A case report of preimplantation genetic testing for assisted reproduction in a patient with PKD2 pathogenic mutation and Robertsonian translocation
10.3760/cma.j.cn101441-20250509-00223
- VernacularTitle:PKD2致病突变合并罗氏易位患者行胚胎植入前遗传学检测助孕的1例病案报道
- Author:
Fengji CUI
1
;
Yuhua JIANG
;
Peng YU
;
Bingcheng SUN
;
Chunying BAI
;
Haiyan XI
Author Information
1. 赤峰市妇产医院生殖医学中心，赤峰 024000
- Publication Type:Journal Article
- Keywords:
Reproductive techniques, assisted;
Autosomal dominant polycystic kidney disease;
Robertsonian translocation;
Preimplantation genetic testing
- From:
Chinese Journal of Reproduction and Contraception
2025;45(11):1163-1170
- CountryChina
- Language:Chinese
-
Abstract:
This article reports a successful case of preimplantation genetic testing (PGT) in a patient with autosomal dominant polycystic kidney disease type 2 (PKD2) combined with Robertsonian translocation. The patient carried a heterozygous frameshift mutation ( PKD2 c.428del, p.Gly143Alafs*90) and a Robertsonian translocation between chromosomes 14 and 15. Through combined PGT for monogenic disorders, structural rearrangements and aneuploidy screening, one euploid blastocyst free of the PKD2 mutation was selected from six embryos for transfer, resulting in the successful delivery of a healthy female infant. Follow-up until June 2025 confirmed normal developmental milestones. This case demonstrates that PGT can effectively mitigate dual genetic risks (monogenic disease and chromosomal abnormality), providing critical clinical insights for optimizing reproductive outcomes in patients with complex genetic backgrounds.
