CAJ | 학술논문

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。
목적：탐토계류유산태인조직세포중염색체이상총발생솔급이상충류화각충이상적발생솔。방법：채용18호、X 화 Y 염색체착사립탐침급13、16、21、22호염색체단일서렬탐침,대105례계류유산태인조직진행FISH 검측。결과：49.5%적계류유산시유태인염색체이상인기적；염색체이상적전3위위삼배체,16호염색체삼체,X 단체,분별점염색체이상총발생솔적32.7%、15.4%화15.4%；고령조(≥35세)화비고령조(<35세)이상염색체검출솔분별위60.7%화36.7%,차이유통계학의의(P<0.05)；유자연유산사화무자연유산사자이상염색체검출솔분별위51.9%화49.0%,차이무통계학의의(P>0.05)；임신≤12wk화임신>12wk자염색체이상솔분별위60.9%화31.7%,차이유통계학의의(P<0.05)。결론：계류유산다유유전기인결함인기,응용 FISH 기술검측유산배태,가이쾌속、준학발현교상견적염색체이상,위하일태임신진행유전자순제공자료。
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 13,16,21 and 22 chromosomes were 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 significantdifference(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.