稽留流产的胎儿绒毛染色体异常及相关因素分析

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目的:探讨稽留流产的胚胎绒毛染色体异常与口服叶酸、年龄、胚胎孕周及流产次数的关系。方法:收集稽留流产的胚胎绒毛组织82例,采用新一代基因测序(NGS)技术检测胚胎绒毛染色体,分析口服叶酸、年龄、胚胎孕周、流产次数与染色体异常的关系。结果:82例稽留流产的胚胎绒毛染色体中,46例(56.10%,46/82)异常,其中数目异常38例(82.61%,38/46),结构异常8例(17.39%,8/46),三体发生率89.47%(34/38)。82例胚胎绒毛染色体中,排除胚胎孕周等因素对年龄的影响,选择25~39岁孕妇的胚胎绒毛染色共74例,其中染色体异常率62.16%(46/74),35~39岁孕妇的染色体异常率(43.48%,20/46)高于30~34岁(23.91%,11/46)、25~30岁(32.61%,15/46),差异有统计学意义(P<0.05),30~35岁孕妇的染色体异常率与25~30岁孕妇比较,差异无统计学意义(P>0.05)。82例胚胎绒毛染色体中,排除年龄等因素对胚胎孕周的影响,胚胎停育孕周8~12周共78例,染色体异常率55.13%(43/78),胚胎停育孕周≤8周的染色体异常率(58.14%,25/43)高于8~12周(41.86%,18/43),差异有统计学意义(P<0.0167)。流产1~5次的染色体异常率与流产0次比较,口服叶酸与未口服叶酸比较,差异无统计学意义(P>0.05)。结论:胚胎绒毛染色体异常是引起稽留流产的重要因素,稽留流产的胚胎绒毛染色体异常与年龄、胚胎孕周密切相关,与是否口服叶酸、流产次数(0~5次)无显著关系。 Objective: To investigate the relationship between chromosomal abnormalities of aborted fetus and missed oral folic acid, age, gestational weeks and the number of abortions. Methods: Totally 82 cases of aborted embryo villi were collected. Genome villus chromosomes were detected by next generation gene sequencing (NGS) technique. The relationship between oral folic acid, age, gestational weeks, abortion frequency and chromosomal abnormalities was analyzed. Results: Among the 82 aborted chorionic villus chromosomes, 46 cases (56.10%, 46/82) were absent. Among them, 38 cases were abnormal in number (82.61%, 38/46), 8 cases were abnormal in structure (17.39%, 8/46) , Trisomy 89.47% (34/38). In 82 chorionic villus chromosomes, excluding embryo gestational age and other factors on the age, 74 chorionic villi were selected from 25 to 39-year-old pregnant women, including 62.16% (46/74) chromosomal abnormalities, 35-39 years old pregnant women The rates of chromosomal abnormalities (43.48%, 20/46) were significantly higher than those of patients aged 30-34 (23.91%, 11/46) and 25-30 years (32.61%, 15/46) The chromosomal abnormalities in pregnant women aged 30-35 years were not significantly different from those in 25-30 years old women (P> 0.05). Among the 82 cases of chorionic villi in embryos, excluding age and other factors influenced the gestational age of embryos, there were 78 cases with gestational weeks of 8-12 weeks, the rate of chromosomal abnormalities was 55.13% (43/78), the gestational weeks ≤ 8 weeks (58.14%, 25/43) were higher than those of 8-12 weeks (41.86%, 18/43), the difference was statistically significant (P <0.0167). Abortion 1 to 5 times the rate of chromosomal abnormalities compared with 0 abortion, oral folic acid and no oral folic acid compared, the difference was not statistically significant (P> 0.05). Conclusion: Chromosome abnormalities in embryos are an important factor leading to missed abortion. Abnormal chromosomal abnormalities in aborted fetuses are closely related to age and gestational age of embryos. There is no significant correlation between abortion and ovarian folic acid (0 ~ 5 times).
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