摘要
【目的】研究染色体异常胎儿的畸形病理特征,为提高染色体异常胎儿的产前检出率提供形态学依据。【方法】行脐带穿刺术取脐血进行胎儿染色体核型分析,对终止妊娠后娩出胎儿进行病理解剖,并结合临床资料分析及与产前超声筛查结果进行对比。【结果】检出的25例染色体异常胎儿均表现为多发畸形,涉及各个系统。其中17例有心血管系统畸形(68%),最多见为室间隔缺损,其与染色体异常关系最密切。小下颌、叠指畸形也是较常见的畸形,见于18三体。18三体和13三体的畸形在超声筛查中检出率较高。【结论】18三体和13三体的畸形形态学特征较明显,21三体畸形特征相对不典型。在产前超声筛查中若发现胎儿畸形,应行详细地遗传学超声检查,重点检查心血管系统,并注意伴发的提示染色体异常的其他畸形,以免漏诊。
[ Objective ] To study abnormal morphological characteristics on fetal chromosomal abnormalities and to achieve morphological basis for increasing the prenatal detection rate of them. [ Methods] Cordocentesis were performed on pregnant women with the indications of prenatal diagnosis. Chromosomal karyotypes were analyzed in fetal blood samples. Fetal autopsy were performed in abnormal fetuses and then compared with the results of prenatal ultrasound screening. The clinical data of pregnant woman were analyzed also. [Results] Chromosomal anomalies in 25 fetuses show multisystem malformation. 17 cases have cardiovascular malformations （68%）. The most common defect was ventricular septal defect, which with the most closely related to chromosomal abnormalities. Micrognathia also was more common defects in trisomy 18. The vast majority of fetus with trisomy 13 and 18 can be detected by routine ultrasound examination. [Conclusion] Fetus with trisomy 13 and 18 have more obvious morphological characteristics. In contrast, in Down＇s syndrome fetuses the structural defects are subtle and often isolated. If we found fetal malformations at prenatal ultrasound screening, detail genetic sonogram should be performed, focus on the cardiovascular system. Pay more attention to other defects that related with chromosomal abnormalities.
出处
《中山大学学报（医学科学版）》
CAS
CSCD
北大核心
2009年第A04期252-256,共5页
Journal of Sun Yat-Sen University:Medical Sciences
关键词
染色体异常
畸形
产前诊断
尸体解剖
chromosomal abnormality
malformation
prenatal diagnosis
autopsy
