[关键词]
[摘要]
目的: 探讨稽留流产胎儿组织细胞中染色体异常总发生率及异常种类和各种异常的发生率。方法:
采用18 号、X 和Y 染色体着丝粒探针及13、16、21、22 号染色体单一序列探针,对105 例稽留流产胎儿组织进行
FISH 检测。结果: 49. 5%的稽留流产是由胎儿染色体异常引起的; 染色体异常的前3 位为三倍体,16 号染色体
三体,X 单体,分别占染色体异常总发生率的32. 7%、15. 4% 和15. 4%; 高龄组( ≥35 岁) 和非高龄组( <35 岁)
异常染色体检出率分别为60. 7%和36. 7%,差异有统计学意义( P<0. 05) ; 有自然流产史和无自然流产史者异
常染色体检出率分别为51. 9%和49. 0%,差异无统计学意义( P>0. 05) ; 妊娠≤12wk 和妊娠>12wk 者染色体异
常率分别为60. 9%和31. 7%,差异有统计学意义( P<0. 05) 。结论: 稽留流产多由遗传基因缺陷引起,应用FISH
技术检测流产胚胎,可以快速、准确发现较常见的染色体异常,为下一胎妊娠进行遗传咨询提供资料。
[Key word]
[Abstract]
Objective: To explore the total incidence of chromosomal abnormality, types of chromosomal
abnormality and incidences of various chromosomal abnormalities in missed abortion. Methods:
Centromere probes of 18,X and Y chromosomes and single sequence probes of 13,1
6, 21 and 22 chromosomeswere used for fluorescence in situ hybridization( FISH) detection among 105 samples of missed
abortion tissue. Results: 49. 5% of missed abortion were caused by fetal chromosomal abnormality; the
top three types of chromosomal abnormality were triploid,trisomy 16 and 45,X,accounting for
32. 7%, 15. 4% and 15. 4% of the total number of chromosomal abnormality,respectively. The
detection rate of chromosomal abnormality in advanced age group( ≥35 years) was 60. 7%,while the
detection rate of chromosomal abnormality in non-advanced age group( <35 years) was 36. 7%, there
was significant difference( P<0. 05) . The detection rate of chromosomal abnormality in the cases with
history of spontaneous abortion was 51. 9%,while the detection rate of chromosomal abnormality in the
cases without history of spontaneous abortion was 49. 0%, there was no significant difference ( P
>0. 05) . The detection rate of chromosomal abnormality in the cases of ≤12 gestational weeks was
60. 9%,while the detection rate of chromosomal abnormality in the cases of >12 gestational weeks was
31. 7%, there was significant difference( P<0. 05) . Conclusion: Most missed abortion are caused by
genetic gene defect,FISH technique can detect aborted fetuses, find chromosomal abnormality rapidly
and accurately,provide data for genetic counseling of subsequent pregnancy.
[中图分类号]
R714. 21
[基金项目]