Noninvasive prenatal diagnosis of duchenne muscular dystrophy in five Chinese families based on relative mutation dosage approach

Table 2 The results of the five DMD families undergoing NIPD by cfBEST and invasive prenatal diagnosis

Family ID	Physical position (X chromosome, hg19)	DNA input (ng)	Mutation unique reads	Total unique reads	Mutation ratio (%)	Fetal DNA fraction (%)	Fetal gender	Fetal genotype
Family ID	Physical position (X chromosome, hg19)	DNA input (ng)	Mutation unique reads	Total unique reads	Mutation ratio (%)	Fetal DNA fraction (%)	Fetal gender	cfBEST	IPD^b
D1	32,361,292–32,361,293	17.97	154	380	40.53	13.06	Female	N/N^a	N/N
D2	32,662,349	28.10	1539	2941	52.30	11.70	Female	N/M^c	N/M
D3	32,583,882	18.38	1062	2089	50.80	14.70	Female	N/M	N/M
D4	32,519,947	26.48	0	3476	0.00	3.00	Male	N	N
D5	32,625,751, 32,635,984^d	34.78	346	695	49.78	10.20	Female	N/M	N/M

ISSN: 1755-8794