胎儿结构异常产前诊断与随访

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1、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 胎儿结构异常的产前诊断和随访 摘 要 摘 要 目的：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：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

2、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。 结果：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 积水自行消退，II 级的肾积

3、水中 20%在孕期自行消退，20%在孕期积水减 轻为 I 级，出生后大部分能自行消退，无需手术；III-IV 级者积水自行 消退少，大部分需出生后手术治疗；V 级者预后较差。4胎儿消化系统 畸形的手术存活率达 92.11%；腹壁畸形的手术存活率为 83.33%。5胎 儿膈疝检出的孕周越早，且伴有肝脏入胸腔者可能缺损面积大，预后差。 6胎儿胸腔积液合并羊水过多，可作为产前诊断先天性乳糜胸的诊断依 据之一。7MRI 可帮助了解胎儿结构异常的程度，如胎儿神经系统畸形、 腹壁畸形、消化道畸形、胎儿肿瘤等。8B 超在产前诊断胎儿指趾畸形、 单纯腭裂、无肛、耳畸形及心脏大血管畸形有一定困难。 结论：结论：

4、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；对于胎儿消化系统畸 形及腹壁畸形，目前手术存活率较高；孕 20-24 周胎儿大畸形筛查不能 发现所有的结构畸形，需正规产前检查随访胎儿情况；产前诊断胎儿指 趾畸形、单纯腭裂、无肛、耳畸形及心脏大血管畸形有一定困难。 关键词：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 t

5、o 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. Methods: 411cases are collected from July 1st 1998 to June 30th 2008 in our obstetrics department,which were

6、prenatal diagnosed by ultrasono- graphy 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 malfor

7、mations,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 Results:1.Congenital hear

8、t 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 t

9、here 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 c

10、an 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 m

11、alformations 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

12、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 fetal nervous system abnormalities, abdominal wall defect,

13、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 malforma- tions, facial surface malformations

14、, 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

15、20 weeks to 24 weeks can not find all malformations. The regular antenatal examination and follow-up fetals intrauterine growth by ultrasonography is necessary. Prenatal diagnosis with ultrasonography is difficult in dactyl malformations, cleft palate, aproctia, ear deformity and congenital heart di

16、seases. Key words: fetal structural abnormalities,prenatal diagnosis, ultrasonography 上海交通大学上海交通大学 学位论文原创性声明学位论文原创性声明 本人郑重声明：所呈交的学位论文，是本人在导师的指导下，独立 进行研究工作所取得的成果。除文中已经注明引用的内容外，本论文不 包含任何其他个人或集体已经发表或撰写过的作品成果。对本文的研究 做出重要贡献的个人和集体，均已在文中以明确方式标明。本人完全意 识到本声明的法律结果由本人承担。 学位论文作者签名： 日期： 年 月 日 上海交通大学上海交通大学 学位论文版权使用授权书学位论文版权使用授权书 本学位论文作者完全了解学校有关保留、使用学位论文的规定，同 意学校保留并向国家有关部门或机构送交论文的复印件和电子版，允许 论文被查阅和借阅。本人授权上海交通大学可以将本学位论文的全部或 部分内容编入有关数据库进行检索，可以采用影印、缩印或扫描等复制 手段保存和汇编本学位论文。 保密保密，在 年解密后适用本授权书。 本学位论