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Preimplantation Genetic Diagnosis of Neurodegenerative Diseases: Review of Methodologies and Report of Our Experience as a Regional Reference Laboratory

1
Department of Pediatrics, National Taiwan University Children’s Hospital, Taipei 10041, Taiwan
2
Division of Pediatric Neurology, Department of Pediatrics, Changhua Christian Children’s Hospital, Changhua 50050, Taiwan
3
Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua 50046, Taiwan
4
Department of Genomic Science and Technology, Changhua Christian Hospital Healthcare System, Changhua Christian Hospital, Changhua 50046, Taiwan
5
Department of Medical Laboratory Science and Biotechnology, Central Taiwan University of Science and Technology, Taichung 40601, Taiwan
6
Department of Obstetrics and Gynecology, College of Medicine and Hospital, National Taiwan University, Taipei 10041, Taiwan
7
Graduate Institute of Medical Genomics and Proteomics, College of Medicine, National Taiwan University, Taipei 10051, Taiwan
8
Department of Neurology, Taipei Veterans General Hospital, Taipei 11217, Taiwan
9
Department of Neurology, National Taiwan University Hospital, Taipei 10048, Taiwan
10
Department of Life Science, Tunghai University, Taichung 40704, Taiwan
11
Department of Molecular Biotechnology, Da-Yeh University, Changhua 51591, Taiwan
12
Department of Anatomy and Cell Biology, College of Medicine, National Taiwan University, Taipei 10051, Taiwan
13
Graduate Institute of Brain and Mind Sciences, College of Medicine, National Taiwan University, Taipei 10051, Taiwan
*
Authors to whom correspondence should be addressed.
These authors contributed equally to this study.
Diagnostics 2019, 9(2), 44; https://doi.org/10.3390/diagnostics9020044
Received: 1 March 2019 / Revised: 2 April 2019 / Accepted: 9 April 2019 / Published: 23 April 2019
(This article belongs to the Section Pathology and Molecular Diagnostics)
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Abstract

Preimplantation genetic diagnosis (PGD) has become a crucial approach in helping carriers of inherited disorders to give birth to healthy offspring. In this study, we review PGD methodologies and explore the use of amplification refractory mutation system quantitative polymerase chain reaction (ARMS-qPCR) and/or linkage analysis for PGD in neurodegenerative diseases that are clinically relevant with typical features, such as late onset, and which are severely debilitating. A total of 13 oocyte retrieval cycles were conducted in 10 cases with various neurodegenerative diseases. Among the 59 embryos analyzed, 49.2% (29/59) were unaffected and 50.8% (30/59) were affected. Of the 12 embryo transfer cycles, three resulted in pregnancy, and all pregnancies were delivered. The implantation rate and livebirth rate were 23.1% (3/13) per oocyte retrieval cycle and 25.0% (3/12) per embryo transfer cycle. Allele dropout (ADO) was noted in two embryos that were classified as unaffected by ARMS-qPCR but were evidenced as affected after prenatal diagnosis, rendering the false negative rate as 6.3% (2/32). Four among the 13 cycles underwent PGD by ARMS-qPCR coupled with linkage analysis, and all were correctly diagnosed. We conclude that PGD by ARMS-qPCR and/or linkage analysis is a feasible strategy, whereas ADO is a concern when ARMS-qPCR is used as the sole technology in PGD, especially in autosomal dominant diseases. View Full-Text
Keywords: PGD; ARMS-qPCR; FAP; spinocerebellar ataxia; Huntington’s disease; linkage marker PGD; ARMS-qPCR; FAP; spinocerebellar ataxia; Huntington’s disease; linkage marker
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).
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Liao, C.-H.; Chang, M.-Y.; Ma, G.-C.; Chang, S.-P.; Lin, C.-F.; Lin, W.-H.; Chen, H.-F.; Chen, S.-U.; Lee, Y.-C.; Chao, C.-C.; Chen, M.; Hsieh, S.-T. Preimplantation Genetic Diagnosis of Neurodegenerative Diseases: Review of Methodologies and Report of Our Experience as a Regional Reference Laboratory. Diagnostics 2019, 9, 44.

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