PMID- 32010257 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20200928 IS - 1792-0981 (Print) IS - 1792-1015 (Electronic) IS - 1792-0981 (Linking) VI - 19 IP - 2 DP - 2020 Feb TI - Successful clinical application of pre-implantation genetic diagnosis for infantile neuroaxonal dystrophy. PG - 956-964 LID - 10.3892/etm.2019.8302 [doi] AB - 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. CI - Copyright: (c) Hao et al. FAU - Hao, Yan AU - Hao Y AD - Department of Obstetrics and Gynecology, Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Department of Biopreservation, Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, Anhui 230027, P.R. China. FAU - Chen, Dawei AU - Chen D AD - Department of Obstetrics and Gynecology, Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Department of Biopreservation, Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, Anhui 230027, P.R. China. FAU - Zhang, Guirong AU - Zhang G AD - Department of Genetics, Peking Medriv Academy of Genetics and Reproduction, Beijing 102629, P.R. China. FAU - Zhang, Zhiguo AU - Zhang Z AD - Department of Obstetrics and Gynecology, Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Department of Biopreservation, Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, Anhui 230027, P.R. China. FAU - Liu, Xiaojun AU - Liu X AD - Department of Genetics, Peking Medriv Academy of Genetics and Reproduction, Beijing 102629, P.R. China. FAU - Zhou, Ping AU - Zhou P AD - Department of Obstetrics and Gynecology, Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Department of Biopreservation, Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, Anhui 230027, P.R. China. FAU - Wei, Zhaolian AU - Wei Z AD - Department of Obstetrics and Gynecology, Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Department of Biopreservation, Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, Anhui 230027, P.R. China. FAU - Xu, Xiaofeng AU - Xu X AD - Department of Obstetrics and Gynecology, Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Department of Biopreservation, Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, Anhui 230027, P.R. China. FAU - He, Xiaojin AU - He X AD - Department of Obstetrics and Gynecology, Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Department of Biopreservation, Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, Anhui 230027, P.R. China. FAU - Xing, Lixian AU - Xing L AD - Department of Genetics, Peking Medriv Academy of Genetics and Reproduction, Beijing 102629, P.R. China. FAU - Lv, Mingrong AU - Lv M AD - Department of Obstetrics and Gynecology, Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Department of Biopreservation, Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, Anhui 230027, P.R. China. FAU - Ji, Dongmei AU - Ji D AD - Department of Obstetrics and Gynecology, Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Department of Biopreservation, Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, Anhui 230027, P.R. China. FAU - Chen, Beili AU - Chen B AD - Department of Obstetrics and Gynecology, Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Department of Biopreservation, Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, Anhui 230027, P.R. China. FAU - Zou, Weiwei AU - Zou W AD - Department of Obstetrics and Gynecology, Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Department of Biopreservation, Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, Anhui 230027, P.R. China. FAU - Wu, Huan AU - Wu H AD - Department of Obstetrics and Gynecology, Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Department of Biopreservation, Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, Anhui 230027, P.R. China. FAU - Liu, Yajing AU - Liu Y AD - Department of Obstetrics and Gynecology, Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Department of Biopreservation, Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, Anhui 230027, P.R. China. FAU - Cao, Yunxia AU - Cao Y AD - Department of Obstetrics and Gynecology, Reproductive Medicine Center, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, Anhui 230032, P.R. China. AD - Department of Biopreservation, Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, Anhui 230027, P.R. China. LA - eng PT - Journal Article DEP - 20191209 PL - Greece TA - Exp Ther Med JT - Experimental and therapeutic medicine JID - 101531947 PMC - PMC6966177 OTO - NOTNLM OT - aneuploidy OT - infantile neuroaxonal dystrophy OT - linkage analysis OT - next-generation sequencing OT - pre-implantation genetic diagnosis OT - single nucleotide polymorphism EDAT- 2020/02/06 06:00 MHDA- 2020/02/06 06:01 PMCR- 2019/12/09 CRDT- 2020/02/04 06:00 PHST- 2017/09/14 00:00 [received] PHST- 2019/07/30 00:00 [accepted] PHST- 2020/02/04 06:00 [entrez] PHST- 2020/02/06 06:00 [pubmed] PHST- 2020/02/06 06:01 [medline] PHST- 2019/12/09 00:00 [pmc-release] AID - ETM-0-0-8302 [pii] AID - 10.3892/etm.2019.8302 [doi] PST - ppublish SO - Exp Ther Med. 2020 Feb;19(2):956-964. doi: 10.3892/etm.2019.8302. Epub 2019 Dec 9.