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. 2023 Jul;40(7):1721-1732.
doi: 10.1007/s10815-023-02753-8. Epub 2023 Apr 5.

Preimplantation genetic testing for hereditary hearing loss in Chinese population

Qingling Bi #  1   2 , Shasha Huang #  1 , Hui Wang #  3 , Xue Gao  4 , Minyue Ma  3 , Mingyu Han  1 , Sijia Lu  5 , Dongyang Kang  1 , Aida Nourbakhsh  6 , Denise Yan  6 , Susan Blanton  6 , Xuezhong Liu  6 , Yongyi Yuan  7 , Yuanqing Yao  8 , Pu Dai  9
Affiliations

Preimplantation genetic testing for hereditary hearing loss in Chinese population

Qingling Bi et al. J Assist Reprod Genet. 2023 Jul.

Erratum in

Abstract

Purpose: To evaluate the clinical validity of preimplantation genetic testing (PGT) to prevent hereditary hearing loss (HL) in Chinese population.

Methods: A 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.

Results: Fifty-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 relevance: In 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.

Keywords: Genetic counseling; Hereditary hearing loss; MALBAC; PGT; Whole genome amplification.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
PGT clinical procedure and testing workflow. Trophectoderm cell lysis and WGA were performed using a MALBAC single-cell WGA kit. Enrichment PCR amplification of the WGA products was conducted using SNPs- and variant-specific primers. The PCR products were then sequenced by NGS; linkage analysis, chromosome aneuploidy analysis, and variant diagnosis were carried out simultaneously
Fig. 2
Fig. 2
Preimplantation genetic testing for aneuploidy (PGT-A) result samples: A Chromosome euploid; B trisomy 16; C del1q21.1qter mosaicism; D multi-chromosome abnormality; E contamination
Fig. 3
Fig. 3
Pedigree chart of the four families carried rare HL gene variants
See this image and copyright information in PMC

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