Table 2 Prenatal diagnosis results of 12 FSHD families
FSHD family | Maternal age | Gestational age | Sample type | OGM FSHD pipeline | Labeled enzyme | ||
|---|---|---|---|---|---|---|---|
Calculate repeat count | Haplotype | Coverage | |||||
FSHD 1 | 31 | 11+ 2 | chorionic villus | 2 | 4qA | 14 | NLRS-Nb.BSSSI |
28 | 4qA | 13 | |||||
FSHD 2 | 30 | 13+ 5 | chorionic villus | 3 | 4qA | 77 | DLS-DLE |
11 | 4qB | 86 | |||||
FSHD 3 − 1 | 24 | 11+ 4 | chorionic villus | 4 | 4qA | 28 | DLS-DLE |
15 | 4qB | 35 | |||||
FSHD 3 − 2 | 28 | 12+ 5 | chorionic villus | 15 | 4qB | 65 | DLS-DLE |
30 | 4qB | 61 | |||||
FSHD 4 − 1 | 32 | 13+ 2 | chorionic villus | 3 | 4qA | 14 | NLRS-Nb.BSSSI |
22 | 4qB | 52 | |||||
FSHD 4 − 2 | 33 | 12+ 2 | chorionic villus | 13 | 4qA | 25 | NLRS-Nb.BSSSI |
23 | 4qB | 12 | |||||
FSHD 5 | 32 | 12+ 5 | chorionic villus | 31 | 4qA | 62 | DLS-DLE |
39 | 4qA | 41 | |||||
FSHD 6 | 27 | 17+ 4 | amniotic fluid | 18 | 4qB | 60 | DLS-DLE |
37 | 4qB | 35 | |||||
FSHD 7 | 22 | 11+ 6 | chorionic villus | 23 | 4qA | 15 | NLRS-Nb.BSSSI |
40 | 4qB | 10 | |||||
FSHD 8 | 30 | 16+ 1 | amniotic fluid | 35 | 4qB | 69 | DLS-DLE |
43 | 4qB | 29 | |||||
FSHD 9 | 33 | 12+ 4 | chorionic villus | 15 | 4qA | 30 | NLRS-Nb.BSSSI |
31 | 4qA | 12 | |||||
FSHD 10 | 36 | 12+ 5 | chorionic villus | 19 | 4qB | 78 | DLS-DLE |
38 | 4qB | 73 | |||||
FSHD 11 | 30 | 12+ 5 | chorionic villus | 17 | 4qA | 80 | DLS-DLE |
20 | 4qB | 84 | |||||
FSHD 12 | 27 | 11+ 3 | chorionic villus | 52 | 4qA | 25 | DLS-DLE |
20 | 4qB | 65 | |||||