2000年至2021年日本24175例流产胎儿的染色体检测结果分析
Analysis of Chromosome Test Results of 24,175 Miscarried Fetuses in Japan from 2000 to 2021.
作者信息
Takaki Haruyoshi, Kitagawa Rie, Takano Takako
机构信息
Tachikawa Faculty of Nursing, Tokyo Healthcare University, Tokyo, Japan.
Department of Chromosome and Cellular Immunology Analysis, SRL Inc., Tokyo, Japan.
出版信息
Cytogenet Genome Res. 2024;164(5-6):194-201. doi: 10.1159/000542086. Epub 2024 Nov 15.
BACKGROUND
Fetal chromosome abnormalities, the most common cause of spontaneous abortion, were investigated pre-1980s. In recent years, chromosome testing has been outsourced to testing companies in Japan, and there have been few epidemiological studies of chromosome testing of miscarried fetuses on a nationwide scale.
METHODS
We analyzed the chromosome test data of SRL Inc., one of the largest clinical laboratories that has collected tissue specimens of products of conception derived from miscarried fetuses from hospitals throughout Japan from 2000 to 2021.
RESULTS
We collected and analyzed 24,175 cases, among which 8,726 (36.1%) with normal chromosomes, 1,298 (5.4%) with sex chromosome aberrations, 9,735 (40.3%) with autosomal trisomy, 73 (0.3%) with autosomal monosomy, 840 (3.5%) with polyploidy, 512 (2.1%) with chromosomal structural abnormality, and 2,991 (12.4%) with mosaic, respectively. The frequency of autosomal trisomy increased at the older maternal ages. By chromosome number, trisomies 22, 16, 21, and 15 were associated with advanced maternal age, but trisomies 13, 14, and 18 were not associated with advanced maternal age. The presence or absence of this maternal age effect was correlated with the chromosome segregation being due to maternal meiosis I or meiosis II. For the sex ratios of the fetuses, we focused on trisomies 22, 21, 18, 16, 15, 14, and 13 and found that only trisomy 16 was significantly more frequently seen in female fetuses.
CONCLUSION
The findings of this study provide insights into the basic understanding of miscarriage and will be useful in counseling and medical education.
BACKGROUND
Fetal chromosome abnormalities, the most common cause of spontaneous abortion, were investigated pre-1980s. In recent years, chromosome testing has been outsourced to testing companies in Japan, and there have been few epidemiological studies of chromosome testing of miscarried fetuses on a nationwide scale.
METHODS
We analyzed the chromosome test data of SRL Inc., one of the largest clinical laboratories that has collected tissue specimens of products of conception derived from miscarried fetuses from hospitals throughout Japan from 2000 to 2021.
RESULTS
We collected and analyzed 24,175 cases, among which 8,726 (36.1%) with normal chromosomes, 1,298 (5.4%) with sex chromosome aberrations, 9,735 (40.3%) with autosomal trisomy, 73 (0.3%) with autosomal monosomy, 840 (3.5%) with polyploidy, 512 (2.1%) with chromosomal structural abnormality, and 2,991 (12.4%) with mosaic, respectively. The frequency of autosomal trisomy increased at the older maternal ages. By chromosome number, trisomies 22, 16, 21, and 15 were associated with advanced maternal age, but trisomies 13, 14, and 18 were not associated with advanced maternal age. The presence or absence of this maternal age effect was correlated with the chromosome segregation being due to maternal meiosis I or meiosis II. For the sex ratios of the fetuses, we focused on trisomies 22, 21, 18, 16, 15, 14, and 13 and found that only trisomy 16 was significantly more frequently seen in female fetuses.
CONCLUSION
The findings of this study provide insights into the basic understanding of miscarriage and will be useful in counseling and medical education.
背景
胎儿染色体异常是自然流产最常见的原因，20世纪80年代以前对此进行过研究。近年来，染色体检测已外包给日本的检测公司，全国范围内关于流产胎儿染色体检测的流行病学研究很少。
方法
我们分析了SRL公司的染色体检测数据，该公司是日本最大的临床实验室之一，从2000年到2021年收集了来自日本各地医院流产胎儿的妊娠产物组织标本。
结果
我们收集并分析了24175例病例，其中染色体正常的有8726例（36.1%），性染色体异常的有1298例（5.4%），常染色体三体的有9735例（40.3%），常染色体单体的有73例（0.3%），多倍体的有840例（3.5%），染色体结构异常的有512例（2.1%），嵌合体的有2991例（12.4%）。常染色体三体的发生率在母亲年龄较大时增加。按染色体编号，22、16、21和15号三体与母亲年龄较大有关，但13、14和18号三体与母亲年龄较大无关。这种母亲年龄效应的有无与染色体分离是由于母亲减数分裂I还是减数分裂II有关。对于胎儿的性别比例，我们重点关注22、21、18、16、15、14和13号三体，发现只有16号三体在女胎中明显更常见。
结论
本研究结果为流产的基本认识提供了见解，将有助于咨询和医学教育。
背景
胎儿染色体异常是自然流产最常见的原因，20世纪80年代以前对此进行过研究。近年来，染色体检测已外包给日本 的检测公司，全国范围内关于流产胎儿染色体检测的流行病学研究很少。
方法
我们分析了SRL公司的染色体检测数据，该公司是日本最大的临床实验室之一，从2000年到2021年收集了来自日本各地医院流产胎儿的妊娠产物组织标本。
结果
我们收集并分析了24175例病例，其中染色体正常的有8726例（36.1%），性染色体异常的有1298例（5.4%），常染色体三体的有9735例（40.3%），常染色体单体的有73例（0.3%），多倍体的有840例（3.5%），染色体结构异常的有512例（2.1%），嵌合体的有2991例（12.4%）。常染色体三体的发生率在母亲年龄较大时增加。按染色体编号，22、16、21和15号三体与母亲年龄较大有关，但13、14和18号三体与母亲年龄较大无关。这种母亲年龄效应的有无与染色体分离是由于母亲减数分裂I还是减数分裂II有关。对于胎儿的性别比例，我们重点关注22、21、18、16、15、14和13号三体，发现只有16号三体在女胎中明显更常见。
结论
本研究结果为流产的基本认识提供了见解，将有助于咨询和医学教育。
Zotero 插件