Clinical Outcomes of Preimplantation Genetic Testing in Patients with Autosomal Dominant Polycystic Kidney Disease Associated with Male Infertility

doi:10.12280/gjszjk.20230048

Abstract

Abstract:

Objective： To investigate the clinical outcomes of preimplantation genetic testing (PGT) in patients with autosomal dominant polycystic kidney disease (ADPKD) associated with male infertility. Methods： From March 2020 to December 2021, 7 patients with ADPKD associated with male infertility were conducted PGT treatment in the center for reproduction and genetics of the Affiliated Suzhou Hospital of Nanjing Medical University. Data on imaging, sperm quality, sperm ultrastructure, genetic etiology, and preimplantation genetic analysis were retrospectively analyzed. Results： All 7 patients showed different degrees of oligozoospermia, and the PKD1 gene heterozygous mutation. The majority of patients showed dilatation or cystic lesions of the reproductive tract, and the disturbed partially ultrastructure of sperm flagellum. Five clinical pregnancies and successful births were achieved after assisted reproduction in 7 patients. Conclusions： The results of genetic testing can guide the treatment in patients with ADPKD associated with male infertility, and PGT can improve pregnancy outcomes.

Key words: Polycystic kidney, autosomal dominant, Infertility, male, Preimplantation diagnosis, Genetic testing, Sperm morphology

WANG Jia-xiong, NI Meng-xia, WANG Wei-zhuo, TANG Zheng, SHEN Li-yan, FU Xu, YANG Shen-min, OU Jian. Clinical Outcomes of Preimplantation Genetic Testing in Patients with Autosomal Dominant Polycystic Kidney Disease Associated with Male Infertility[J]. Journal of International Reproductive Health/Family Planning, 2023, 42(3): 189-192.

Figures/Tables 4

References 14

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编号	基因检测结果
例1	PKD1c.10618+1G>A（杂合）
例2	PKD1c.11254C>T（杂合）
例3	PKD1c.11122del insCC（杂合）
例4	PKD1c.5096C>A（杂合）
例5	PKD1c.7210-2A>C（杂合）
例6	PKD1c.5799dupG（杂合）
例7	PKD1c.11881C>T（杂合）

编号	基因检测结果
例1	PKD1c.10618+1G>A（杂合）
例2	PKD1c.11254C>T（杂合）
例3	PKD1c.11122del insCC（杂合）
例4	PKD1c.5096C>A（杂合）
例5	PKD1c.7210-2A>C（杂合）
例6	PKD1c.5799dupG（杂合）
例7	PKD1c.11881C>T（杂合）

编号	获得成熟卵子数（个）	2原核受精胚胎数（个）	检测胚胎数（个）	可直接移植胚胎数（个）	需遗传咨询胚胎数（个）	不可移植胚胎数（个）
例1	26	16	4	0	1	3
例2	16	13	8	1	1	6
例3	20	16	8	3	2	3
例4	18	17	5	1	1	3
例5	10	7	4	1	1	2
例6	16	15	12	4	3	5
例7	2	1	1	1	0	0

编号	获得成熟卵子数（个）	2原核受精胚胎数（个）	检测胚胎数（个）	可直接移植胚胎数（个）	需遗传咨询胚胎数（个）	不可移植胚胎数（个）
例1	26	16	4	0	1	3
例2	16	13	8	1	1	6
例3	20	16	8	3	2	3
例4	18	17	5	1	1	3
例5	10	7	4	1	1	2
例6	16	15	12	4	3	5
例7	2	1	1	1	0	0

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