Неонатальный скрининг в геномную эру: расширение возможностей тандемной масс-спектрометрии

1. Aktuğlu Zeybek A.Ç. Newborn screening: from the past to the future. Turk. Arch. Pediatr. 2022; 57(5): 473-5. https://dx.doi.org/10.5152/TurkArchPediatr.2022.16082022
2. Bhattacharya K., Wotton T., Wiley V. The evolution of blood-spot newborn screening. Transl. Pediatr. 2014; 3(2): 63-70. https://dx.doi.org/10.3978/j.issn.2224-4336.2014.03.08
3. Ding S., Han L. Newborn screening for genetic disorders: current status and prospects for the future. Pediatr Investig. 2022; 6(4): 291-8. https://dx.doi.org/10.1002/ped4.12343
4. Almannai M., Marom R., Reid Sutton V. Newborn screening: A review of history, recent advancements, and future perspectives in the era of next generation sequencing. Curr. Opin. Pediatr. 2016; 28(6): 694-9. https://dx.doi.org/10.1097/MOP.0000000000000414
5. Guthrie R., Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics. 1963; 32: 338-43.
6. Guthrie R. The origin of newborn screening. Screening. 1992; 1: 5-15. https://dx.doi.org/10.1016/0925-6164(92)90025-z
7. Beutler E., Baluda M., Donnell G.N. A new method for the detection of galactoxemia and its carrier state. J. Lab. Clin. Med. 1964; 64: 694-705
8. Efron M.L., Young D., Moser H. W., MacCready R.A. A simple chromatographic screening test for the detection of disorders of amino acid metabolism. A technic using whole blood or urine collected on filter paper. N. Engl. J. Med. 1964; 270: 1378-83. https://dx.doi.org/10.1056/NEJM196406252702602
9. Naylor E.W., Guthrie R. Newborn screening for maple syrup urine disease (branched-chain ketoaciduria). Pediatrics. 1978; 61(2): 262-6.
10. Taranger J., Berglund G., Claesson I., Victorin L. Screening for congenital hypothyroidism in the newborn. Lancet. 1973; 1(7801): 487. https://dx.doi.org/10.1016/s0140-6736(73)91914-4
11. Pang S., Hotchkiss J., Drash A.L., Levine L.S., New M.I. Microfilter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab. 1977; 45(5): 1003-8. https://dx.doi.org/10.1210/jcem-45-5-1003
12. Millington D.S., Kodo N., Norwood D.L., Roe C.R. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J. Inherit. Metab. Dis. 1990; 13(3): 321-4. https://dx.doi.org/10.1007/BF01799385
13. Simonsen H., Jensen U.G., Brandt N.J., Christensen E., Skovby F., Nørgaard-Pedersen B. Design of a pilot study to evaluate tandem mass spectrometry for neonatal screening. Southeast Asian J. Trop. Med. Public Health. 1999; 30 Suppl. 2: 166-9.
14. Chace D.H., Kalas T.A., Naylor E.W. Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns. Clin. Chem. 2003; 49(11): 1797-817. https://dx.doi.org/10.1373/clinchem.2003.022178
15. Kononets V., Zharmakhanova G., Balmagambetova S., Syrlybayeva L., Berdesheva G., Zhussupova Z. et al. Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis. Front. Pediatr. 2025; 13: 1463294. https://dx.doi.org/10.3389/fped.2025.1463294
16. Rinaldo P., Lim J., Tortorelli S., Gavrilov D., Matern D. Newborn screening of metabolic disorders: recent progress and future developments. Nestle Nutr. Work. Ser. Pediatr. Progr. 2008; 62: 81-93. https://dx.doi.org/10.1159/000146253
17. Gelb M.H. Newborn screening for lysosomal storage diseases: Methodologies, screen positive rates, normalization of datasets, second-tier tests, and post-analysis tools. Int. J. Neonatal Screen. 2018; 4(3): 23. https://dx.doi.org/10.3390/ijns4030023
18. Buckley R.H. The long quest for neonatal screening for severe combined immunodeficiency. J. Allergy Clin. Immunol. 2012; 129(3): 597-604. https://dx.doi.org/10.1016/j.jaci.2011.12.964
19. la Marca G., Carling R.S., Moat S.J., Yahyaoui R., Ranieri E., Bonham J.R. et al. Current state and innovations in newborn screening: continuing to do good and avoid harm. Int. J. Neonatal Screen. 2023; 9(1): 15. https://dx.doi.org/10.3390/ijns9010015
20. Hanley W.B., Demshar H., Preston M.A., Borczyk A., Schoonheyt W.E., Clarke J.T. et al. Newborn phenylketonuria (PKU) Guthrie (BIA) screening and early hospital discharge. Early Hum. Dev. 1997; 47(1): 87-96. https://dx.doi.org/10.1016/s0378-3782(96)01846-4
21. Gerasimova N.S., Samutin A.A., Steklova I.V., Tuuminen T. Phenylketonuria screening in Moscow using a microplate fluorometric method. Screening. 1992; 1(1): 27-35. https://dx.doi.org/10.1016/0925-6164(92)90027-3
22. Medical Advisory Secretariat. Neonatal screening of inborn errors of metabolism using tandem mass spectrometry: an evidence-based analysis. Ont. Health Technol. Assess. Ser. 2003; 3(3): 1-36.
23. Pandor A., Eastham J., Chilcott J., Paisley S., Beverley C. Newborn screening using tandem mass spectrometry: a systematic review. Discussion Paper. (Unpublished). White Rose Research Online. 2006. Available at: https://eprints.whiterose.ac.uk/id/eprint/10925/
24. Berardo C., Vasco A., Mauri A., Lucchi S., Cappelletti L., Saielli L. et al. Expanded newborn screening in Italy: the first report of Lombardy Region. Int. J. Neonatal Screening. 2025; 11(2): 31. https://dx.doi.org/10.3390/ijns11020031
25. Messina M., Meli C., Raudino F., Pittalá A., Arena A., Barone R. et al. Expanded newborn screening using tandem mass spectrometry: seven years of experience in eastern Sicily. Int. J. Neonatal Screen. 2018; 4(2): 12. https://dx.doi.org/10.3390/ijns4020012
26. Millington D.S., Stevens R.D. Acylcarnitines: analysis in plasma and whole blood using tandem mass spectrometry. Methods Mol. Biol. 2011; 708: 55-72. https://dx.doi.org/10.1007/978-1-61737-985-7_3
27. Schnabel E., Kölker S., Gleich F., Feyh P., Hörster F., Haas D. et al. Combined newborn screening allows comprehensive identification also of attenuated phenotypes for methylmalonic acidurias and homocystinuria. Nutrients. 2023; 15(15): 3355. https://dx.doi.org/10.3390/nu15153355
28. Schwarz E., Liu A., Randall H., Haslip C., Keune F., Murray M. et al. Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience. Pediatr. Res. 2009; 66(2): 230-5. https://dx.doi.org/10.1203/PDR.0b013e3181aa3777
29. Gelb M.H., Basheeruddin K., Burlina A., Chen H.J., Chien Y.H., Dizikes G. et al. Liquid chromatography-tandem mass spectrometry in newborn screening laboratories. Int. J. Neonatal Screen. 2022; 8(4): 62. https://dx.doi.org/10.3390/ijns8040062
30. Watson M.S., Lloyd-Puryear M.A., Howell R.R. The progress and future of US newborn screening. Int. J. Neonatal Screen. 2022; 8(3): 41. https://dx.doi.org/10.3390/ijns8030041
31. Воронин С.В., Куцев С.И. Неонатальный скрининг на наследственные заболевания в России: вчера, сегодня, завтра. Неонатология: новости, мнения, обучение. 2022; 10(4): 34-9.
32. Ефимова Е.Ю., Мухина А.А., Балинова Н.В., Матулевич С.А., Першин Д.Е., Хорева А.Л., Марахонов А.В., Воронин С.В., Зинченко Р.А., Щербина А.Ю., Куцев С.И. Неонатальный скрининг на первичные иммунодефицитные состояния как способ выявления синдромальных форм патологии новорожденных: клинический случай синдрома 22q11.2DS. Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2022; 21(4): 158-62.
33. Воронин С.В., Захарова Е.Ю., Байдакова Г.В., Марахонов А.В., Щагина О.А., Рыжкова О.П., Шилова Н.В., Румянцев А.Г., Щербина А.Ю., Мухина А.А., Новичкова Г.А., Шешко Е.Л., Сахарова В.В., Ляхова Е.А., Ефимова И.Ю., Куцев С.И. Расширенный неонатальный скрининг на наследственные заболевания в России: первые итоги и перспективы. Педиатрия им. Г.Н. Сперанского. 2024; 103(1): 16-29.
34. Therrell B.L., Padilla C.D., Borrajo G.J.C., Khneisser I., Schielen P.C.J.I., Knight-Madden J. et al. Current status of newborn bloodspot screening worldwide 2024: a comprehensive review of recent activities (2020–2023). Int. J. Neonatal Screen. 2024; 10(2): 38. https://dx.doi.org/10.3390/ijns10020038
35. Borrajo G.J.C. Newborn screening in Latin America: a brief overview of the state of the art. Am. J. Med. Genet. C Semin. Med. Genet. 2021; 187(3): 322-8. https://dx.doi.org/10.1002/ajmg.c.31899
36. Bean K., Jones S.A., Chakrapani A., Vijay S., Wu T., Church H. et al. Exploring the cost-effectiveness of newborn screening for metachromatic leukodystrophy (MLD) in the UK. Int. J. Neonatal Screen. 2024; 10(3): 45. https://dx.doi.org/10.3390/ijns10030045
37. Kilgore M.B., Platis D., Lim T., Isenberg S., Pickens C.A., Cuthbert C. et al. Development of a universal second-Tier newborn screening LC-MS/MS method for amino acids, lysophosphatidylcholines, and organic acids. Anal. Chem. 2023; 95(6): 3187-94. https://dx.doi.org/10.1021/acs.analchem.2c03098
38. Chen L., Dean B., Liang X. A technical overview of supercritical fluid chromatography-mass spectrometry (SFC-MS) and its recent applications in pharmaceutical research and development. Drug Discov. Today Technol. 2021; 40: 69-75. https://dx.doi.org/10.1016/j.ddtec.2021.10.002
39. Luo X., Wang R., Fan Y., Gu X., Yu Y. Next-generation sequencing as a second-tier diagnostic test for newborn screening. J. Pediatr. Endocrinol. Metab. 2018; 31(8): 927-31. https://dx.doi.org/10.1515/jpem-2018-0088
40. Chan T.C.H., Mak C.M., Yeung M.C.W., Law E.C.Y., Cheung J., Wong T.K. et al. Harnessing next-generation sequencing as a timely and accurate second-tier screening test for newborn screening of inborn errors of metabolism. Int. J. Neonatal Screen. 2024; 10(1): 19. https://dx.doi.org/10.3390/ijns10010019
41. Chen T., Fan C., Huang Y., Feng J., Zhang Y., Miao J. et al. Genomic sequencing as a first-tier screening test and outcomes of newborn screening. JAMA Netw. Open. 2023; 6(9): E2331162. https://dx.doi.org/10.1001/jamanetworkopen.2023.31162
42. Woerner A.C., Gallagher R.C., Vockley J., Adhikari A.N. The use of whole genome and exome sequencing for newborn screening: challenges and opportunities for population health. Front. Pediatr. 2021; 9: 663752. https://dx.doi.org/10.3389/fped.2021.663752
43. Шубина Е., Павлова Н.С., Донников А.Е., Померанцева Е.А., Трофимов Д.Ю. Использование экзомного секвенирования для проведения неонатального скрининга: возможности и ограничения. Неонатология: новости, мнения, обучение. 2022; 10(4): 40-6.
44. Adhikari A.N., Gallagher R.C., Wang Y., Currier R.J., Amatuni G., Bassaganyas L. et al. The role of exome sequencing in newborn screening for inborn errors of metabolism. Nat. Med. 2020; 26(9): 1392-7. https://doi.org/10.1038/s41591-020-0966-5
45. Ceyhan-Birsoy O., Murry J.B., Machini K., Lebo M.S., Yu T.W., Fayer S. et al. Interpretation of genomic sequencing results in healthy and ill newborns: results from the BabySeq project. Am. J. Hum. Genet. 2019; 104(1): 76-93. https://dx.doi.org/10.1016/j.ajhg.2018.11.016
46. Xiao Y., Zhou Y., Zhou K., Cai W. Targeted metabolomics reveals birth screening biomarkers for biliary atresia in dried blood spots. J. Proteome Res. 2022; 21(3): 721-6. https://dx.doi.org/10.1021/acs.jproteome.1c00775
47. Courraud J., Ernst M., Laursen S.S., Hougaard D.M., Cohen A.S. Studying autism using untargeted metabolomics in newborn screening samples. J. Mol. Neurosci. 2021; 71(7): 1378-93. https://dx.doi.org/10.1007/s12031-020-01787-2
48. Collins C.J., Chang I.J., Jung S., Dayuha R., Whiteaker J.R., Segundo G.R.S. et al. Rapid multiplexed proteomic screening for primary immunodeficiency disorders from dried blood spots. Front. Immunol. 2018; 9: 2756. https://dx.doi.org/10.3389/fimmu.2018.02756
49. Zaunseder E., Mütze U., Garbade S.F., Haupt S., Feyh P., Hoffmann G.F. et al. Machine learning methods improve specificity in newborn screening for isovaleric aciduria. Metabolites. 2023; 13(2): 304. https://dx.doi.org/10.3390/metabo13020304
50. Zhou M., Deng L., Huang Y., Xiao Y., Wen J., Liu N. et al. Application of the artificial intelligence algorithm model for screening of inborn errors of metabolism. Front. Pediatr. 2022; 10: 855943. https://dx.doi.org/10.3389/fped.2022.855943

Поступила 10.10.2025

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