中孕期高龄孕妇胎儿染色体核型与脉络膜囊肿的相关性分析  

Correlation between fetal chromosomal karyotype and choroid plexus cyst at second trimester of advanced maternal age

作　　者：王慧珠[1] 栗河舟[1] 阎冰[2] 董艳会[1] 岳丽芳[1] 

机构地区：[1]郑州大学第三附属医院超声科,郑州450052 [2]郑州大学第一附属医院重点实验室,郑州450052

出　　处：《中华实用诊断与治疗杂志》2016年第9期870-871,共2页Journal of Chinese Practical Diagnosis and Therapy

基　　金：2014年河南省教育厅科学技术研究重点项目(14A320025)

摘　　要：目的探讨中孕期高龄孕妇胎儿染色体核型与脉络膜囊肿的相关性。方法孕16～22周行羊水穿刺孕妇1018例，回顾性分析其染色体检查结果及超声检出胎儿脉络膜囊肿的情况。结果1018例中染色体正常核型940例，染色体异常核型78例；染色体正常核型者超声检出双侧或单侧脉络膜囊肿17例（1．81％），其中孤立性脉络膜囊肿11例（1．17％），合并其他畸形6例（0．64％）；染色体异常核型者超声检出双侧或单侧脉络膜丛囊肿5例（6．41％），其中孤立性脉络膜囊肿2例（2．56％）（21-三体综合征及18-三体综合征各1例），合并其他畸形3例（3．85％）（均为18-三体综合征）。结论中孕期高龄孕妇染色体正常及异常者均可出现脉络膜囊肿，对高龄孕妇进行胎儿染色体核型分析有重要价值。Objective To discuss the correlation between fetal chromosomal karyotype and choroid plexus cyst （CPC） at second trimester of advanced maternal age （AMA）. Methods The chromosome results and the ultrasound results of choroid plexus cyst were retrospectively analyzed in 1 018 AMA patients with 16 to 22 pregnant weeks receiving amniocentesis. Results Among 1 018 AMA patients, chromosomal karyotype was normal in 940 patients and adnormal in 78 patients. In those with normal chromosomal karyotype, bilateral or unilateral CPC was detected in 17 patients by ultrasound, with detection rate of 1.81%, in which there were 11 patients with simple CPC （1.17 %） and 6 patients with multiple functional abnormalities （0.64%）. In those with abnormal chromosomal karyotype, bilateral or unilateral CPC was detected in 5 patients by ultrasound, with detection rate of 6.41%, in which there were 2 patients with simple CPC （2.56%） （1 patient with 21-trisomy syndrome and 1 patient with 18-trisomy syndrome）, and 3 patients with multiple functional abnormalities （3.85%） （3 patients with 18-trisomy syndrome）. Conclusion CPC can be checked in both normal and abnormal chromosome karyotype patients at second trimester of AMA, so it is necessary to carry out chromosome karyotype examination for AMA pregnant women.

关 键 词：脉络膜囊肿 高龄孕妇 染色体核型 胎儿 

分 类 号：R714.5[医药卫生—妇产科学] R445.1[医药卫生—临床医学]