Дефекты нервной трубки: современные представления об этиологии, дородовой профилактике и возможностях ранней диагностики

Чугунова Л.А., Пискулина А.А., Костюков К.В. Дефекты нервной трубки: современные представления об этиологии, дородовой профилактике и возможностях ранней диагностики. Consilium Medicum. 2023;25(8):491–496. DOI: 10.26442/20751753.2023.8.202350

© ООО «КОНСИЛИУМ МЕДИКУМ», 2023 г.

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Chugunova LA, Piskulina AA, Kostiukov KV. Neural tube defects: current view on etiology, prenatal prevention, and early diagnosis. A review. Consilium Medicum. 2023;25(8):491–496. DOI: 10.26442/20751753.2023.8.202350

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Аннотация

Представлен обзор литературных данных об этиологии, профилактике и возможностях ранней диагностики дефектов нервной трубки. Уделено внимание причинам и факторам риска развития данной патологии. Разбираются различные патогенетические механизмы формирования незаращения нервной трубки, в том числе роль фолиевой кислоты в профилактике его возникновения. Освещены основные этапы ультразвуковой оценки структур центральной нервной системы в I триместре беременности. Приведена методика получения основных ультразвуковых изображений, позволяющих идентифицировать открытый спинальный дизрафизм. Цель обзора – представление современных данных об этиологии, профилактике и возможностях ранней диагностики. По ключевым словам «дефект нервной трубки», «Spina bifida», «пренатальная диагностика», «фолиевая кислота», «менингомиелоцеле», «миелошизис» проведен анализ отечественных и зарубежных литературных баз данных: elibrary, Medline/PubMed, Embase, Crossref, РИНЦ. В соответствии с поставленной целью отобрано для анализа 25 источников литературы. Осведомленность практикующих специалистов о методах дородовой профилактики и возможностях ранней перинатальной ультразвуковой диагностики дефектов нервной трубки позволит снизить частоту данной патологии, уменьшить показатели детской заболеваемости и повысить эффективность оказания медицинской помощи.

Ключевые слова: дефект нервной трубки, spina bifida, пренатальная диагностика, фолиевая кислота, менингомиелоцеле, миелошизис

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A literature review on the etiology, prevention, and early diagnosis of neural tube defects is presented, focusing on the causes and risk factors for these disorders. Various pathogenetic mechanisms for neural tube defects and the role of folic acid in their prevention are described. The main stages of ultrasound evaluation of the central nervous system structures in the first trimester of pregnancy are addressed. A basic ultrasound imaging technique that allows to identify spina bifida is provided. This review aims to present current data on the etiology, prevention, and early diagnosis of neural tube defects. A search was conducted in domestic and foreign literature databases (eLIBRARY, Medline/PubMed, Embase, Crossref, RSCI) using the keywords "neural tube defect," "spina bifida," "prenatal diagnosis," "folic acid," "meningomyelocele," "myeloschisis." Twenty-five papers met the selection criteria and were included in the review. Healthcare providers' awareness of the methods of prenatal prophylaxis and the possibilities of early perinatal ultrasound diagnosis of neural tube defects will reduce their incidence and infant morbidity rates and increase the effectiveness of medical care.

Keywords: neural tube defect, spina bifida, prenatal diagnosis, folic acid, meningomyelocele, myeloschisis

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Список литературы

1. Демикова Н.С., Подольная М.А., Лапина А.С. Частота и временные тренды дефектов нервной трубки в регионах Российской Федерации. Российский вестник перинатологии и педиатрии. 2019;64(6):30-8 [Demikova NS, Podol'naia MA, Lapina AS. Chastota i vremennye trendy defektov nervnoi trubki v regionakh Rossiiskoi Federatsii. Rossiiskii vestnik perinatologii i pediatrii. 2019;64(6):30-8 (in Russian)].
2. Демикова Н.С., Лапина А.С., Подольная М.А., Кобринский Б.А. Динамика частоты врожденных пороков развития в РФ (по данным федеральной базы мониторинга ВПР за 2006–2012 гг.). Российский вестник перинатологии и педиатрии. 2015;60(2):72-7 [Demikova NS, Lapina AS, Podol'naia MA, Kobrinskii BA. Dinamika chastoty vrozhdennykh porokov razvitiia v RF (po dannym federal'noi bazy monitoringa VPR za 2006–2012 gg.). Rossiiskii vestnik perinatologii i pediatrii. 2015;60(2):72-7 (in Russian)].
3. MRC Vitamin Study Research Group. Prevention of neural tube defects: Results of the Medical Research CounISSUEcil Vitamin Study. Lancet. 1991;338(8760):131-7.
4. Chen CP. Chromosomal abnormalities associated with neural tube defects (I): full aneuploidy. Taiwan J Obstet Gynecol. 2007;46:325-35.
5. Detrait ER, George TM, Etchevers HC, et al. Human neural tube defects: developmental biology, epidemiology, and genetics. Neurotoxicol Teratol. 2005;27:515-24.
6. Harris MJ, Juriloff DM. Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects. Birth Defects Res A Clin Mol Teratol.
2007;79:187-210.
7. Gabriel L, Maniou E, Edwards TJ, et al. Cell non-autonomy amplifies disruption of neurulation by mosaic Vangl2 deletion in mice. Nat Commun. 2021;12(1):1159.
DOI:10.1038/s41467-021-21372-4
8. Robinson A, Escuin S, Doudney K, et al. Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum Mutat. 2012;33(2)440-7. DOI:10.1002/humu.21662
9. Wilson A, Platt R, Wu Q, et al. A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida. Mol Genet Metab. 1999;67:317-23.
10. Toepoel M, Steegers-Theunissen RP, Ouborg NJ, et al. Interaction of PDGFRA promoter haplotypes and maternal environmental exposures in the risk of spina bifida. Birth Defects Res A Clin Mol Teratol. 2009;85(7):629-36. DOI:10.1002/bdra.20574
11. Egorova O, Myte R, Schneede J, et al. Maternal blood folate status during early pregnancy and occurrence of autism spectrum disorder in offspring: a study of 62 serum biomarkers. Mol Autism. 2020;11(71):7. DOI:10.1186/s13229-020-0315-z
12. Paladini D, Malinger G, Birnbaum R, et al. ISUOG Practice Guidelines (updated): sonographic examination of the fetal central nervous system. Part 2: performance of targeted neurosonography. Ultrasound Obstet Gynecol. 2021;57(4):661-71. DOI:10.1002/uog.23616
13. Volpe N, Dall'Asta A, Di Pasquo E, et al. First-trimester fetal neurosonography: technique and diagnostic potential. Ultrasound Obstet Gynecol. 2021;57(2):204-14.
14. Kozlowski P, Burkhardt T, Gembruch U, et al. DEGUM, ÖGUM, SGUM and FMF Germany Recommendations for the Implementation of First-Trimester Screening, Detailed Ultrasound, Cell-Free DNA Screening and Diagnostic Procedures. Ultraschall Med. 2019;40(2):176-93.
15. Tulipan N, Wellons JC 3rd, Thom EA; MOMS Investigators. Prenatal surgery for myelomeningocele and the need for cerebrospinal fluid shunt placement. J Neurosurg Pediatr. 2015;16(6):613-20.
16. Houtrow AJ, Burrows PK, Thom EA. Comparing neurodevelopmental outcomes at 30 months by presence of hydrocephalus and shunt status among children enrolled in the MOMS trial. J Pediatr Rehabil Med. 2018;11(4):227-35.
17. Greene ND, Copp AJ. Models of neural tube defects: investigating preventive mechanisms. Am J Med Genet C Semin Med Genet. 2005;135C(1):31-41. DOI:10.1002/ajmg.c.30051
18. Galea GL, Maniou E, Edwards TJ, et al. Cell non-autonomy amplifies disruption of neurulation by mosaic Vangl2 deletion in mice. Nat Commun. 2021;12(1):1159. DOI:10.1038/s41467-021-21372-4
19. Callen AL, Filly RA. Supratentorial abnormalities in the Chiari II malformation, I: the ventricular "point". J Ultrasound Med. 2008;27(1):33-8.
20. Callen AL, Stengel JW, Filly RA. Supratentorial abnormalities in the Chiari II malformation, II: tectal morphologic changes. J Ultrasound Med. 2009;28(1):29-35.
21. Wong SK, Barkovich JА, Сallen AL, Filly RA. Supratentorial Abnormalities in the Chiari II Malformation, III: The Interhemispheric Cyst. J Ultrasound Med. 2009;28(8):999-1006. DOI:10.7863/jum.2009.28.8.999
22. Filly MR, Filly RA, Barkovich AJ, Goldstein RB. Supratentorial Abnormalities in the Chiari II Malformation, IV: The Too-Far-Back Ventricle. J Ultrasound Med. 2010;29(2):243-48. DOI:10.7863/jum.2010.29.2.243
23. Finn M, Sutton D, Atkinson S, et al. The aqueduct of Sylvius: a sonographic landmark for neural tube defects in the first trimester. Ultrasound Obstet Gynecol. 2011;38(6):640-5. DOI:10.1002/uog.10088
24. Leibovitz Z, Shkolnik C, Krajden Haratz K, et al. Assessment of fetal midbrain and hindbrain in mid-sagittal cranial plane by three-dimensional multiplanar sonography. Part 1: comparison of new and established nomograms. Ultrasound Obstet Gynecol. 2014;44(5):575-80. DOI:10.1002/uog.13308.
25. Volcik KA, Shaw GM, Lammer EJ, et al. Evaluation of infant methylenetetrahydrofolate reductase genotype, maternal vitamin use, and risk of high versus low level spina bifida defects. Birth Defects Res A Clin Mol Teratol. 2003;67(3):154-7. DOI:10.1002/bdra.10008

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1. Demikova NS, Podol'naia MA, Lapina AS. Chastota i vremennye trendy defektov nervnoi trubki v regionakh Rossiiskoi Federatsii. Rossiiskii vestnik perinatologii i pediatrii. 2019;64(6):30-8 (in Russian).
2. Demikova NS, Lapina AS, Podol'naia MA, Kobrinskii BA. Dinamika chastoty vrozhdennykh porokov razvitiia v RF (po dannym federal'noi bazy monitoringa VPR za 2006–2012 gg.). Rossiiskii vestnik perinatologii i pediatrii. 2015;60(2):72-7 (in Russian).
3. MRC Vitamin Study Research Group. Prevention of neural tube defects: Results of the Medical Research CounISSUEcil Vitamin Study. Lancet. 1991;338(8760):131-7.
4. Chen CP. Chromosomal abnormalities associated with neural tube defects (I): full aneuploidy. Taiwan J Obstet Gynecol. 2007;46:325-35.
5. Detrait ER, George TM, Etchevers HC, et al. Human neural tube defects: developmental biology, epidemiology, and genetics. Neurotoxicol Teratol. 2005;27:515-24.
6. Harris MJ, Juriloff DM. Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects. Birth Defects Res A Clin Mol Teratol.
2007;79:187-210.
7. Gabriel L, Maniou E, Edwards TJ, et al. Cell non-autonomy amplifies disruption of neurulation by mosaic Vangl2 deletion in mice. Nat Commun. 2021;12(1):1159.
DOI:10.1038/s41467-021-21372-4
8. Robinson A, Escuin S, Doudney K, et al. Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum Mutat. 2012;33(2)440-7. DOI:10.1002/humu.21662
9. Wilson A, Platt R, Wu Q, et al. A common variant in methionine synthase reductase combined with low cobalamin (vitamin B12) increases risk for spina bifida. Mol Genet Metab. 1999;67:317-23.
10. Toepoel M, Steegers-Theunissen RP, Ouborg NJ, et al. Interaction of PDGFRA promoter haplotypes and maternal environmental exposures in the risk of spina bifida. Birth Defects Res A Clin Mol Teratol. 2009;85(7):629-36. DOI:10.1002/bdra.20574
11. Egorova O, Myte R, Schneede J, et al. Maternal blood folate status during early pregnancy and occurrence of autism spectrum disorder in offspring: a study of 62 serum biomarkers. Mol Autism. 2020;11(71):7. DOI:10.1186/s13229-020-0315-z
12. Paladini D, Malinger G, Birnbaum R, et al. ISUOG Practice Guidelines (updated): sonographic examination of the fetal central nervous system. Part 2: performance of targeted neurosonography. Ultrasound Obstet Gynecol. 2021;57(4):661-71. DOI:10.1002/uog.23616
13. Volpe N, Dall'Asta A, Di Pasquo E, et al. First-trimester fetal neurosonography: technique and diagnostic potential. Ultrasound Obstet Gynecol. 2021;57(2):204-14.
14. Kozlowski P, Burkhardt T, Gembruch U, et al. DEGUM, ÖGUM, SGUM and FMF Germany Recommendations for the Implementation of First-Trimester Screening, Detailed Ultrasound, Cell-Free DNA Screening and Diagnostic Procedures. Ultraschall Med. 2019;40(2):176-93.
15. Tulipan N, Wellons JC 3rd, Thom EA; MOMS Investigators. Prenatal surgery for myelomeningocele and the need for cerebrospinal fluid shunt placement. J Neurosurg Pediatr. 2015;16(6):613-20.
16. Houtrow AJ, Burrows PK, Thom EA. Comparing neurodevelopmental outcomes at 30 months by presence of hydrocephalus and shunt status among children enrolled in the MOMS trial. J Pediatr Rehabil Med. 2018;11(4):227-35.
17. Greene ND, Copp AJ. Models of neural tube defects: investigating preventive mechanisms. Am J Med Genet C Semin Med Genet. 2005;135C(1):31-41. DOI:10.1002/ajmg.c.30051
18. Galea GL, Maniou E, Edwards TJ, et al. Cell non-autonomy amplifies disruption of neurulation by mosaic Vangl2 deletion in mice. Nat Commun. 2021;12(1):1159. DOI:10.1038/s41467-021-21372-4
19. Callen AL, Filly RA. Supratentorial abnormalities in the Chiari II malformation, I: the ventricular "point". J Ultrasound Med. 2008;27(1):33-8.
20. Callen AL, Stengel JW, Filly RA. Supratentorial abnormalities in the Chiari II malformation, II: tectal morphologic changes. J Ultrasound Med. 2009;28(1):29-35.
21. Wong SK, Barkovich JА, Сallen AL, Filly RA. Supratentorial Abnormalities in the Chiari II Malformation, III: The Interhemispheric Cyst. J Ultrasound Med. 2009;28(8):999-1006. DOI:10.7863/jum.2009.28.8.999
22. Filly MR, Filly RA, Barkovich AJ, Goldstein RB. Supratentorial Abnormalities in the Chiari II Malformation, IV: The Too-Far-Back Ventricle. J Ultrasound Med. 2010;29(2):243-48. DOI:10.7863/jum.2010.29.2.243
23. Finn M, Sutton D, Atkinson S, et al. The aqueduct of Sylvius: a sonographic landmark for neural tube defects in the first trimester. Ultrasound Obstet Gynecol. 2011;38(6):640-5. DOI:10.1002/uog.10088
24. Leibovitz Z, Shkolnik C, Krajden Haratz K, et al. Assessment of fetal midbrain and hindbrain in mid-sagittal cranial plane by three-dimensional multiplanar sonography. Part 1: comparison of new and established nomograms. Ultrasound Obstet Gynecol. 2014;44(5):575-80. DOI:10.1002/uog.13308.
25. Volcik KA, Shaw GM, Lammer EJ, et al. Evaluation of infant methylenetetrahydrofolate reductase genotype, maternal vitamin use, and risk of high versus low level spina bifida defects. Birth Defects Res A Clin Mol Teratol. 2003;67(3):154-7. DOI:10.1002/bdra.10008

Авторы

Л.А. Чугунова*, А.А. Пискулина, К.В. Костюков

ФГБУ «Национальный медицинский исследовательский центр акушерства, гинекологии и перинатологии им. акад. В.И. Кулакова» Минздрава России, Москва, Россия
*l_chugunova@oparina4.ru

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Liliyana A. Chugunova*, Alexandra A. Piskulina, Kirill V. Kostiukov

Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Moscow, Russia
*l_chugunova@oparina4.ru

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