一例合并胎儿动脉导管早闭的16p13.11微缺失综合征病例分析及文献复习

Analysis and literature review of a utero closure of the fetal ductus arteriosus and 16p13.11 microdeletion

目的探讨分析胎儿动脉导管早闭的原因。方法对1例产前超声诊断胎儿动脉导管提前收缩的引产死胎进行尸解,结合大体、镜下所见,及基因检测结果综合分析。结果胎儿尸解证实为动脉导管早闭,伴有右心房、右心室扩大、肺动脉扩张,余脏器未见明显异常,基因检测提示16p13.11微缺失。结论本例死胎动脉导管早闭的原因考虑为16p13.11微缺失综合征所致,16p13.11微缺失综合征可能引起胎儿动脉导管早闭等心脏发育畸形,超声提示胎儿心脏发育畸形时有必要做基因检测,以利于优生。

Objective： To explored the cause for utero closure of the fetal ductus arteriosus. Methods： The ultrasound imaging, macroscopy and microscopy of the fetus autopsy and genetic analysis were carried out to analyze the stillbirth fetal. Results： The stillbirth fetal was confirmed for utero closure of the fetal ductus arteriosus by autopsy while right atrial and ventricular enlargement, pulmonary artery dilatation were observed. Deletions of 16p13.11 has been detected. Conclusion： The cause for utero closure of the fetal ductus arteriosus was considered as 16p13.11 microdeletion syndrome. The 16p13.11 microdeletion syndrome might cause congenital heart disease such as utero closure of the fetal ductus arteriosus. Genetic analysis has advantageous to birth health when congenital heart disease was found by echocardiogram.