摘要
目的分析超声及β-人绒毛膜促性腺激素(β-HCG)评估胚胎的发育情况与胚胎染色体异常的相关性。方法回顾性分析2017年1月-2020年12月山东中医药大学附属医院生殖与遗传中心285例流产后成功进行流产物组织细胞培养并进行高通量DNA测序分析的自然流产患者的临床资料。根据B超监测曾有无出现胎心搏动分为出现胎心组(n=146)和无胎心组(n=139),是否为空孕囊分为空孕囊组(n=44)和非空孕囊组(n=241);根据48 hβ-HCG平均增长幅度标准(是否低于53%)分为β-HCG增长缓慢组(n=163)和β-HCG增长尚可组(n=122)。结果285例早期自然流产患者中,胚胎染色体异常占62.11%(177/285),其中数目异常者占比最大83.05%(147/177),拷贝数变异(CNVs)次之占16.95%(30/177)。数目异常中,常染色体三体最多99例;性染色体单体45,XO次之27例;三倍体69,XXX/69,XXY 15例;其他染色体异常6例。常染色体三体异常中,16三体最多23例,其次为22三体13例、15三体12例、21三体9例等。出现胎心组胚胎染色体异常率(71.23%)高于无胎心组(52.52%),非空孕囊组胚胎染色体异常率(64.73%)高于空孕囊组(47.73%),β-HCG增长缓慢组胚胎染色体异常率(77.91%)高于β-HCG增长尚可组(40.98%),以上差异均有统计学意义(χ^(2)=10.597、4.571、40.436,P均<0.05)。结论胚胎染色体异常是早期自然流产的重要原因,超声监测下胎儿发育差的自然流产未必是胚胎染色体异常导致,母体血清β-HCG增长速度可一定程度反映胚胎染色体情况。
Objective To analyze the correlation between ultrasound and β-human chorionic gonadotropin(β-HCG)assessment of embryo development and embryonic chromosomal abnormalities.Methods The clinical data of 285 patients with spontaneous abortion who were successfully cultured and analyzed by high-throughput DNA sequencing after abortion in the Reproduction and Genetics Center of Affiliated Hospital of Shandong University of Traditional Chinese Medicine from January 2017 to December 2020 were analyzed retrospectively.According to the previous presence of fetal heart beat by B-ultrasound,the patients were divided into fetal heart beat group(n=146)and non-fetal heart beat group(n=139).According to whether empty pregnancy sac was monitored by B ultrasound,they were divided into empty pregnancy sac group(n=44)and non-empty pregnancy sac group(n=241).According to the average growth rate of 48-hourβ-HCG(whether less than 53%),they were divided into slowβ-HCG growth group(n=163)and normalβ-HCG growth group(n=122).Results Among the 285 patients with early spontaneous abortion,the embryonic chromosome abnormality rate was 62.11%(117/285).Chromosomal number abnormalities account for the highest proportion of 83.05%(147/177),followed by copy number variation(CNVs)account for 16.95%(30/177).Among chromosomal number abnormalities,autosomal trisomy abnormalities account for the highest proportion of 99 cases,followed by sex chromosome monosomy in 27 cases,triploid in 15 cases,and other chromosomal abnormalities in 6 cases.Among autosomal trisomy abnormalities,trisomy 16 account for the highest proportion of 23 cases,followed by trisomy 22 in 13 cases,trisomy 15 in 12 cases,trisomy 21 in 9 cases.The rate of embryonic chromosomal abnormality in fetal heart beat group(71.23%)was higher than that in non-fetal heart beat group(52.52%),the rate of embryonic chromosomal abnormality in the non-empty pregnancy sac group(64.73%)was higher than that in the empty pregnancy sac group(47.73%),the rate of embryonic chromosome abnormality in the slowβ-HCG growth group(77.91%)was higher than that in the normalβ-HCG growth group(40.98%),all the above differences were statistically significant(χ^(2)=10.597,4.571,40.436;all P<0.05).Conclusions Embryonic chromosomal abnormality is an important cause of early spontaneous abortion.Spontaneous abortion with poor fetal development under ultrasound monitoring may not be caused by embryonic chromosome abnormality.The growth rate of maternal serumβ-HCG can reflect embryonic chromosome condition to a certain extent.
作者
李莉
刘梅
张宁
LI Li;LIU Mei;ZHANG Ning(Traditional Chinese Medicine College,Shandong University of Traditional Chinese Medicine,Jinan,Shandong 250014,China;Department of Obstetrics,Affiliated Hospital of Shandong University of Traditional Chinese Medicine,Jinan,Shandong 250011,China)
出处
《热带医学杂志》
CAS
2023年第12期1738-1741,共4页
Journal of Tropical Medicine
基金
山东省自然科学基金面上项目(ZR2022MH321,ZR2021MH003)
关键词
自然流产
胚胎染色体
人绒毛膜促性腺激素
超声
Spontaneous abortion
Embryonic chromosome
Human chorionic gonadotropin
Ultrasonography
作者简介
李莉(1996-),女,硕士研究生,主要研究辅助生殖技术中的中药调理及助孕治疗;通信作者:刘梅,E-mail:xiaoliumei2001@163.com;通信作者:张宁,E-mail:ning_zhang1975@163.com
