Table 1.
Patient | Age | Gestational age (week) | Single cells | Genotypes for | Father | Mother | Fetus (rare‐cell analysis) | AC/CVS/ postnatal testing |
---|---|---|---|---|---|---|---|---|
P1 | 29 | 22+1 | 5 | α‐globin | –SEA/ α α | –SEA/ α α | –SEA/ α α | –SEA/ α α |
P2 | 25 | 23+6 | 6 | β‐globin | normal | CDs41/42(‐TCTT) | normal | normal |
P4 | 31 | 4+4 | 6 | α‐globin | –SEA/ α α | α α/ α α | –SEA/ α α | –SEA/ α α |
P5 | 30 | 29+2 | 5 | α‐globin | –SEA/ α α | –SEA/ α α | –SEA/ –SEA | –SEA/ –SEA |
P18 | 19 | 13+6 | 5 | α‐globin | α α/ α α | –SEA/ α α | α α/ α α | normal |
P30 | 25 | 32+6 | 4 | α‐globin | –SEA/ α α | –SEA/ α α | –SEA/ –SEA | –SEA/ –SEA |
P50 | 17 | 10 | 4 | β‐globin | normal | CDs41/42(‐TCTT) | CDs41/42(‐TCTT) | CDs41/42(‐TCTT) |
P54 | 27 | 17+5 | 5 | β‐globin | IVS‐II‐654(C > T) | IVS‐II‐654(C > T) | normal | normal |
P58 | 27 | 17+2 | 4 | β‐globin | IVS‐II‐654(C > T) | −28(A > G) | −28(A > G) | −28(A > G) |
P59 | 29 | 32 | 4 | β‐globin | normal | IVS‐II‐654(C > T) | normal | normal |
P60 | 27 | 16 | 7 | α‐and β‐globin | –SEA/ α α, −28(A > G) | normal | −28(A > G) | −28(A > G) |