神经管缺陷预防、筛查、诊断、咨询及干预多学科专家共识
收稿日期: 2024-07-02
录用日期: 2024-12-16
网络出版日期: 2025-02-12
基金资助
科技部重点研发计划项目(2022YFC2705205);科技部重点研发计划项目(2021YFC2701101);科技部重点研发计划项目(2022YFC2703400);国家自然科学基金项目(82473639)
Multidisciplinary expert consensus on the prevention, screening, diagnosis, counseling and intervention of neural tube defects
中国妇幼保健协会出生缺陷防治与分子遗传分会 , 中国医师协会医学遗传医师分会儿童遗传病学组 , 国际神经修复学会中国委员会神经遗传发育疾病分会 . 神经管缺陷预防、筛查、诊断、咨询及干预多学科专家共识[J]. 临床儿科杂志, 2025 , 43(2) : 81 -92 . DOI: 10.12372/jcp.2025.24e0672
Neural tube defects (NTDs) are a class of birth defects that can lead to death or disability. To further guide the prevention, screening, diagnosis, and management of NTDs, the Birth Defects Prevention and Molecular Genetics Branch of the China Maternal and Child Health Association and other organizations convened a panel of multidisciplinary experts for discussion. This panel referenced the latest domestic and international research progress and consensus guidelines, formulating the following expert consensus.
| [1] | Neural tube defects. Practice Bulletin No. 187. American College of Obstetricians and Gynecologists[J]. Obstet Gynecol, 2017, 130 (6): e279-e290. |
| [2] | Wallingford JB, Niswander LA, Shaw GM, et al. The continuing challenge of understanding, preventing, and treating neural tube defects[J]. Science, 2013, 339(6123): 1222002. |
| [3] | Ghi T, Pilu G, Falco P, et al. Prenatal diagnosis of open and closed spina bifida[J]. Ultrasound Obstet Gynecol, 2006, 28(7):899-903. |
| [4] | 国家卫生计生委妇幼健康服务司. 全国妇幼卫生信息分析报告[R]. In: 2023: 91. |
| Department of Maternal and Child Health Services, National Health Commission. National Maternal and Child Health Information Analysis Report[R]. In: 2023: 91. | |
| [5] | Liu J, Zhang L, Li Z, et al. Prevalence and trend of neural tube defects in five counties in Shanxi province of Northern China, 2000 to 2014[J]. Birth Defects Res A Clin Mol Teratol, 2016, 106(4):267-274. |
| [6] | Blencowe H, Kancherla V, Moorthie S, et al. Estimates of global and regional prevalence of neural tube defects for 2015: a systematic analysis[J]. Ann N Y Acad Sci, 2018, 1414(1): 31-46. |
| [7] | Greene NDE, Copp AJ. Neural tube defects[J]. Annu Rev Neurosci, 2014, 37: 221-242. |
| [8] | Copp AJ, Stanier P, Greene NDE. Genetic Basis of Neural Tube Defects[M]// Di Rocco C, Pang D, Rutka JT, eds. Textbook of Pediatric Neurosurgery. Springer International Publishing; 2020: 2275-2294. |
| [9] | Wolujewicz P, Ross ME. The search for genetic determinants of human neural tube defects[J]. Curr Opin Pediatr, 2019, 31(6): 739-746. |
| [10] | Shaw GM, Velie EM, Schaffer D. Risk of neural tube defect-affected pregnancies among obese women[J]. JAMA, 1996, 275(14): 1093-1096. |
| [11] | Sheffield JS, Butler-Koster EL, Casey BM, et al. Maternal diabetes mellitus and infant malformations[J]. Obstet Gynecol, 2002, 100(5Pt 1): 925-930. |
| [12] | Lammer EJ, Sever LE, Oakley GP, Jr. Teratogen update: valproic acid[J]. Teratology, 1987, 35(3): 465-473. |
| [13] | Wang C, Pi X, Chen Y, et al. Prenatal exposure to barium and the occurrence of neural tube defects in offspring[J]. Sci Total Environ, 2021, 764: 144245. |
| [14] | Ren A, Qiu X, Jin L, et al. Association of selected persistent organic pollutants in the placenta with the risk of neural tube defects[J]. Proc Natl Acad Sci USA, 2011, 108(31): 12770-12775. |
| [15] | Berry RJ, Li Z, Erickson JD, et al. Prevention of neural-tube defects with folic acid in China. China-U.S.Collaborative Project for Neural Tube Defect Prevention[J]. N Engl J Med, 1999, 341(20): 1485-1490. |
| [16] | 中国疾病预防控制中心营养与健康所, 杨月欣. 中国食物成分表标准版[J]. 6版/第二册. 北京大学医学出版社; 2019. |
| National Institute for Nutrition and Health Yang YX, et al. Chinese Center for Disease Control and Prevention[J]. China Food Composition (Standard Edition). 6th ed., Vol. 2. Peking University Medical Press; 2019. | |
| [17] | Czeizel AE, Dudás I. Prevention of the first occurrence of neural-tube defects by periconceptional vitamin supplementation[J]. N Engl J Med, 1992, 327(26): 1832-1835. |
| [18] | Gucciardi E, Pietrusiak MA, Reynolds DL, et al. Incidence of neural tube defects in Ontario, 1986-1999[J]. CMAJ, 2002, 167(3): 237-240. |
| [19] | Blom HJ, Shaw GM, den Heijer M, et al. Neural tube defects and folate: case far from closed[J]. Nat Rev Neurosci, 2006, 7(9): 724-731. |
| [20] | 围受孕期增补叶酸预防神经管缺陷指南工作组, 任爱国, 张雪娟. 围受孕期增补叶酸预防神经管缺陷指南(2017)[J]. 中国生育健康杂志, 2017, 28(5): 401-410. |
| Working Group on Guidelines for Periconceptional Folic Acid Supplementation for the Prevention of Neural Tube Defects, Ren AG, Zhang XJ, et al. Guidelines for Periconceptional Folic Acid Supplementation for the Prevention of Neural Tube Defects (2017)[J]. Zhongguo Shengyu Jiankang Zazhi, 2017, 28(5): 401-410. | |
| [21] | Douglas Wilson R, Van Mieghem T, Langlois S, et al. Guideline No. 410: Prevention, Screening, Diagnosis, and Pregnancy Management for Fetal Neural Tube Defects[J]. J Obstet Gynaecol Can, 2021, 43(1):124-139. |
| [22] | 刘西瑶, 侯艳梅, 安美静, 等. 孕期叶酸和维生素B12与妊娠期糖尿病的关系研究进展[J]. 中国生育健康杂志, 2023, 34(5): 488-491. |
| Liu XY, Hou YM, An MJ, et al. Advances in the study of the relationship between folic acid and vitamin B12during pregnancy and gestational diabetes mellitus[J]. Zhongguo Shengyu Jiankang Zazhi, 2023, 34(5): 488-491. | |
| [23] | Li Q, Zhang Y, Huang L, et al. High-dose folic acid supplement use from prepregnancy through midpregnancy is associated with increased risk of gestational diabetes mellitus: a prospective cohort study[J]. Diabetes Care, 2019, 42(7): e113-e115. |
| [24] | Yang L, Jiang L, Bi M, et al. High dose of maternal folic acid supplementation is associated to infant asthma[J]. Food Chem Toxicol, 2015, 75: 88-93. |
| [25] | Chen P, Li C, Li X, et al. Higher dietary folate intake reduces the breast cancer risk: a systematic review and meta-analysis[J]. Br J Cancer, 2014, 110(9): 2327-2338. |
| [26] | Bekkers MB, Elstgeest LE, Scholtens S, et al. Maternal use of folic acid supplements during pregnancy, and childhood respiratory health and atopy[J]. Eur Respir J, 2012, 39(6): 1468-1474. |
| [27] | Martinussen MP, Risnes KR, Jacobsen GW, et al. Folic acid supplementation in early pregnancy and asthma in children aged 6 years[J]. Am J Obstet Gynecol, 2012, 206(1): 72. |
| [28] | Reynolds E. Vitamin B12, folic acid, and the nervous system[J]. Lancet Neurol, 2006, 5(11): 949-960. |
| [29] | Liao Y, Wen H, Ouyang S, et al. Routine first-trimester ultrasound screening using a standardized anatomical protocol[J]. Am J Obstet Gynecol, 2021, 224(4): 396. |
| [30] | Norem CT, Schoen EJ, Walton DL, et al. Routine ultrasonography compared with maternal serum alpha-fetoprotein for neural tube defect screening[J]. Obstet Gynecol, 2005, 106(4): 747-752. |
| [31] | 杨帆, 李胜利, 罗红, 等. 胎儿中枢神经系统产前超声检查专家共识(2020)[J]. 中华医学超声杂志, 2021, 18(5): 433-443. |
| Yang F, Li SL, Luo H, et al. Expert consensus on prenatal ultrasound examination of the fetal central nervous system (2020)[J]. Zhonghua Yixue Chaosheng Zazhi, 2021, 18(5): 433-443. | |
| [32] | Palomaki GE, Bupp C, Gregg AR, et al. Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)[J]. Genet Med Mar, 2020, 22(3): 462-474. |
| [33] | 修波. 脊柱裂诊治专家共识[J]. 中国修复重建外科杂志, 2021, 35(11): 1361-1367. |
| Xiu B. Expert consensus on the diagnosis and treatment of spina bifida[J]. Zhongguo Xiufu Chongjian Waike Zazhi, 2021, 35(11): 1361-1367. | |
| [34] | Lord J, McMullan DJ, Eberhardt RY, et al. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study[J]. Lancet, 2019, 393(10173): 747-757. |
| [35] | Committee on Obstetric Practice Society for Maternal-Fetal Medicine, Russell SM, Jeffrey AK, et al. Committee Opinion No. 720: Maternal-Fetal Surgery for Myelomeningocele[J]. Obstet Gynecol, 2017, 130(3): e164-e167. |
| [36] | 李胜利, 罗主. 胎儿畸形产前超声诊断学[M]. 2版. 北京: 科学出版社, 2017. |
| Li SL, Luo Z. Prenatal ultrasound diagnosis of fetal malformations (2nd ed.)[J]. Beijing: Science Press, 2017. | |
| [37] | Cochrane D, Aronyk K, Sawatzky B, et al. The effects of labor and delivery on spinal cord function and ambulation in patients with meningomyelocele[J]. Childs Nerv Syst, 1991, 7(6): 312-315. |
| [38] | Luthy DA, Wardinsky T, Shurtleff DB, et al. Cesarean section before the onset of labor and subsequent motor function in infants with meningomyelocele diagnosed antenatally[J]. N Engl J Med, 1991, 324(10): 662-666. |
| [39] | Firth HV, Hurst J. Oxford desk reference: clinical genetics and genomics[J]. London: OUP Oxford: 2017. |
| [40] | Papp C, Adám Z, Tóth-Pál E, et al. Risk of recurrence of craniospinal anomalies[J]. J Matern Fetal Med, 1997, 6(1): 53-57. |
| [41] | Padmanabhan R. Etiology, pathogenesis and prevention of neural tube defects[J]. Congenit Anom (Kyoto), 2006, 46(2): 55-67. |
| [42] | Liu J, Li Z, Greene NDE, et al. The recurrence risk of neural tube defects (NTDs) in a population with high prevalence of NTDs in northern China[J]. Oncotarget, 2017, 8(42): 72577-72583. |
| [43] | Arifin M, Suryaningtyas W, Bajamal AH. Frontoethmoidal encephalocele: clinical presentation, diagnosis, treatment, and complications in 400 cases[J]. Childs Nerv Syst, 2018, 34(6): 1161-1168. |
| [44] | Tirumandas M, Sharma A, Gbenimacho I, et al. Nasal encephaloceles: a review of etiology, pathophysiology, clinical presentations, diagnosis, treatment, and com-plications[J]. Childs Nerv Syst, 2013, 29(5): 739-744. |
| [45] | Suryaningtyas W, Sabudi I, Parenrengi MA. The extracranial versus intracranial approach in frontoethmoidal encephalocele corrective surgery: a meta-analysis[J]. Neurosurg Rev, 2022, 45(1): 125-137. |
| [46] | Markovic I, Bosnjakovic P, Milenkovic Z. Occipital encephalocele: cause, incidence, neuroimaging and surgical management[J]. Curr Pediatr Rev, 2020, 16(3): 200-205. |
| [47] | Spoor JKH, Gadjradj PS, Eggink AJ, et al. Contemporary management and outcome of myelomeningocele: the Rotterdam experience[J]. Neurosurg Focus, 2019, 47(4): E3. |
| [48] | Benjamin RH, Lopez A, Mitchell LE, et al. Mortality by mode of delivery among infants with spina bifida in Texas[J]. Birth Defects Res, 2019, 111(19): 1543-1550. |
| [49] | Anegbe AO, Shokunbi MT, Oyemolade TA, et al. Intracranial infection in patients with myelomeningocele: profile and risk factors[J]. Childs Nerv Syst, 2019, 35(11): 2205-2210. |
| [50] | Kellogg R, Lee P, Deibert CP, et al. Twenty years' experience with myelomeningocele management at a single institution: lessons learned[J]. J Neurosurg Pediatr, 2018, 22(4): 439-443. |
| [51] | Smith K, Neville-Jan A, Freeman KA, et al. The effectiveness of bowel and bladder interventions in children with spina bifida[J]. Dev Med Child Neurol, 2016, 58(9): 979-988. |
| [52] | Sacco A, Van der Veeken L, Bagshaw E, et al. Maternal complications following open and fetoscopic fetal surgery: A systematic review and meta-analysis[J]. Prenat Diagn, 2019, 39(4): 251-268. |
| [53] | Kulkarni AV, Riva-Cambrin J, Rozzelle CJ, et al. Endoscopic third ventriculostomy and choroid plexus cauterization in infant hydrocephalus: a prospective study by the Hydrocephalus Clinical Research Network[J]. J Neurosurg Pediatr, 2018, 21(3): 214-223. |
| [54] | Kulkarni AV, Schiff SJ, Mbabazi-Kabachelor E, et al. Endoscopic treatment versus shunting for infant hydrocephalus in Uganda[J]. N Engl J Med, 2017, 377(25): 2456-2464. |
| [55] | Tamburrini G, Frassanito P, Iakovaki K, et al. Myelo-meningocele: the management of the associated hydrocephalus[J]. Childs Nerv Syst, 2013, 29(9): 1569-1579. |
| [56] | Messing-Jünger M, R?hrig A. Primary and secondary management of the Chiari II malformation in children with myelomeningocele[J]. Childs Nerv Syst, 2013, 29(9): 1553-1562. |
| [57] | Alnefaie N, Alharbi A, Alamer OB, et al. Split cord malformation: presentation, management, and surgical outcome[J]. World Neurosurg, 2020, 136: e601-e607. |
| [58] | Ackerman LL, Menezes AH. Spinal congenital dermal sinuses: a 30-year experience[J]. Pediatrics, 2003, 112(3 Pt 1): 641-647. |
| [59] | Wilson PE, Mukherjee S. Mobility guidelines for the care of people with spina bifida[J]. J Pediatr Rehabil Med, 2020, 13(4): 621-627. |
| [60] | Oliveira A, Jacome C, Marques A. Physical fitness and exercise training on individuals with spina bifida: a systematic review[J]. Res Dev Disabil, 2014, 35(5): 1119-1136. |
/
| 〈 |
|
〉 |
沪公网安备 31011002000392号
