Application of preimplantation genetic testing for monogenic disorders in families with hereditary epilepsy
10.19405/j.cnki.issn1000-1492.2025.09.021
- VernacularTitle:胚胎植入前单基因遗传学检测在遗传性癫痫家系中的应用
- Author:
Wenxiang Zhang
1
;
Dawei Chen
1
;
Tianjuan Wang
1
;
Yunxia Cao
1
Author Information
1. Dept of Obstetrics and Gynecology，The First Affiliated Hospital of Anhui Medical University，Hefei 230022
- Publication Type:Journal Article
- Keywords:
hereditary epilepsy;
whole-exome sequencing;
PCDH19 gene;
LGI1 gene;
preimplantation genetic testing for monogenic disorders;
pedigree study
- From:
Acta Universitatis Medicinalis Anhui
2025;60(9):1725-1729
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To evaluate the clinical efficacy of preimplantation genetic testing for monogenic disorders(PGT-M) in families with hereditary epilepsy.
Methods :Whole-exome sequencing(WES) and familial co-segregation analysis were performed to validate the pathogenicity of variants(PCDH19 c. 1031C > G and LGI1 c. 856T >G) in two monogenic epilepsy families. A clinical PGT-M pathway was implemented,and reproductive outcomes were tracked.
Results:In Family 1(PCDH19 likely pathogenic variant),13 blastocysts were biopsied over two ovarian stimulation cycles,yielding 3 unaffected euploid embryos(23. 1%). After the third frozen embryo transfer,a healthy male infant was successfully delivered. Prenatal diagnosis confirmed that the fetus did not carry the pathogenic variant PCDH19. Family 2(LGI1 variant of uncertain significance,VUS) screened 14 blastocysts,identifying 2 unaffected euploid embryos(14. 3%),with the first transfer unsuccessful. A clinical pregnancy was currently ongoing following the second frozen-thawed embryo transfer(FET).
Conclusion:PGT-M can precisely block the vertical transmission of monogenic epileptic pathogenic variants,offering an effective reproductive intervention strategy for families with hereditary epilepsy.
- Full text:2026032815170399256胚胎植入前单基因遗传学检测在遗传性癫痫家系中的应用_张文香.pdf
