Family | m.8993T→G mutant load (%) | Outcome | ||||||
---|---|---|---|---|---|---|---|---|
Mother | Fetus | |||||||
No | WBC | OMC | No | CVS | AS1 | AS2 | ||
AS, amniocyte sample; CVS, chorionic villous sample; OMC, oral mucosa cell DNA; T21, trisomy 21; TOP, termination of pregnancy; WBC, white blood cell DNA. | ||||||||
Chorionic villi were sampled at 10 week’s gestation and amniotic fluids at 14 (AS1) and 30 (AS2) week’s gestation, respectively. | ||||||||
1 | II1 | 0 | — | III1 | — | 0 | — | Healthy at 5 years |
III2 | — | 0 | — | Healthy at 3 years | ||||
III3 | — | 0 | — | Healthy at 8 months | ||||
II2 | 17 | — | III5 | — | — | 0 | Healthy at 2 years | |
2 | I1 | 0 | — | II2 | 0 | 0 | — | Healthy at 5 years |
II3 | — | 0 | — | TOP (T21) | ||||
3 | I1 | 30 | — | II3 | 100 | — | — | TOP |
4 | I1 | 55 | — | II3 | 64 | 65 | — | TOP, fetus 4 (19 weeks) |
5 | I1 | 65 | — | II3 | 13 | 10 | 10 | Healthy at 7 years |
6 | II6 | 75 | 77 | III1 | 30 | — | — | Healthy at 4 years |
III2 | 70 | 70 | — | TOP, fetus 1 (15 weeks) | ||||
II7 | 30 | 38 | III4 | — | 87 | — | TOP, fetus 2 (18 weeks) | |
III5 | — | 70 | — | TOP, fetus 3 (22 weeks) |