Preimplantation genetic testing for hereditary hearing loss in Chinese population

被引：3

作者：

Bi, Qingling ^{[1
,2
,3
]}

Huang, Shasha ^{[1
]}

Wang, Hui ^{[4
]}

Gao, Xue ^{[5
]}

Ma, Minyue ^{[4
]}

Han, Mingyu ^{[1
]}

Lu, Sijia ^{[6
]}

Kang, Dongyang ^{[1
]}

Nourbakhsh, Aida ^{[7
]}

Yan, Denise ^{[7
]}

Blanton, Susan ^{[7
]}

Liu, Xuezhong ^{[7
]}

Yuan, Yongyi ^{[1
]}

Yao, Yuanqing ^{[4
]}

Dai, Pu ^{[1
]}

机构：

[1] Minist Educ, Coll Otolaryngol Head & Neck Surg, Natl Clin Res Ctr Otolaryngol Dis, Chinese PLA Med Sch,Key Lab Hearing Impairment Sci, 28 Fuxing Rd, Beijing 100853, Peoples R China

[2] China Japan Friendship Hosp, Dept Otolaryngol Head, 2 Yinghua Rd, Beijing 100029, Peoples R China

[3] China Japan Friendship Hosp, Dept Neck Surg, 2 Yinghua Rd, Beijing 100029, Peoples R China

[4] Chinese Peoples Liberat Army Gen Hosp, Reprod Ctr, 28 Fuxing Rd, Beijing 100853, Peoples R China

[5] PLA Rocket Force Characterist Med Ctr, Dept Otolaryngol, 16 XinWai Da Jie, Beijing 100088, Peoples R China

[6] Yikon Genom, Dept Clin Res, 1698 Wangyuan Rd, Shanghai 201400, Peoples R China

[7] Univ Miami, Dept Otolaryngol, Miller Sch Med, Miami, FL 33136 USA

来源：

JOURNAL OF ASSISTED REPRODUCTION AND GENETICS | 2023年 / 40卷 / 07期

基金：

北京市自然科学基金; 中国国家自然科学基金;

关键词：

Hereditary hearing loss; PGT; Whole genome amplification; MALBAC; Genetic counseling; DIAGNOSIS; DEAFNESS; SINGLE;

D O I：

10.1007/s10815-023-02753-8

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

PurposeTo evaluate the clinical validity of preimplantation genetic testing (PGT) to prevent hereditary hearing loss (HL) in Chinese population.MethodsA PGT procedure combining multiple annealing and looping-based amplification cycles (MALBAC) and single-nucleotide polymorphisms (SNPs) linkage analyses with a single low-depth next-generation sequencing run was implemented. Forty-three couples carried pathogenic variants in autosomal recessive non-syndromic HL genes, GJB2 and SLC26A4, and four couples carried pathogenic variants in rare HL genes: KCNQ4, PTPN11, PAX3, and USH2A were enrolled.ResultsFifty-four in vitro fertilization (IVF) cycles were implemented, 340 blastocysts were cultured, and 303 (89.1%) of these received a definite diagnosis of a disease-causing variant testing, linkage analysis and chromosome screening. A clinical pregnancy of 38 implanted was achieved, and 34 babies were born with normal hearing. The live birth rate was 61.1%.Conclusions and relevanceIn both the HL population and in hearing individuals at risk of giving birth to offspring with HL in China, there is a practical need for PGT. The whole genome amplification combined with NGS can simplify the PGT process, and the efficiency of PGT process can be improved by establishing a universal SNP bank of common disease-causing gene in particular regions and nationalities. This PGT procedure was demonstrated to be effective and lead to satisfactory clinical outcomes.

引用

页码：1721 / 1732

页数：12