早期自然流产绒毛染色体检查与相关遗传咨询的关系.

Examination of Early Spontaneous Abortion Villous Chromosome and Related Genetic Counseling.

Objective: To investigate the application value of high-throughput sequencing, fluorescence in situ hybridization (FISH) and karyotype analysis in the detection of villi chromosome abnormality in spontaneous abortion of early pregnancy. Methods：100 patients with spontaneous abortion of early pregnancy in The First Hospital of Shijiazhuang from January 2017 to January 2019 were selected as the research objects. In 100 villus samples, 17 samples were detected by karyotype analysis, 11 samples by FISH, and 72 samples by high - throughput sequencing. Those patients with the successful karyotype detection in villus samples were followed up and provided genetic counseling. The pregnancy outcomes were then analyzed. Results：Finally, 88 cases were successfully detected, and 45 cases with chromosomal abnormalities were detected. There were no significant differences in the success rate of detection and the positive rate of abnormal karyotypes among three detection technologies (P＞0.05). In all 88 cases of successful detection, the follow up visiting was finished in 51 cases, including 32 cases with abnormal villous chromosomes and 19 cases with normal villous chromosomes. The proportion of chromosomal abnormalities in the patients aged ≥35 years was higher than that in the patients aged ＜35 years (75.00% vs. 47.83%, χ2=3.898, P=0.044)， while the proportion of villous chromosomal abnormalities in the patients with the gestation of between 8 and 12 weeks was higher than that in patients with gestational week ＜8 weeks (74.19% vs. 45.00%, χ2=4.432, P=0.035). As for genetic counseling and re-pregnancy outcomes, 32 patients with villous chromosomal abnormalities were followed up, 22 had genetic counseling, 16 had normal re-pregnancy, 4 had miscarriages, and 2 were not pregnant. In 10 patients without genetic counseling, 2 patients had normal pregnancy, 7 were aborted again, and 1 was not pregnant. The outcome of re-pregnancy in the patients with genetic counseling was better than that in the patients without genetic counseling (P＜0.05). Conclusions：The three detection techniques have their own advantages in detecting the villous chromosomes of spontaneous abortion in early pregnancy, which can be selected according to the actual clinical situation. The combined use can improve the detection rate of abnormal karyotypes. Villous chromosome examination should be recommended for the patients aged over 35 years, or the patients with spontaneous abortion within the gestational weeks of 8 to 12. The genetic counseling should be provided for those patients with abnormal villous chromosomes before their re-pregnancy. [ABSTRACT FROM AUTHOR]

目的：通过分析高通量测序、荧光原位杂交（FISH）、核型分析技术在妊娠早期自然流产绒毛 染色体检测的异常情况，分析其结果与遗传咨询的关系及对再次妊娠结局的影响。方法：收集石家庄市第一 医院2017年1月-2019年1月因妊娠早期自然流产就诊的行绒毛染色体检查的100例患者为研究对象，其中接 受核型分析技术检测17例，FISH检测11例，高通量测序技术检测72例，统计3种技术染色体核型检测的异常情 况，并随访成功检出异常患者的遗传咨询情况和妊娠结局。结果：最终成功检测88例，共检出染色体异常者45 例。核型分析技术、FISH技术、高通量测序技术的检测成功率的差异无统计学意义（P＞0.05）。随访情况：88例 检测成功患者完成随访51例，包括32例流产绒毛染色体异常者和19例流产绒毛染色体正常者。年龄≥35岁患 者染色体异常比例高于年龄＜35岁患者（75.00% vs. 47.83%，χ2=3.898，P=0.044）。孕8～12周患者染色体异常比 例高于孕周＜8周的患者（74.19% vs. 45.00%，χ2=4.432，P=0.035）。32例染色体异常的随访患者中，进行遗传咨 询的22例患者再次妊娠时16例正常妊娠，4例再次流产，2例未孕；未进行遗传咨询的10例患者再次妊娠时2例 正常妊娠，7例再次流产，1例未孕。进行遗传咨询患者的再次妊娠结局优于未进行遗传咨询的患者，差异有统 计学意义（P＜0.05）。结论：3种检测技术对妊娠早期自然流产绒毛染色体检测各有优势，使用时应根据临床 实际情况选择，结合使用可提高异常核型检出率。建议35岁以上、孕8～12周的自然流产患者进行绒毛染色体 检查，对绒毛染色体异常者给予遗传咨询。 [ABSTRACT FROM AUTHOR]