Analysis of non-targeted variants by invasive prenatal diagnosis for pregnant women undergoing preimplantation genetic testing
10.3760/cma.j.cn511374-20240320-00181
- VernacularTitle:胚胎植入前遗传学检测后孕妇的侵入性产前诊断非靶向变异分析
- Author:
Si LI
1
;
Ziyi XIAO
;
Chenyu GOU
;
Xiaolan LI
;
Yijuan HUANG
;
Yuanqiu CHEN
;
Shujing HE
;
Zhiqiang ZHANG
;
Zi REN
;
Song GUO
;
Weiying JIANG
;
Yu GAO
Author Information
1. 中山大学附属第六医院产前诊断中心，广州 510655
- Keywords:
Preimplantation genetic testing;
Next-generation sequencing;
Prenatal diagnosis
- From:
Chinese Journal of Medical Genetics
2024;41(11):1283-1289
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To compare the results of invasive prenatal diagnosis and preimplantation genetic testing (PGT) and explore the underlying mechanism.Methods:Clinical data of pregnant women undergoing PGT and invasive prenatal diagnosis at the Sixth Affiliated Hospital of Sun Yat-sen University from January 2019 to December 2022 were collected. The results of PGT and invasive prenatal diagnosis were compared, and the outcomes of pregnancies were followed up. This study has been approved by the Medical Ethics Committee of the the Sixth Affiliated Hospital of Sun Yat-sen University (No. 2022SLYEC-491).Results:A total of 172 couples were included in this study, and 26 non-targeted variants were discovered upon prenatal diagnosis, including 10 cases (38.5%) by chromosomal karyotyping, 15 (57.7%) by chromosomal microarray analysis (CMA), and 1 (3.8%) by whole exome sequencing. The 10 karyotypic anomalies had included 6 chromosomal polymorphisms, 2 chromosomal mosaicisms, 1 paternally derived translocation, and 1 missed maternal chromosomal inversion. CMA has identified 15 copy number variations (CNVs), which included 11 microdeletions and microduplications, 3 loss of heterozygosity, and 1 low-level mosaicism of paternal uniparental disomy. One CNV was classified as pathogenic, and another one was likely pathogenic, whilst the remaining 13 were classified as variants of uncertain significance. Therefore, 8.7% of CNVs was detected by invasive prenatal diagnosis after PGT. 92.3% (24/26) of the non-targeted variants have been due to technological limitations of next-generation sequencing (NGS).Conclusion:Invasive prenatal diagnosis after PGT can detect non-targeted variants, which may further reduce the incidence of birth defects.
