G显带和aCGH技术联合检测92例早期自然流产妊娠物核型分析

Detection of the Karyotype in 92 First Trimester Spontaneous Abortions by G-banding in Combination with aCGH Tethnology

目的:探讨影响早期自然流产妊娠物染色体异常的因素以及微阵列比较基因组杂交技术(aCGH)在流产妊娠物核型检测中的应用价值。方法:收集在我院妇产科门诊确诊为"胚胎停育"的病例共92例,对清宫后获得的妊娠物进行绒毛染色体G显带核型分析,绒毛体外培养或G显带分析失败的进行aCGH检测。结果:本实验对92例自然流产妊娠物的绒毛组织进行体外培养,85例(92.4%)G显带染色体核型分析成功,失败的7例进行aCGH检测,两种方法联合分析的成功率100%。其中异常核型50例(异常率54.3%),非整倍体40例(非整倍体率43.5%)。复发性流产和偶发性流产患者的异常率分别是50.0%和58.3%,差异无统计学意义(P>0.05)。年龄≥35岁患者妊娠物核型为非整倍体的概率(61.5%)大于年龄<35岁的患者(36.4%),差异有统计学意义(P<0.05)。流产儿男女性别比约为1∶1.2,男性胚胎核型异常率(42.9%)小于女性(64.0%),差异有统计学意义(P<0.05)。超声检查示妊娠囊内无胎芽和有胎芽患者的核型异常率分别为53.3%和54.8%(P>0.05);曾见胎心和从未见胎心患者的异常率分别为58.7%和50.0%,差异均无统计学意义(P>0.05)。结论:自然流产妊娠物核型异常的风险与流产次数以及有无胎芽或胎心无关,非整倍体妊娠的风险随母体年龄增大,女性胚胎在早孕期更易发生染色体异常。aCGH技术在检测流产妊娠物核型中有优越性。

Objective：To investigate the influencing factors of chromosomal abnormalities in the first trimester spontaneous abortions and the application of array-based comparative genomic hybridization（aCGH） in analyzing the karyotype of products of conception. Methods ：92 spontaneous abortion specimens（chorion- ic villus samples） were selected from the gynecological outpatient service of Provincial Hospital Affiliated to Shangdong University, which was identified as ＂embryonic demises＂. Chorionic villus samples were cultured in vitro and analyzed by standard G-banding techniques;failed cultured or G-banding samples were detected by aCGH. Results：Karyotyping by standard G-banding techniques was attempted on 92 spontaneous abortion specimens, in which 85 specimens were analyzed successfully（92.4% ）, and 7 specimens that failed to yield a karyotype were detected by aCGH. The success rate of conjoint analysis by the two methods was 100%. Chromosome abnormalities were found in 50 specimens（54. 3% ） and of which 40 were aneuploidy （43. 5% ）. The rate of chromosomal abnormality in recurrent spontaneous abortions group and sporadic abortions group was 50. 0% and 58.3% respectively （ P 〉 0.05 ）, there was no significant statistically differ- ence. The frequency of aneuploidy in women aged I〉35 years old（61.5% ） was higher than that in women aged 〈 35 years old （36.4%）, there was significant statistically difference（ P 〈 0. 05）. The gender ratio （male to female）of abortus was 1 ： 1.2, The frequency of abnormal embryonic karyotypes in male abortions was less than that in female abortions, at 42.9% and 64. 0% respectively, there was significant statistically difference（ P 〈 0.05）. The abnormality rate in anembryonic gestations was 53. 3%,which was not statistically different from the 54. 8% rate seen in pregnancies with embryonic poles. When comparing miscarriages with and without a history of documented cardiac activity,there was no statistically significant difference in the rate of abnormal karyotypes,at 58.7% and 50. 0% respectively （ P 〈 0.05）. Conclusions： Chromosomal abnormalities in the first trimester spontaneous abortions are not related to the number of spontaneous abortions, embryonic pole presence or absence or fetal heart activity, but the risk increased with maternal age. Female fetus have higher risk of chromosomal abnormalities in early stages of pregnancy. ACGH has a remarkable advantage in detecting the karyotype of abortion products.