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Abstract：
BACKGROUND: Abnormal foetal tissue chromosome karyotypes are one of the important pathogenic factors for spontaneous abortion (SA). To investigate the age and abnormal foetal karyotypes of 1903 couples who experienced SA.
METHODS: A retrospective multicentre study collected age and foetal tissue karyotypes CNV-seq data of 1903 SA couples from 6 hospitals in 5 regions from January 2017 to March 2022. The distribution and correlation of abnormal foetal tissue karyotypes were evaluated by using regions and age.
RESULTS: In our study, 1140 couples (60.5% of the total) had abnormal foetal tissue chromosome karyotypes in all regions. We found that there were differences in the number of abnormal foetal tissue chromosome karyotypes, of which the incidence of trisomy was higher. At the same time, the populations situated in the eastern region had a more triploid (15.5%) distribution, trisomy (58.1%) in the southern region, mosaicism (14.8%) and microduplication (31.7%) in the southwestern region, microdeletion (16.7%) in the northern region. There are variances across areas, and it is more common in the north. The incidence risk of prenatal chromosomal abnormalities varied according to age group.
CONCLUSIONS: The findings of this study suggest that the karyotypes of patients with abnormal foetal tissue chromosome abortion in different regions were different. Meanwhile, patients ≥ 35 years old had a higher risk of abnormal foetal tissue chromosome abortion.
METHODS: A retrospective multicentre study collected age and foetal tissue karyotypes CNV-seq data of 1903 SA couples from 6 hospitals in 5 regions from January 2017 to March 2022. The distribution and correlation of abnormal foetal tissue karyotypes were evaluated by using regions and age.
RESULTS: In our study, 1140 couples (60.5% of the total) had abnormal foetal tissue chromosome karyotypes in all regions. We found that there were differences in the number of abnormal foetal tissue chromosome karyotypes, of which the incidence of trisomy was higher. At the same time, the populations situated in the eastern region had a more triploid (15.5%) distribution, trisomy (58.1%) in the southern region, mosaicism (14.8%) and microduplication (31.7%) in the southwestern region, microdeletion (16.7%) in the northern region. There are variances across areas, and it is more common in the north. The incidence risk of prenatal chromosomal abnormalities varied according to age group.
CONCLUSIONS: The findings of this study suggest that the karyotypes of patients with abnormal foetal tissue chromosome abortion in different regions were different. Meanwhile, patients ≥ 35 years old had a higher risk of abnormal foetal tissue chromosome abortion.
摘要：
背景：胎儿组织染色体核型异常是自然流产的重要致病因素之一。调查1903对经历SA的夫妇的年龄和胎儿核型异常。
方法：一项回顾性多中心研究收集了2017年1月至2022年3月来自5个地区6家医院的1903对SA夫妇的年龄和胎儿组织核型CNV-seq数据。使用区域和年龄评估异常胎儿组织核型的分布和相关性。
结果：在我们的研究中，1140对夫妇（占总数的60.5％）在所有区域均具有异常的胎儿组织染色体核型。我们发现异常胎儿组织染色体核型的数量存在差异，其中三体的发病率较高。同时,位于东部地区的种群具有更多的三倍体（15.5％）分布，南部地区三体(58.1%)，西南地区马赛克(14.8%)和微重复(31.7%)，北部地区微缺失(16.7%)。不同地区存在差异，在北方更常见。产前染色体异常的发生风险因年龄组而异。
结论：本研究结果表明不同地区胎儿组织染色体异常流产患者的核型不同。同时,≥35岁的患者胎儿组织染色体异常流产的风险较高.
方法：一项回顾性多中心研究收集了2017年1月至2022年3月来自5个地区6家医院的1903对SA夫妇的年龄和胎儿组织核型CNV-seq数据。使用区域和年龄评估异常胎儿组织核型的分布和相关性。
结果：在我们的研究中，1140对夫妇（占总数的60.5％）在所有区域均具有异常的胎儿组织染色体核型。我们发现异常胎儿组织染色体核型的数量存在差异，其中三体的发病率较高。同时,位于东部地区的种群具有更多的三倍体（15.5％）分布，南部地区三体(58.1%)，西南地区马赛克(14.8%)和微重复(31.7%)，北部地区微缺失(16.7%)。不同地区存在差异，在北方更常见。产前染色体异常的发生风险因年龄组而异。
结论：本研究结果表明不同地区胎儿组织染色体异常流产患者的核型不同。同时,≥35岁的患者胎儿组织染色体异常流产的风险较高.
