associated with partial
biotinidase deficiency: a BabySeq Project case report. Cold Spring
Harbor molecular case studies. 2018;4(4).
29. Bodian DL, Klein E, Iyer RK, et al. Utility of whole-genome
sequencing for detection of newborn screening disorders in a population
cohort of 1,696 neonates. Genetics in medicine : official journal
of the American College of Medical Genetics. 2016;18(3):221-230.
30. Stark Z, Tan TY, Chong B, et al. A prospective evaluation of
whole-exome sequencing as a first-tier molecular test in infants with
suspected monogenic disorders. Genetics in medicine : official
journal of the American College of Medical Genetics.2016;18(11):1090-1096.
31. Ceyhan-Birsoy O, Murry JB, Machini K, et al. Interpretation of
Genomic Sequencing Results in Healthy and Ill Newborns: Results from the
BabySeq Project. American journal of human genetics.2019;104(1):76-93.
32. Petrikin JE, Cakici JA, Clark MM, et al. The NSIGHT1-randomized
controlled trial: rapid whole-genome sequencing for accelerated
etiologic diagnosis in critically ill infants. NPJ genomic
medicine. 2018;3:6.
33. van Campen JC, Sollars ESA, Thomas RC, et al. Next Generation
Sequencing in Newborn Screening in the United Kingdom National Health
Service. International journal of neonatal screening.2019;5(4):40.
34. Hao C, Guo R, Hu X, et al. Newborn screening with targeted
sequencing: A multi-center investigation and a pilot clinical study in
China. Journal of genetics and genomics = Yi chuan xue bao. 2021.
35. de Castro MJ, González-Vioque E, Barbosa-Gouveia S, et al. Rapid
Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic
Tool for Critically Ill Newborns with Suspected Genetic Disease.Journal of clinical medicine. 2020;9(8).
36. Luo X, Sun Y, Xu F, et al. A pilot study of expanded newborn
screening for 573 genes related to severe inherited disorders in China:
results from 1,127 newborns. Annals of translational medicine.2020;8(17):1058.
37. Gregg AR, Aarabi M, Klugman S, et al. Screening for autosomal
recessive and X-linked conditions during pregnancy and preconception: a
practice resource of the American College of Medical Genetics and
Genomics (ACMG). Genetics in medicine : official journal of the
American College of Medical Genetics. 2021;23(10):1793-1806.
38. Breveglieri G, D’Aversa E, Finotti A, Borgatti M. Non-invasive
Prenatal Testing Using Fetal DNA. Molecular diagnosis & therapy.2019;23(2):291-299.
39. Huang X, Wu D, Zhu L, et al. Application of a next-generation
sequencing (NGS) panel in newborn screening efficiently identifies
inborn disorders of neonates. Orphanet journal of rare diseases.2022;17(1):66.
40. Wang X, Wang YY, Hong DY, et al. Combined genetic screening and
traditional biochemical screening to optimize newborn screening systems.Clinica chimica acta; international journal of clinical
chemistry. 2022;528:44-51.
41. Tong F, Wang J, Xiao R, et al. Application of next generation
sequencing in the screening of monogenic diseases in China, 2021: a
consensus among Chinese newborn screening experts. World journal
of pediatrics : WJP. 2022;18(4):235-242.
42. Zhang J, Walsh MF, Wu G, et al. Germline Mutations in Predisposition
Genes in Pediatric Cancer. The New England journal of medicine.2015;373(24):2336-2346.
43. Qian Q, Cheng R, Li M, et al. Prevalence of atopic dermatitis,
ichthyosis and filaggrin mutations in adolescents in a middle school in
Shanghai. 2015;48:629-632.
44. Palmer CN, Irvine AD, Terron-Kwiatkowski A, et al. Common
loss-of-function variants of the epidermal barrier protein filaggrin are
a major predisposing factor for atopic dermatitis. Nature
genetics. 2006;38(4):441-446.
45. Koohiyan M, Koohian F, Azadegan-Dehkordi F. GJB2-related hearing
loss in central Iran: Review of the spectrum and frequency of gene
mutations. Annals of human genetics. 2020;84(2):107-113.
46. Shen J, Oza AM, Del Castillo I, et al. Consensus interpretation of
the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing
Loss Expert Panel. Genetics in medicine : official journal of the
American College of Medical Genetics. 2019;21(11):2442-2452.
47. Genomic Screening in Newborns Holds Promise, Challenges: Results of
the BabySeq Project demonstrate the potential of newborn genomic
screening, but challenges remain. American journal of medical
genetics Part A. 2019;179(4):519-520.
48. Berg JS, Agrawal PB, Bailey DB, Jr., et al. Newborn Sequencing in
Genomic Medicine and Public Health. Pediatrics. 2017;139(2).
49. Murdock DR, Dai H, Burrage LC, et al. Transcriptome-directed
analysis for Mendelian disease diagnosis overcomes limitations of
conventional genomic testing. The Journal of clinical
investigation. 2021;131(1).
50. Holm IA, McGuire A, Pereira S, Rehm H, Green RC, Beggs AH. Returning
a Genomic Result for an Adult-Onset Condition to the Parents of a
Newborn: Insights From the BabySeq Project. Pediatrics.2019;143(Suppl 1):S37-s43.
51. Ross LF, Clayton EW. Ethical Issues in Newborn Sequencing Research:
The Case Study of BabySeq. Pediatrics. 2019;144(6).
52. Wojcik MH, Zhang T, Ceyhan-Birsoy O, et al. Discordant results
between conventional newborn screening and genomic sequencing in the
BabySeq Project. Genetics in medicine : official journal of the
American College of Medical Genetics. 2021;23(7):1372-1375.
53. Seaby EG, Ennis S. Challenges in the diagnosis and discovery of rare
genetic disorders using contemporary sequencing technologies.Briefings in functional genomics. 2020;19(4):243-258.