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

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 pre...

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Autores principales: Hao, Yan, Chen, Dawei, Zhang, Guirong, Zhang, Zhiguo, Liu, Xiaojun, Zhou, Ping, Wei, Zhaolian, Xu, Xiaofeng, He, Xiaojin, Xing, Lixian, Lv, Mingrong, Ji, Dongmei, Chen, Beili, Zou, Weiwei, Wu, Huan, Liu, Yajing, Cao, Yunxia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6966177/
https://www.ncbi.nlm.nih.gov/pubmed/32010257
http://dx.doi.org/10.3892/etm.2019.8302
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author Hao, Yan
Chen, Dawei
Zhang, Guirong
Zhang, Zhiguo
Liu, Xiaojun
Zhou, Ping
Wei, Zhaolian
Xu, Xiaofeng
He, Xiaojin
Xing, Lixian
Lv, Mingrong
Ji, Dongmei
Chen, Beili
Zou, Weiwei
Wu, Huan
Liu, Yajing
Cao, Yunxia
author_facet Hao, Yan
Chen, Dawei
Zhang, Guirong
Zhang, Zhiguo
Liu, Xiaojun
Zhou, Ping
Wei, Zhaolian
Xu, Xiaofeng
He, Xiaojin
Xing, Lixian
Lv, Mingrong
Ji, Dongmei
Chen, Beili
Zou, Weiwei
Wu, Huan
Liu, Yajing
Cao, Yunxia
author_sort Hao, Yan
collection PubMed
description 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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spelling pubmed-69661772020-01-31 Successful clinical application of pre-implantation genetic diagnosis for infantile neuroaxonal dystrophy Hao, Yan Chen, Dawei Zhang, Guirong Zhang, Zhiguo Liu, Xiaojun Zhou, Ping Wei, Zhaolian Xu, Xiaofeng He, Xiaojin Xing, Lixian Lv, Mingrong Ji, Dongmei Chen, Beili Zou, Weiwei Wu, Huan Liu, Yajing Cao, Yunxia Exp Ther Med Articles 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. D.A. Spandidos 2020-02 2019-12-09 /pmc/articles/PMC6966177/ /pubmed/32010257 http://dx.doi.org/10.3892/etm.2019.8302 Text en Copyright: © Hao et al. This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License (https://creativecommons.org/licenses/by-nc-nd/4.0/) , which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Articles
Hao, Yan
Chen, Dawei
Zhang, Guirong
Zhang, Zhiguo
Liu, Xiaojun
Zhou, Ping
Wei, Zhaolian
Xu, Xiaofeng
He, Xiaojin
Xing, Lixian
Lv, Mingrong
Ji, Dongmei
Chen, Beili
Zou, Weiwei
Wu, Huan
Liu, Yajing
Cao, Yunxia
Successful clinical application of pre-implantation genetic diagnosis for infantile neuroaxonal dystrophy
title Successful clinical application of pre-implantation genetic diagnosis for infantile neuroaxonal dystrophy
title_full Successful clinical application of pre-implantation genetic diagnosis for infantile neuroaxonal dystrophy
title_fullStr Successful clinical application of pre-implantation genetic diagnosis for infantile neuroaxonal dystrophy
title_full_unstemmed Successful clinical application of pre-implantation genetic diagnosis for infantile neuroaxonal dystrophy
title_short Successful clinical application of pre-implantation genetic diagnosis for infantile neuroaxonal dystrophy
title_sort successful clinical application of pre-implantation genetic diagnosis for infantile neuroaxonal dystrophy
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6966177/
https://www.ncbi.nlm.nih.gov/pubmed/32010257
http://dx.doi.org/10.3892/etm.2019.8302
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