胎儿结构异常的产前诊断和随访[1]

Results:1.Congenital heart diseases, urogenital system malformations, facial surface malformations, alimentary system malformations ,skeleton and limbs malformations are the main malformations in nearly 10 years.2. The outcome of fetal single encephalic accumulated fluid less than 15mm is good,but we should make sure that there is no chromosome abnormalities and other malformations , ultrasonography follow-up should be applied.3. The number of fetal hydronephrosis is the most in urogenital system malformations. 53.33% of Grignon I and 20% of Grignon II can disappear during the duration of pregnancy.20% of Grignon II can reduce to Grignon I during the duration of pregnancy,and most of them can disappear after birth without operations. Grignon III and IV hydronephrosis can not disappear,and most of them need operations.The outcome of Grignon V is not well.4. The operation survival rate of fetal alimentary system malformations is 92.11% and the operation survival rate of fetal abdominal wall defect is 83.33%.5.The outcome of congenital diaphragmatic hernia is not well if it is diagnosed at an early gestational week and with liver up into the thoracic cavity which may suggest a big defect of diaphragma.6. The imageology appearance of fetal pleural effusion and hydramnios can be the evidence of prenatal diagnosis of congenital chylothorax.7. The use of MR imaging can be helpful with the prenatal diagnosis of fetal structural abnormalities,such as
Methods: 411cases are collected from July 1st 1998 to June 30th 2008 in our obstetrics department,which were prenatal diagnosed by ultrasonography or MRI, or diagnosed by clinical examination, imageology, operation and autopsy after born in 7 days. Fetal structural abnormalities are classified according to the different organs and systems.We calculate the incidence of each kind of fetal structural malformations,mean birth gestational weeks, mean birth weight and so on. Discuss the relationship among the time of prenatal diagnosis, the appearance of imageology and the outcome of neonatus.If the neonatus were treated,we follow up them by telephone and case historys inquiring..
结果：1．近 10 年胎儿先天畸形占前五位的分别是心血管畸形、泌 尿生殖系统畸形、颜面部畸形、消化道畸形和骨骼肢体畸形。2．孕期发 现胎儿单一部位颅脑积液小于 15mm 者，应该排除胎儿合并其他畸形以及 染色体异常，定期随访了解积液量，一般预后较好。3．胎儿泌尿生殖系 统异常中肾积水的发生率最高，Grignon I 级的肾积水中 53.33%在孕期
关键词：胎儿结构异常，产前诊断，超声检查
PRENATAL DIAGNOSIS AND FOLLOW-UP OF FETAL STRUCTURAL ABNORMALITIES
ABSTRACT
Objective:The purpose of this article is to know about the incidence of fetal structural congenital malformations in nearly 10 years,and to discuss the prenatal diagnosis and follow-up of each kind of fetal structural malformations.
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上海交通大学 硕士学位论文 胎儿结构异常的产前诊断和随访 姓名：祝菁 申请学位级别：硕士 专业：妇产科学 指导教师：杨祖菁
20090401
胎儿结构异常的产前诊断和随访
摘要
目的：了解近 10 年我院先天结构畸形的发生率，探讨各类结构畸形 的产前诊断情况及预后。
方法：收集 1998 年 7 月 1 日至 2008 年 6 月 30 日在我院产科经产前 超声或核磁共振检查发现胎儿存在结构异常，引产或出生后 7 天内经新 生儿科医生临床检查、影像学检查、手术或尸解诊断存在先天结构畸形 的病例共 411 例。按照胎儿畸形所在器官系统进行分类讨论，计算各类 畸形的发生率、平均出生孕周、平均出生体重等一般情况；分析各系统 结构异常的发现时间、影像学检查结果与新生儿预后之间的关系。对于 出生后进一步治疗的新生儿，通过病史资料查阅以及电话随访方式了解 治疗结果。
fetal nervous system abnormalities, abdominal wall defect, alimentary system malformations and fetal tumor.8. Prenatal diagnosis with ultrasonography is difficult in dactyl malformations, cleft palate, aproctia, ear deformity and congenital heart diseases.
Conclusion: Congenital heart diseases, urogenital system malformations, facial surface malformations, alimentary system malformations, skeleton and limbs malformations are the main malformations. The operation survival rate of fetal alimentary system malformations and fetal abdominal wall defect is high. The prenatal screening of fetal structural malformations which is from the gestational age of 20 weeks to 24 weeks can not find all malformations. The regular antenatal examination and follow-up fetal’s intrauterine growth by ultrasonography is necessary. Prenatal diagnosis with ultrasonography is difficult in dactyl malformations, cleft palate, aproctia, ear deformity and congenital heart diseases.
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上海交通大学医学院硕士学位论文
前言
据统计约 2%-3%的新生儿在出生时就有先天缺陷，全世界每年大约有 500 万缺 陷婴儿出生，我国每年可能有 80 万-120 万缺陷儿出生[1]，给家庭和社会带来巨大精 神压力和经济负担。据统计目前主要的先天畸形有先天性心脏病、唇腭裂、消化系 统畸形、神经管畸形及泌尿系统畸形[2]。出生缺陷的病因由遗传因素（单基因或多基 因遗传）造成的约占 2%，染色体畸形引起的约占 10%，环境因素所致者 10%，另外 60%原因不明。环境因素包括母体状况（酒精中毒、糖尿病、内分泌疾病、代谢性疾 病、营养等）、感染致病因子（TORCH 等）、化学、药物、高温和辐射。严重的先天性 畸形往往导致死亡，如成活也有可能生活质量受到严重影响。预防、检测和治疗出 生缺陷直接关系到我国出生人口素质的提高以及婴儿病死率的下降，因此作为围产 医学及儿科学医生在胎儿期共同诊断、评估新生儿预后是一项十分重要的工作。