Author:
Zhang Jian,Mu Fangxiang,Guo Zhongjie,Cai Zhuhua,Zeng Xianghui,Du Lirong,Wang Fang
Abstract
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.
Conclusion
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.
Funder
the Science Foundation of Lanzhou University
the Science Foundation of Lanzhou University Second Hospital
Publisher
Springer Science and Business Media LLC
Subject
Obstetrics and Gynecology
Reference51 articles.
1. Bender Atik R, Christiansen O B, Elson J, et al. ESHRE guideline: recurrent pregnancy loss. Hum Reprod Open. 2018;2:hoy004.
2. Coomarasamy A, Dhillon-Smith RK, Papadopoulou A, et al. Recurrent miscarriage: evidence to accelerate action. Lancet. 2021;397:1675–82.
3. Dong Z, Yan J, Xu F, et al. Genome sequencing explores complexity of chromosomal abnormalities in recurrent miscarriage. Am J Hum Genet. 2019;105:1102–11.
4. Ghazaey S, Keify F, Mirzaei F, et al. Chromosomal analysis of couples with repeated spontaneous abortions in northeastern iran. Int J Fertil Steril. 2015;9:47–54.
5. Nikitina TV, Sazhenova EA, Zhigalina DI, et al. Karyotype evaluation of repeated abortions in primary and secondary recurrent pregnancy loss. J Assist Reprod Genet. 2020;37:517–25.