Table 1

 Prenatal analysis of m.8993T→G

Familym.8993T→G mutant load (%)Outcome
MotherFetus
NoWBCOMCNoCVSAS1AS2
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.
1II10III10Healthy at 5 years
III20Healthy at 3 years
III30Healthy at 8 months
II217III50Healthy at 2 years
2I10II200Healthy at 5 years
II30TOP (T21)
3I130II3100TOP
4I155II36465TOP, fetus 4 (19 weeks)
5I165II3131010Healthy at 7 years
6II67577III130Healthy at 4 years
III27070TOP, fetus 1 (15 weeks)
II73038III487TOP, fetus 2 (18 weeks)
III570TOP, fetus 3 (22 weeks)