发育医学电子杂志 2021, Vol. 9 Issue (6): 475-480 DOI: 10.3969/j.issn.2095-5340.2021.06.015 |
临床遗传
综述
|
|
|
|
|
|
生物标志物在神经管畸形产前诊断方面的进展及应用 |
刘晴 袁正伟 |
中国医科大学附属盛京医院 卫生部小儿先天畸形重点实验室,辽宁 沈阳 110004
|
|
Progress and application of biomarkers in prenatal diagnosis of neural tube defects |
Liu Qing, Yuan Zhengwei |
|
摘要 神经管畸形(neural tube defects,NTDs)是一种严重的小儿神经系统先天畸形,据报道2015年全
球NTDs患病率为1.86‰,世界不同地区的NTDs患病率为0.75‰~3.12‰[1]。该病于妊娠早期
21~28 d发生,因神经皱襞在中线融合失败,神经管未闭合所致,是最常见和致残率最高的出生
缺陷之一[2]。根据中枢神经组织是否暴露于外部环境,可将神经管缺陷划分为两种类型,即开放
性和闭合性缺陷;根据神经管闭合失败的解剖部位,开放性缺陷又可分为颅轴裂、前脑无脑和脊
髓脊膜膨出,闭合性缺陷又可分为脑膨出、脊膜膨出和隐性脊柱裂[3]。
|
|
关键词:
神经管畸形')" href="#">神经管畸形
甲胎蛋白')" href="#">甲胎蛋白
基因')" href="#">基因
|
收稿日期: 2020-07-13
发布日期: 2021-11-30
|
基金资助: 国家自然科学基金(81671469) |
通讯作者:
袁正伟
E-mail: yuanzw@hotmail.com
|
[1] |
Society of Neonatologist, Chinese Medical Doctor Association. Consensus recommendations on the prevention and early management of respiratory distress syndrome in preterm infants[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 129
-131
. |
[2] |
Professional Committee of Respiratory, Society of Neonatologist, Chinese Medical Doctor Association. Clinical application recommendations for heated humidified high flow nasal cannula[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 132
-135
. |
[3] |
YAN Jun, ZHU Xing-wang, SHI Yuan. Application progress of noninvasive ventilate technique for premature infants[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 136
-140
. |
[4] |
GU Min-fang, YANG Chuan-zhong. Progress of intrapartum resuscitation for premature infants[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 141
-145
. |
[5] |
LIU Shu-hua, SHEN Yue-bo, LIU Cui-qing, MA Li. The efficacy of pulmonary surfactant for pulmonary function in premature tension pneumothorax[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 146
-151
. |
[6] |
GAO Xiao-hui, MAO Jian. Clinical features of non-oliguric hyperkalemia in extremely low birth weight infants[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 152
-158
. |
[7] |
XIA Yao-fang, YANG Juan , TIAN Bao-li, et al. Value of amplitude-integrated electroencephalography in monitoring acute period of neonatal bilirubin encephalopathy and prognostic assessment[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 159
-163
. |
[8] |
WANG Li-rong, SUN Xiao-yan, ZHU Ruo-xin, et al. Epidemiological investigation and analysis of women aged 40-55 years old with osteoporosis in Gansu province[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 164
-167
. |
[9] |
CHEN Ru-yue, SHEN Yun-yan, CHEN Qing , et al. Five cases about Henoch-Schönlein purpura complicated with central nervous system injury in children and literatures review[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 168
-171
. |
[10] |
ZHANG Ai-run, FANG Xiao-yi. Lung function testing of bronchopulmonary dysplasia for infants and children[J]. Journal of Developmental Medicine(Electronic Version), 2017, 5(3): 172
-176
. |
|
|
Viewed |
|
|
|
Full text
|
|
|
|
|
Abstract
|
|
|
|
|
Cited |
|
|
|
|
|
Shared |
|
|
|
|
|
Discussed |
|
|
|
|