Table 1.
Clinical information of recruited families.
| Family | Diseases | Gene | Pattern of inheritance | Location of gene | Maternal genotype | Paternal genotype | Gestation age | Fetal DNA concentration (%) |
|---|---|---|---|---|---|---|---|---|
| A | DM1 | DMPK | AD | chr19 | CTG repeat size, 13/79 | CTG repeat size, 5/11 | 11 + 5 | 12.6 |
| B | Lipoid CAH | STAR | AR | chr8 | c.772C>T | c.772C>T | 12 + 4 | 16.3 |
| C | FCMD | FKTN | AR | chr9 | c.165+835T>G | c.647+2084G>T | 11 + 0 | 12.4 |
DM1 Myotonic dystrophy type 1, Lipoid CAH lipoid congenital adrenal hyperplasia, FCMD Fukuyama congenital muscular dystrophy, AD autosomal dominant, AR autosomal recessive.