18例完全型房室间隔缺损胎儿尸检临床病理分析

Autopsy Clinicopathological Analysis of 18 Fetuses with Complete Atrioventricular Septal Defect

目的总结分析18例CAVSD胎儿合并其它部位畸形及染色体核型异常情况,以加深对CAVSD的认识。方法对18例CAVSD的胎儿尸检报告、彩超报告及染色体核型分析报告进行回顾总结,并复习相关文献。结果4例CAVSD无伴发其它部位畸形,其中2例严重小于胎龄儿;14例CAVSD伴发心内或心外畸形,共计合并38畸次,包括右室双出口5畸次、肺动脉闭锁或狭窄5畸次、完全性或不完全性肺静脉异位引流3畸次、永久性右脐静脉3畸次、永存左上腔3畸次、内脏反位2畸次、右房异构2畸次、主动脉缩窄2畸次及大动脉转位、永存动脉干、双肾增大、足外翻、鼻骨短、小脑蚓部缺失、左肺三叶、淋巴水囊瘤、全身皮肤水肿、唇腭裂、右侧胃泡、右位心及右位主动脉弓各1畸次。73.3%(11/15)病例具有染色体核型异常,其中含7例21-三体,2例女性假两性畸形,1例45X(Turner综合征)及1例47XXX(多X综合征)。12例胎盘送检病理镜下均显示绒毛不同程度的间质水肿及形态不规则,8例伴脐带附着异常。结论CAVSD常合并心内外多部位畸形,且与染色体核型异常及胎盘发育异常等因素相关,超声结合染色体核型分析可以对产前心脏畸形进行出色的筛查,但仍需病理解剖明确诊断。

Objective To summarize and analyze 18 cases of CAVSD fetuses with other malformations and karyotype abnormalities in order to deepen the understanding of CAVSD.Methods 18 cases of CAVSD were reviewed and summarized including the fetal autopsy reports,color Doppler ultrasound reports and karyotype analysis reports,and related literatures were reviewed.Results 4 cases of CAVSD were not associated with other malformations,of which 2 cases were severely smaller than gestational age infants;14 cases of CAVSD were associated with intracardiac or extracardiac malformations,a total of 38 malformations,including 5 malformations of right ventricular double outlet,5 malformations of pulmonary atresia or stenosis,3 malformations of complete or incomplete pulmonary venous drainage,3 malformations of permanent right umbilical vein,3 malformations of permanent upper left cavity,2 malformations of visceral reversal,2 malformations of right atrial heterogeneous,2 malformations with Coarctation of the aorta and 1 malformation of permanent arterial trunks,transposition of the great arteries,enlarged kidneys,foot valgus,short nasal bones,loss of cerebellar vermis,left lung trilobe,lymphatic cystoma,skin edema of the whole body,cleft lip and palate,The right gastric bleb,right heart and right aortic arch.73.3%(11/15)of the cases had abnormal karyotypes,including 7 cases of trisomy-21,2 cases of female pseudohermaphroditism,1 case of 45X(Turner syndrome),and 1 case of 47XXX(Multiple X Syndrome).12 cases of placenta were submitted for pathological examination,all showed varying degrees of interstitial edema and irregular shape of villi under microscope,and 8 cases had abnormal umbilical cord attachment.Conclusion CAVSD is often associated with multiple intra-and extra-cardiac malformations,and is related to factors such as chromosomal karyotype abnormalities and placental development abnormalities.Ultrasound combined with chromosome karyotype analysis can perform excellent screening for prenatal cardiac abnormalities,but pathological anatomy is required for a clear diagnosis.