先天性心脏畸形（CHD）位居出生缺陷的首位，由于胎儿体内卵圆孔和动脉导管循环，个别类型CHD胎儿生后短期内死亡，而另有胎儿期表型严重的CHD，出生后可完全恢复正常；同样由于胎儿循环，部分类型CHD生前生后的解剖特征并不完全一致。除此之外，个别复杂CHD胎儿可胎死宫内。胎儿期另有特殊的功能性心脏病变，如动脉导管早闭，多发生于晚孕期，及时终止妊娠可挽救患儿生命。总之，和婴幼儿相比，胎儿CHD有其特有的解剖表型，转归和预后较特殊。但目前国内外缺乏胎儿CHD解剖表型数据库及预后和转归评估体系，产前诊断医生习惯于参照婴幼儿评估体系评价胎儿CHD，导致一些解剖表型严重，生后预后好的胎儿被引产；而一些胎儿特有功能性心脏病变，因缺乏认知，错过了最好的干预机会而胎死宫内。本研究旨在建立中国胎儿CHD解剖表型数据库及其预后和转归评估体系，并探讨胎儿CHD解剖表型与染色体畸变的关联性。

Congenital heart disease (CHD) is the most common type of birth defects. Due to the existence of the circulation of the oval foramen and arterial duct, some types of fetal CHDs are born dead, while some serious appearance types of CHDs in the fetal period may go back to normal after birth. For the same reason, the anatomical features of some types of CHDs can be inconsistent before and after birth. In addition, very few serious CHDs can lead to intrauterine fetal death. Except for structural lesions, there are specific functional heart problems in the fetal period, such as the early closure of the arterial duct, which mostly occurs in the late pregnancy. And termination of pregnancy timely can save the lives of fetuses. To sum up, compared with infant, fetal CHD has unique anatomical phenotype, and its prognosis and outcome are special. But yet, for lack of fetal CHD anatomical phenotype database and the evaluation system of prognosis and outcome, prenatal doctors are used to evaluating fetal CHDs referring to the evaluation system of infant CHDs, resulting in the termination of pregnancy for some fetuses with serious anatomical phenotype actually with better prognosis after birth. For some types of the fetal specific functional heart diseases, due to the lack of awareness and missing the best opportunity, intrauterine fetal death may occur. This study aims to establish Chinese fetal CHD phenotype databases and the evaluation system of prognosis and outcome, explore the association between fetal CHD anatomical phenotypes and chromosome aberration.

先天性心脏畸形（CHD）位居出生缺陷的首位。胎儿先天性心脏畸形有其特有的解剖表型，转归和预后较特殊。但目前国内外缺乏胎儿CHD解剖表型数据库及预后和转归评估体系，产前诊断医生习惯于参照婴幼儿评估体系评价胎儿CHD，导致一些解剖表型严重，生后预后好的胎儿被引产；而一些胎儿特有功能性心脏病变，因缺乏认知，错过了最好的干预机会而胎死宫内。本研究通过预实验建立了最适合孕12-18周胎儿心脏超薄解剖断层切面数据库的构建方法，包括①标本预处理方法，②断层厚度，③标本标识植入方法，并在此基础上建立了3例孕早期CHD胎儿心脏解剖表型数据库和10例孕中期CHD胎儿心脏解剖表型数据库。截止目前，加上前期研究基础，我们已建立了3例孕早期，80例不同类型孕中期胎儿CHD解剖表型数据库，涉及95%以上的不同类型及75%以上的不同亚型CHD。对继续妊娠的孕早期诊断的先心病胎儿，按已建立的解剖表型分型，随访其预后，初步建立先心病解剖表型和预后的相关性。对孕早中期超声诊断为心脏结构异常者，知情同意后，10例行羊穿后进行常规G-显带染色体核型分析或染色体微畸变检测，4例存在染色体异常，阳性率为40%（4/10）,其中2例为18-三体，1例为45XO，1例为22q11.2微缺失，明确了染色体畸变与先心病发生的相关性。本研究旨在建立孕早中期胎儿CHD解剖表型数据库及其预后和转归评估体系，并探讨胎儿CHD解剖表型与染色体畸变的关联性，用于产前超声诊断人员学习，提高产前超声诊断水平，降低出生缺陷，利于优生优育。