Open Access

Successful preimplantation genetic diagnosis by targeted next-generation sequencing on an ion torrent personal genome machine platform

  • Authors:
    • Yan Hao
    • Dawei Chen
    • Zhiguo Zhang
    • Ping Zhou
    • Yunxia Cao
    • Zhaolian Wei
    • Xiaofeng Xu
    • Beili Chen
    • Weiwei Zou
    • Mingrong Lv
    • Dongmei Ji
    • Xiaojin He
  • View Affiliations

  • Published online on: January 26, 2018     https://doi.org/10.3892/ol.2018.7876
  • Pages: 4296-4302
  • Copyright: © Hao et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Hearing loss may place a heavy burden on the patient and patient's family. Given the high incidence of hearing loss among newborns and the huge cost of treatment and care (including cochlear implantation), prenatal diagnosis is strongly recommended. Termination of the fetus may be considered as an extreme outcome to the discovery of a potential deaf fetus, and therefore preimplantation genetic diagnosis has become an important option for avoiding the birth of affected children without facing the risk of abortion following prenatal diagnosis. In one case, a couple had a 7‑year‑old daughter affected by non‑syndromic sensorineural hearing loss. The affected fetus carried a causative compound heterozygous mutation c.919‑2 A>G (IVS7‑2 A>G) and c.1707+5 G>A (IVS15+5 G>A) of the solute carrier family 26 member 4 gene inherited from maternal and paternal sides, respectively. The present study applied multiple displacement amplification for whole genome amplification of biopsied trophectoderm cells and next‑generation sequencing (NGS)‑based single nucleotide polymorphism haplotyping on an Ion Torrent Personal Genome Machine. One unaffected embryo was transferred in a frozen‑thawed embryo transfer cycle and the patient was impregnated. To conclude, to the best of our knowledge, this may be the first report of NGS‑based preimplantation genetic diagnosis (PGD) for non‑syndromic hearing loss caused by a compound heterozygous mutation using an Ion Torrent Personal Genome Machine. NGS provides unprecedented high‑throughput, highly parallel and base‑pair resolution data for genetic analysis. The method meets the requirements of medium‑sized diagnostics laboratories. With decreased costs compared with previous techniques (such as Sanger sequencing), this technique may have potential widespread clinical application in PGD of other types of monogenic disease.

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April 2018
Volume 15 Issue 4

Print ISSN: 1792-1074
Online ISSN:1792-1082

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APA
Hao, Y., Chen, D., Zhang, Z., Zhou, P., Cao, Y., Wei, Z. ... He, X. (2018). Successful preimplantation genetic diagnosis by targeted next-generation sequencing on an ion torrent personal genome machine platform. Oncology Letters, 15, 4296-4302. https://doi.org/10.3892/ol.2018.7876
MLA
Hao, Y., Chen, D., Zhang, Z., Zhou, P., Cao, Y., Wei, Z., Xu, X., Chen, B., Zou, W., Lv, M., Ji, D., He, X."Successful preimplantation genetic diagnosis by targeted next-generation sequencing on an ion torrent personal genome machine platform". Oncology Letters 15.4 (2018): 4296-4302.
Chicago
Hao, Y., Chen, D., Zhang, Z., Zhou, P., Cao, Y., Wei, Z., Xu, X., Chen, B., Zou, W., Lv, M., Ji, D., He, X."Successful preimplantation genetic diagnosis by targeted next-generation sequencing on an ion torrent personal genome machine platform". Oncology Letters 15, no. 4 (2018): 4296-4302. https://doi.org/10.3892/ol.2018.7876