Ursell P C, Byrne J M, Strobino B A
Circulation. 1985 Dec;72(6):1232-6. doi: 10.1161/01.cir.72.6.1232.
We investigated the impact of heart defects on the developing human fetus by examining 412 hearts from consecutive spontaneous abortuses. In each case, the cardiac morphology was correlated with the autopsy findings and the karyotype (unavailable in 115 hearts not successfully cultured). Of the 412 hearts, 10 (2.4%) contained structural defects (six ventricular septal defects, one atrial septal defect with ventricular septal defect, and one each coarctation, atrioventricular septal defect, and tetralogy of Fallot). Only one of 10 had major extracardiac malformations. Of the 277 fetuses with normal karyotype, three (1.1%) had heart defects. Of the 20 fetuses with abnormal karyotype, four (20%) had heart defects. In the remaining three fetuses with heart defects, the karyotype was not obtained. Thus (1) 57% of spontaneous abortuses with congenital heart defects contained major chromosomal abnormalities, (2) the spectrum of heart defects among spontaneous abortuses was similar to that among liveborns, and (3) since the prevalence of heart defects among fetuses without other major abnormalities was similar to that among liveborns, heart defects alone may not jeopardize the survival of a developing fetus.
我们通过检查412例连续自然流产胎儿的心脏，研究了心脏缺陷对发育中的人类胎儿的影响。在每例中，心脏形态与尸检结果及核型相关（115例未成功培养的心脏无法获得核型）。在412例心脏中，10例（2.4%）存在结构缺陷（6例室间隔缺损、1例房间隔缺损合并室间隔缺损、1例主动脉缩窄、1例房室间隔缺损和1例法洛四联症）。10例中只有1例伴有主要的心外畸形。在核型正常的277例胎儿中，3例（1.1%）有心脏缺陷。在核型异常的20例胎儿中，4例（20%）有心脏缺陷。在其余3例有心脏缺陷的胎儿中，未获得核型。因此，（1）57%患有先天性心脏缺陷的自然流产胎儿存在主要染色体异常，（2）自然流产胎儿中的心脏缺陷谱与活产儿相似，（3）由于无其他主要异常的胎儿中心脏缺陷的患病率与活产儿相似，单纯心脏缺陷可能不会危及发育中胎儿的存活。
