小结
定义
病史和体格检查
关键诊断因素
- 存在的危险因素
- 孕周<37周
- 身长短、体重低、头围小
- 面部畸形特征
- 存在出生缺陷
- 发育迟缓或行为问题
- 心理健康问题
- 有相似症状的兄弟姐妹
其他诊断因素
- 听力或视力障碍
- 饮食不佳
- 易怒
危险因素
- 孕期母体摄入酒精
- 现在母体摄入酒精
- 高胎次妊娠
- 高胎次
- 母亲的乙醇脱氢酶1B*1/乙醇脱氢酶1B*3或 乙醇脱氢酶1B*1/乙醇脱氢酶1B*1基因型
- 母亲饮酒的历史较长
- 母亲年龄增加
- 母亲体重、身高以及头围低母亲在孕期使用烟草
- 母亲在孕期使用烟草
- 母亲的社会经济地位低
- 孕妇饮酒家族史
- 母亲的种族
诊断性检查
首要检查
- 面部摄影评估
需考虑的检查
- 产前胎儿超声检查
- 心电图 (ECG)
- 超声心动图
- 脑电图 (EEG)
- 头部MRI/CT
- 肾脏超声检查
- 骨骼 X 线
- 筛查验血
- 染色体微阵列
新兴检查
- 功能性MRI：
- 磁共振波谱
- 3 维面部影像学
治疗流程
所有患者
撰稿人
作者
Elizabeth Elliott, MD, MPhil, MBBS, FRACP, FRCPCH, FRCP
Professor of Paediatrics and Child Health
Faculty of Medicine and Health
University of Sydney
Consultant Paediatrician
The Children's Hospital at Westmead
Sydney
Director
Australian Paediatric Surveillance Unit
Westmead
Australia
利益声明
EE is an author of a number of references cited in this monograph.
鸣谢
Dr Elizabeth Elliott would like to gratefully acknowledge Dr Elizabeth Peadon, a previous contributor to this monograph. EP is an author of a number of references cited in this monograph.
同行评议者
Albert E. Chudley, MD, FRCPC, FCCMG
Medical Director
Program in Genetics and Metabolism
Professor
Department of Pediatrics and Child Health
University of Manitoba
Winnipeg
Canada
利益声明
AEC has been paid an honorarium and consulting fees for the development of screening tools for identifying individuals at risk for FASD in Canada. AEC is an author of a number of references cited in this monograph.
Carol Bower, MD
Clinical Professor
Senior Principal Research Fellow
Telethon Institute for Child Health Research
Centre for Child Health Research
The University of Western Australia
Perth
Australia
利益声明
CB is an author of a number of references cited in this monograph, and sometimes collaborates with the authors.
Philip A. May, MD, PhD
Professor of Sociology
Professor of Family and Community Medicine
The University of New Mexico
Albuquerque
NM
利益声明
PAM is an author of a number of references cited in this monograph.
鉴别诊断
- 胎儿乙内酰脲综合征
- 胎儿丙戊酸钠综合征
- 胎儿甲苯综合征
更多 鉴别诊断指南
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