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Abstract
Prenatal diagnoses of mitochondrial diseases caused by defects in nuclear DNA (nDNA) or mitochondrial DNA have been reported in several countries except for Japan. The present study aimed to clarify the status of prenatal genetic diagnosis of mitochondrial diseases caused by nDNA defects in Japan. A comprehensive genomic analysis was performed to diagnose more than 400 patients, of which, 13 families (16 cases) had requested prenatal diagnoses. Eight cases diagnosed with wild type homozygous or heterozygous variants same as either of the heterozygous parents continued the pregnancy and delivered healthy babies. Another eight cases were diagnosed with homozygous, compound heterozygous, or hemizygous variants same as the proband. Of these, seven families chose to terminate the pregnancy, while one decided to continue the pregnancy. Neonatal- or infantile-onset mitochondrial diseases show severe phenotypes and lead to lethality. Therefore, such diseases could be candidates for prenatal diagnosis with careful genetic counseling, and prenatal testing could be a viable option for families.
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1 Chiba Children’s Hospital, Center for Medical Genetics, Chiba, Japan (GRID:grid.411321.4) (ISNI:0000 0004 0632 2959); Kyoto University School of Public Health, Department of Medical Genetics/Medical Ethics, Kyoto, Japan (GRID:grid.258799.8) (ISNI:0000 0004 0372 2033)
2 Chiba Children’s Hospital, Department of Metabolism, Chiba, Japan (GRID:grid.411321.4) (ISNI:0000 0004 0632 2959)
3 Saitama Medical University, Department of Pediatrics, Faculty of Medicine, Saitama, Japan (GRID:grid.410802.f) (ISNI:0000 0001 2216 2631)
4 Saitama Medical University, Department of Pediatrics, Faculty of Medicine, Saitama, Japan (GRID:grid.410802.f) (ISNI:0000 0001 2216 2631); Saitama Medical University, Department of Clinical Genomics, Faculty of Medicine, Saitama, Japan (GRID:grid.410802.f) (ISNI:0000 0001 2216 2631)
5 Chiba Children’s Hospital, Department of Neonatology, Chiba, Japan (GRID:grid.411321.4) (ISNI:0000 0004 0632 2959)
6 Saitama Medical University, Department of Clinical Genomics, Faculty of Medicine, Saitama, Japan (GRID:grid.410802.f) (ISNI:0000 0001 2216 2631); Saitama Medical University Hospital, Center for Intractable Diseases, Saitama, Japan (GRID:grid.430047.4) (ISNI:0000 0004 0640 5017)
7 Juntendo University, Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Tokyo, Japan (GRID:grid.258269.2) (ISNI:0000 0004 1762 2738)
8 Juntendo University, Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Tokyo, Japan (GRID:grid.258269.2) (ISNI:0000 0004 1762 2738); Kindai University, Department of Life Science, Faculty of Science and Engineering, Osaka, Japan (GRID:grid.258622.9) (ISNI:0000 0004 1936 9967)
9 Saitama Medical University, Department of Clinical Genomics, Faculty of Medicine, Saitama, Japan (GRID:grid.410802.f) (ISNI:0000 0001 2216 2631); Saitama Medical University Hospital, Center for Intractable Diseases, Saitama, Japan (GRID:grid.430047.4) (ISNI:0000 0004 0640 5017); Saitama Medical University Hospital, Department of Obstetrics and Gynecology, Saitama, Japan (GRID:grid.430047.4) (ISNI:0000 0004 0640 5017)
10 Saitama Medical University Hospital, Department of Obstetrics and Gynecology, Saitama, Japan (GRID:grid.430047.4) (ISNI:0000 0004 0640 5017)
11 Kyoto University School of Public Health, Department of Medical Genetics/Medical Ethics, Kyoto, Japan (GRID:grid.258799.8) (ISNI:0000 0004 0372 2033)
12 Saitama Medical University, Department of Pediatrics, Faculty of Medicine, Saitama, Japan (GRID:grid.410802.f) (ISNI:0000 0001 2216 2631); Saitama Medical University, Department of Clinical Genomics, Faculty of Medicine, Saitama, Japan (GRID:grid.410802.f) (ISNI:0000 0001 2216 2631); Saitama Medical University Hospital, Center for Intractable Diseases, Saitama, Japan (GRID:grid.430047.4) (ISNI:0000 0004 0640 5017)
13 Chiba Children’s Hospital, Center for Medical Genetics, Chiba, Japan (GRID:grid.411321.4) (ISNI:0000 0004 0632 2959); Chiba Children’s Hospital, Department of Metabolism, Chiba, Japan (GRID:grid.411321.4) (ISNI:0000 0004 0632 2959); Juntendo University, Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Tokyo, Japan (GRID:grid.258269.2) (ISNI:0000 0004 1762 2738)