A comprehensive PGT-M strategy for ADPKD patients with de novo PKD1 mutations using affected embryo or gametes as proband
- Resource Type
- Authors
- Ping Liu; Jie Qiao; Shuo Guan; Liying Yan; Jin Huang; Xu Zhi; Xiaohui Zhu; Rong Li; Zhiqiang Yan; Ying Kuo; Nan Wang; Fan Zhai; Jialin Jia; Ying Lian; Yuqian Wang
- Source
- J Assist Reprod Genet
- Subject
- Adult
Male
0301 basic medicine
Proband
TRPP Cation Channels
Genetic Linkage
Autosomal dominant polycystic kidney disease
Fertilization in Vitro
Bioinformatics
Young Adult
03 medical and health sciences
0302 clinical medicine
Pregnancy
Genetic linkage
Genetics
medicine
Humans
Genetic Testing
Family history
Preimplantation Diagnosis
Genetics (clinical)
Genetic testing
030219 obstetrics & reproductive medicine
PKD1
medicine.diagnostic_test
business.industry
High-Throughput Nucleotide Sequencing
Obstetrics and Gynecology
General Medicine
Aneuploidy
Embryo Transfer
Embryo, Mammalian
Polycystic Kidney, Autosomal Dominant
medicine.disease
Germ Cells
030104 developmental biology
Reproductive Medicine
Mutation
Amniocentesis
Female
business
Live Birth
Developmental Biology
Kidney disease
- Language
- ISSN
- 1573-7330
1058-0468
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease characterized by the development of renal cysts and progression to renal failure. Preimplantation genetic testing-monogenic disease (PGT-M) is an alternative option to obtain healthy babies. However, de novo PKD1 mutation of one of the spouses or the absence of a positive family history poses a serious challenge to PGT-M. Here, we described a comprehensive strategy which includes preimplantation genetic testing for aneuploidies (PGT-A) study and monogenic diagnosis study for ADPKD patients bearing de novo mutations. The innovation of our strategy is to use the gamete (polar body or single sperm) as proband for single-nucleotide polymorphism (SNP) linkage analysis to detect an embryo’s carrier status. Nine ADPKD couples with either de novo mutation or without a positive family history were recruited and a total of 34 embryos from 13 PGT-M cycles were examined. Within these nine couples, two successfully delivered healthy babies had their genetic status confirmed by amniocentesis. This study provides a creative approach for embryo diagnosis of patients with de novo mutations or patients who lack essential family members for linkage analysis. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10815-021-02188-z.