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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Bibliographic Details
Published in:Experimental and therapeutic medicine 2020-02, Vol.19 (2), p.956-964
Main Authors: 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
Format: Article
Language:English
Subjects:
Age
Amniocentesis
Biopsy
Chromosomes
Cognition
Diseases
Embryo
Fetuses
Genes
Genetic polymorphisms
Genetic research
Genomes
Haplotypes
Hospitals
Medical diagnosis
Mutation
Nervous system diseases
Phospholipases
Pregnancy
Pregnant women
Reproductive health
Scientific equipment industry
Single nucleotide polymorphisms
Sperm
Ultrasonic imaging
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Summary: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.
ISSN:1792-0981
1792-1015
DOI:10.3892/etm.2019.8302