2118例产前血清学筛查检出多种染色体异常分析  

Analysis on prenatal serological screening for various chromosomal abnormalities in 2118 cases

作　　者：钟世林[1] 邓玉清[1] 石宇[1] 肖晓素[1] 雷桔红[1] 杜静[1] 

机构地区：[1]北京大学深圳医院妇产科,广东深圳518036

出　　处：《中国妇幼保健》2015年第27期4668-4670,共3页Maternal and Child Health Care of China

摘　　要：目的探讨血清学筛查对多种胎儿染色体异常检出的临床价值。方法将2 118例血清学筛查提示21-三体高风险、18-三体高风险、神经管缺陷(NTD)高风险、临界风险或单项指标异常的孕妇进行侵入性产前诊断检查胎儿染色体。结果共检出胎儿染色体异常68例,总检出率为3.21%,类型除21-三体、18-三体外,还包括13三体、嵌合型21单体、嵌合型45,X、嵌合型47,XXX、69,XXX、易位、缺失和倒位等;21-三体高风险、18-三体高风险、NTD高风险、临界风险及单项指标异常中异常染色体检出率分别为2.81%、7.09%、6.06%、3.19%和5.46%。结论除21-三体和18-三体外,血清学筛查高风险对其他类型的染色体数目异常和结构异常也有指示作用,当筛查结果为临界风险和单项指标异常时也应警惕胎儿染色体异常。Objective： To explore the clinical value of serological screening for various chromosomal abnormalities. Methods： Invasive prenatal diagnosis and fetal chromosomal analysis were performed in 2 118 pregnant women suspected of high risk,critical risk or single marker abnormality of trisomy 21,trisomy 18,and neural tube defect（ NTD） after serological screening. Results： Sixty- eight cases with fetal chromosomal abnormalities were detected,the total detection rate was 3. 21%,the main types of chromosomal abnormalities included trisomy 21,trisomy 18,trisomy 13,mosaic type trisomy 21,mosaic type 45,X,mosaic type 47,XXX,69,XXX,translocation,deletion,and inversion. The detection rates of chromosomal abnormalities among the pregnant women suspected of high risk,critical risk or single marker abnormality of trisomy 21,trisomy 18,and NTD after serological screening were 2. 81%,7. 09%,6. 06%,3. 19%,and 5. 46%,respectively. Conclusion： Besides trisomy 21 and trisomy 18,serological screening high risk is meaningful for the other numerical and structural chromosomal abnormalities. Fetal chromosomal abnormalities should be paid attention to when the results of serological screening are critical risk and single marker abnormality.

关 键 词：血清学筛查 产前诊断 染色体异常 

分 类 号：R715[医药卫生—妇产科学]