【摘要】 目的 探讨早期自然流产(SA)患者血β-人绒毛膜促性腺激素(β-HCG)和超声表现与胚胎染色体异常的关系。方法 选择2017年1月至2020年12月山东中医药大学附属医院生殖与遗传中心收治的285例早期SA患者为研究对象。通过查阅病历资料收集SA患者妊娠早期血β-HCG值、B超检测结果(如妊娠囊大小、胎芽长度、有无胎心等)等临床资料。取SA患者流产物中的绒毛组织，应用高通量测序进行胚胎染色体分析。分析不同母体血β-HCG值、胚胎B超表现患者的胚胎染色体异常发生情况。结果 285例早期SA患者中，胚胎染色体异常177例(62.11%),其中数目异常147例(51.58%,147/285),拷贝数变异30例(10.53%,30/285)。数目异常中，性染色体单体45,XO异常27例(9.47%,27/285),三倍体69,XXX/69,XXY异常15例(5.26%,15/285),常染色体三体异常99例(34.74%,99/285);常染色体三体异常中，16号三体异常占比最高(8.07%),其次是22号三体(4.56%)。有胎心组胚胎染色体异常率显著高于无胎心组(χ~2=9.834,P<0.05)。有胎心组性染色体单体占比(20.19%,21/104)最高；无胎心组16三体占比(24.66%,18/73)最高。有胎心组常染色体三体、性染色体单体、三倍体占比显著高于无胎心组(χ~2=18.683、8.415、5.246,P<0.05)。有胎心组性染色体单体胚胎的胎芽长度长于16三体、22三体(P<0.05),21三体胚胎的胎芽长度长于22三体(P<0.05),其他不同染色体异常胚胎的胎芽长度比较差异无统计学意义(P>0.05);性染色体单体胚胎的妊娠囊均径长于22三体和三倍体(P<0.05),其他不同染色体异常胚胎的妊娠囊均径比较差异无统计学意义(P>0.05)。β-HCG增长缓慢组胚胎染色体异常发生率显著高于β-HCG增长尚可组(χ~2=40.436,P<0.05)。年龄>35岁患者胚胎染色体异常发生率显著高于≤35岁患者(χ~2=7.383,P<0.05)。结论 胚胎染色体异常是早期SA的重要原因，妊娠早期母体β-HCG联合超声检查对胚胎染色体异常(尤其是三倍体和性染色体单体)的检出有一定临床预测价值。更多还原

【Abstract】 Objective To explore the relationship between the blood β-human chorionic gonadotropin(β-HCG),ultrasound findings and fetal chromosomal abnormalities in patients with spontaneous abortion(SA).Methods A total of 285 early SA patients admitted to Reproductive and Genetic Center of the Affiliated Hospital of Shandong University of Traditional Chinese Medicine from January 2017 to December 2020 were selected as the study subjects.The β-HCG value in blood of SA patients in early pregnancy, B-ultrasound detection results(such as gestational sac size, fetal bud length, fetal heart rate, etc.) and other clinical data were collected by consulting medical records.The chorionic villi from the abortion samples of SA patients were taken, and the embryonic chromosomes were analyzed by high-throughput sequencing.The occurrence of abnormal embryo chromosome in different maternal blood β-HCG value and B-ultrasound of embryo was analyzed.Results Among the 285 patients with early SA,177(62.11%) patients had abnormal embryonic chromosomes, including 147 patients(51.58%,147/285) with abnormal number and 30 patients(10.53%,30/285) with copy number variation.Among the number abnormalities patients, there were 27 patients(9.47%,21/285) with sex chromosome monosomies, 45,XO abnormalities, 15 patients(5.26%,15/285) with triploids 69,XXX/69,XXY abnormalities, 99 patients(34.74%,99/285) with autosomal trisomy abnormalities; among autosomal trisomy abnormalities patients, trisomy 16 was the highest(8.07%),followed by trisomy(4.56%).The rate of chromosomal abnormalities in the no-fetal heart group was significantly higher than those in the non-fetal heart group(χ~2=9.834,P<0.05).The proportions of sex chromosome monosomes in the fetal heart group(20.19%,21/104) was the highest; the proportion of trisomy 16 in the non-fetal heart group(24.66%,18/73) was the highest.The proportions of autosomal trisomy, sex chromosome monosomy and triploid in the fetal heart group was significantly higher than those in the non-fetal heart group(χ~2=18.683,8.415,5.246;P<0.05).The embryo bud length of monosomic embryo in the fetal heart group was significantly longer than those of trisomy 16 embryo and trisomy 22 embryo(P<0.05),and the embryo bud length of trisomy 21 embryo was significantly longer than that of trisomy 22 embryo(P<0.05),there was no significant difference in the embryo bud length of embryo among the other different chromosomal abnormalities(P>0.05);the gestational sac length of monosomic embryo was significantly longer than that of trisomy 22 embryo and triploid embryo(P<0.05),there was no significant difference in the gestational sac length of embryo among the other different chromosomal abnormalities(P>0.05).The incidence of chromosomal abnormalities in embryos in the slowly increased β-HCG group was significantly higher than that in the moderately increased β-HCG group(χ~2=40.436,P<0.05).The incidence of chromosomal abnormalities in embryos in the patients with the age>35 years old was significantly higher than that of patients with the age ≤ 35 years old(χ~2=7.383,P<0.05).Conclusions Fetal chromosome abnormality is an important cause of early SA,β-HCG combined with ultrasound has a certain clinical predictive value for the detection of fetal chromosome abnormalities, especially triploid and sex chromosome monomer.更多还原