Chromosomal microarray analysis of embryos during early spontaneous abortion in a hospital in Yangzhou
10.3969/j.issn.1673-9701.2024.18.017
- VernacularTitle:扬州市某医院早期自然流产胚胎染色体微阵列分析
- Author:
Min ZHANG
1
;
Suwei HU
;
Anping SUN
;
Ming TONG
;
Qian LI
Author Information
1. 扬州大学医学院附属扬州妇幼保健院医学遗传中心,江苏扬州 225002
- Keywords:
Early abortion;
Chromosomal microarray analysis;
Numerical chromosomal abnormality;
Copy number variations
- From:
China Modern Doctor
2024;62(18):78-82
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the value of chromosomal microarray analysis(CMA)for the diagnosis of early spontaneous abortion,and to investigate the relationship between chromosomal abnormalities and early spontaneous abortion.Methods A total of 432 cases embryos were collected from June 2017 to December 2022 which occur early spontaneous abortion in Yangzhou Maternal and Child Health Hospital.We retrospectively analyze the results of chromosomal microarray analysis,and analyze the correlation between different gestational weeks and numerical chromosomal abnormalities and copy number variations.Results A total of 428 specimens were successfully analyzed by the CMA.Chromosomal abnormalities were identified in 270 specimens,including 212 cases of numerical chromosomal abnormalities,53 cases of copy number variations,and 5 cases of uniparental disomy.Most chromosomal abnormalities are trisomies,with 16-trisomy was the most common.Among the copy number variations,31 cases of pathogenic and likely pathogenic were detected,and 22 cases of clinically unknown copy number abnormalities were detected.There was no statistically significant difference in numerical chromosomal abnormalities among different gestational weeks(P>0.05),while the positive rate of copy number variations was highest at 10-11+6 weeks of pregnancy.Conclusion CMA can clarify the etiological diagnosis of early spontaneous abortion.It can not only detect chromosomal abnormalities,but also can detect copy number variations and even chromosome microdeletion syndrome,chromosome microduplication syndrome.In the study,numerical chromosomal abnormalities are the main cause of spontaneous abortion.
