Open Access

Successful clinical application of pre‑implantation genetic diagnosis for infantile neuroaxonal dystrophy

  • Authors:
    • Yan Hao
    • Dawei Chen
    • Guirong Zhang
    • Zhiguo Zhang
    • Xiaojun Liu
    • Ping Zhou
    • Zhaolian Wei
    • Xiaofeng Xu
    • Xiaojin He
    • Lixian Xing
    • Mingrong Lv
    • Dongmei Ji
    • Beili Chen
    • Weiwei Zou
    • Huan Wu
    • Yajing Liu
    • Yunxia Cao
  • View Affiliations

  • Published online on: December 9, 2019     https://doi.org/10.3892/etm.2019.8302
  • Pages: 956-964
  • Copyright: © Hao et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Infantile neuroaxonal dystrophy (INAD) is a rare, lethal, autosomal recessive neurodegenerative disease and leads to progressive impairment of movement and cognition. A couple with a proband child with calcium‑independent group VI phospholipase A2 (PLA2G6)‑associated INAD and a previous affected pregnancy sought pre‑implantation genetic diagnosis (PGD) to bear a healthy child. Intracytoplasmic sperm injection treatment was performed and 15 blastocystic embryos were obtained at days 5 and 6, and these biopsies were amplified. PGD was performed by next‑generation sequencing‑based linkage analysis in conjunction with aneuploidy screening. Only two embryos were considered for transfer. In the second frozen‑thawed embryo transfer cycle, transfer of a mosaic PLA2G6 c.692G>T heterozygous embryo resulted in a singleton ongoing pregnancy. Prenatal diagnosis was performed using amniotic fluid cells, providing results consistent with those of PGD. The aneuploidy screen and karyotype analysis indicated that the chromosomes of the fetus were normal without any mosaicism. The present study reported the first successful PGD for INAD. For parents at risk, this strategy may successfully lead to pregnancies with embryos unlikely to develop INAD, thus providing valuable experience in reproductive management regarding INAD and potentially other single‑gene disorders.
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February-2020
Volume 19 Issue 2

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Hao Y, Chen D, Zhang G, Zhang Z, Liu X, Zhou P, Wei Z, Xu X, He X, Xing L, Xing L, et al: Successful clinical application of pre‑implantation genetic diagnosis for infantile neuroaxonal dystrophy. Exp Ther Med 19: 956-964, 2020.
APA
Hao, Y., Chen, D., Zhang, G., Zhang, Z., Liu, X., Zhou, P. ... Cao, Y. (2020). Successful clinical application of pre‑implantation genetic diagnosis for infantile neuroaxonal dystrophy. Experimental and Therapeutic Medicine, 19, 956-964. https://doi.org/10.3892/etm.2019.8302
MLA
Hao, Y., Chen, D., Zhang, G., Zhang, Z., Liu, X., Zhou, P., Wei, Z., Xu, X., He, X., Xing, L., Lv, M., Ji, D., Chen, B., Zou, W., Wu, H., Liu, Y., Cao, Y."Successful clinical application of pre‑implantation genetic diagnosis for infantile neuroaxonal dystrophy". Experimental and Therapeutic Medicine 19.2 (2020): 956-964.
Chicago
Hao, Y., Chen, D., Zhang, G., Zhang, Z., Liu, X., Zhou, P., Wei, Z., Xu, X., He, X., Xing, L., Lv, M., Ji, D., Chen, B., Zou, W., Wu, H., Liu, Y., Cao, Y."Successful clinical application of pre‑implantation genetic diagnosis for infantile neuroaxonal dystrophy". Experimental and Therapeutic Medicine 19, no. 2 (2020): 956-964. https://doi.org/10.3892/etm.2019.8302