Table 1 DMD mutation status of the study cohort.
Study Number | Genotype of Mother | Predicted Genotype of Fetusa | Gestational Age | Fetal DNA Concentration (%) |
---|---|---|---|---|
DMD-01 | Exons 49–52 deletion/Normal | Normal | 6 weeks 5 days, 17 weeks 1 day | 5.66, 7.74 |
DMD-02 | Exon 2 duplication/Normal | Exon 2 duplication | 9 weeks 3 days, 12 weeks 1 day | 9.25, 6.85 |
DMD-03 | Exons 3–7 deletion/Normal | Exons 3–7 deletion | 8 weeks 5 days, 11 weeks 3 days | 6.34, 8.80 |
DMD-04 | c.649 + 2 T > C/Normal | c.649 + 2 T > C | 7 weeks 1 day | 6.24 |
DMD-05 | Exons 52–62 deletion/Normal | Exons 52–62 deletion | 8 weeks 2 days, 12 weeks | 4.10, 5.07 |