Inheritance of paternal allele and prediction of fetal genotype. Paternal mutant allele was present in samples 1, 3 and 8.
| No | Parental genotype | Presence of paternally-inherited mutant allele | Fetal genotype prediction | CV genotype |
|---|---|---|---|---|
| 1 | β/CD41/42 | Yes | Carrier or major | CD41/42/CD41/42 (major) |
| 2 | β/CD41/42 | No | Normal or carrier | β/CD41/42 (carrier) |
| 3 | β/CD41/42 | Yes | Carrier or major | CD41/42/CD41/42 (major) |
| 4 | β/IVS1-5 | No | Normal or carrier | β/IVS1-5 (carrier) |
| 5 | β/IVS1-5 | No | Normal or carrier | β/IVS1-5 (carrier) |
| 6 | β/IVS1-5 | No | Normal or carrier | β/β (normal) |
| 7 | β/IVS2-654 | No | Normal or carrier | β/β (normal) |
| 8 | β/IVS2-654 | Yes | Carrier or major | β/IVS2-654 (carrier) |
Paternal mutant allele was absent in the remaining samples. Thus, the fetus is expected to be normal or heterozygous β-globin gene mutation at CD41/42 and thus CVS is not necessary.
The fetus is expected to be heterozygous or homozygous for β-globin gene mutation at CD41/42 and thus CVS is required.
CV, chorionic villi.