Table 1 DMD mutation status of the study cohort.

From: Targeted linked-read sequencing for direct haplotype phasing of maternal DMD alleles: a practical and reliable method for noninvasive prenatal diagnosis

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

  1. aAll fetuses were male.