Family | Gene | FF (%) | No. of maternal informative SNPs | No. of paternal informative SNPs | Mat Hap | Pat Hap | \( {\mathbf{\mathsf{CS}}}_{\mathbf{\mathsf{mat}}} \) (%) | \( {\mathbf{\mathsf{CS}}}_{\mathbf{\mathsf{pat}}} \) (%) | NIPT (Mat/Pat) | Invasive prenatal diagnosis (Mat/Pat) | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|
For Mp | For Mn | For Pp | For Pn | |||||||||
52 fetuses received both allele genotypes | ||||||||||||
F01 | HBB | 11.5 | 70 | 0 | 54 | 0 | Mp | Pp | 100 | 100 | c.52A>T/c.126_129delCTTT | c.52A>T/c.126_129delCTTT |
F02 | HBB | 9.4 | 0 | 99 | 0 | 35 | Mn | Pn | 100 | 100 | N/N | N/N |
F03 | HBB | 16.0 | 0 | 45 | 28 | 13 | Mn | Pn | 100 | 100 | N/N | N/N |
F04 | HBB | 12.4 | 40 | 0 | 57 | 0 | Mp | Pp | 100 | 100 | c.126_129delCTTT/c.126_129delCTTT | c.126_129delCTTT/c.126_129delCTTT |
F05 | HBB | 10.2 | 0 | 66 | 53 | 0 | Mn | Pp | 100 | 100 | N/c.126_129delCTTT | N/c.126_129delCTTT |
F06 | HBB | 15.9 | 36 | 0 | 0 | 92 | Mp | Pn | 100 | 100 | c.126_129delCTTT/N | c.126_129delCTTT/N |
F07 | HBB | 12.8 | 0 | 110 | 19 | 0 | Mn | Pp | 100 | 100 | N/c.126_129delCTTT | N/c.126_129delCTTT |
F08 | HBB | 21.8 | 43 | 31 | 33 | 40 | Mp | Pn | 100 | 100 | c.126_129delCTTT/N | c.126_129delCTTT/N |
F09 | HBB | 15.4 | 12 | 0 | 0 | 64 | Mp | Pn | 100 | 100 | c.126_129delCTTT/N | c.126_129delCTTT/N |
F10 | HBB | 17.6 | 26 | 3 | 0 | 25 | Mp | Pn | 100 | 100 | c.126_129delCTTT/N | c.126_129delCTTT/N |
F11 | HBB | 15.5 | 0 | 28 | 23 | 47 | Mn | Pn | 100 | 100 | N/N | N/N |
F12 | HBB | 7.0 | 0 | 105 | 0 | 21 | Mn | Pn | 100 | 100 | N/N | N/N |
F13 | HBB | 10.2 | 0 | 161 | 16 | 0 | Mn | Pp | 100 | 100 | N/c.126_129delCTTT | N/c.126_129delCTTT |
F14 | HBB | 15.1 | 60 | 0 | 70 | 0 | Mp | Pp | 100 | 100 | c.126_129delCTTT/c.-78A>G | c.126_129delCTTT/c.-78A>G |
F15 | HBB | 16.0 | 167 | 8 | 0 | 25 | Mp | Pn | 100 | 100 | c.316-197C>T/N | c.316-197C>T/N |
F16 | HBB | 6.0 | 85 | 0 | 0 | 51 | Mp | Pn | 100 | 100 | c.316-197C>T/N | c.316-197C>T/N |
F17 | HBB | 22.0 | 96 | 0 | 11 | 31 | Mp | Pn | 100 | 100 | c.316-197C>T/N | c.316-197C>T/N |
F18 | HBB | 15.5 | 72 | 0 | 3 | 42 | Mp | Pn | 100 | 100 | c.-78A>G/N | c.-78A>G/N |
F19 | HBB | 16.0 | 8 | 102 | 0 | 37 | Mn | Pn | 100 | 100 | N/N | N/N |
F20 | HBB | 13.5 | 0 | 59 | 0 | 4 | Mn | Pn | 100 | 100 | N/N | N/N |
F21 | HBB | 14.7 | 0 | 67 | 0 | 66 | Mn | Pn | 100 | 100 | N/N | N/N |
F22 | HBB | 14.5 | 38 | 0 | 39 | 0 | Mp | Pp | 100 | 100 | c.52A>T/c.126_129delCTTT | c.52A>T/c.126_129delCTTT |
F24 | HBB | 11.7 | 0 | 34 | 0 | 32 | Mn | Pn | 100 | 100 | N/N | N/N |
F25 | HBB | 13.1 | 0 | 40 | 0 | 61 | Mn | Pn | 100 | 100 | N/N | N/N |
F26 | HBB | 16.3 | 85 | 0 | 28 | 0 | Mp | Pp | 100 | 100 | c.126_129delCTTT/c.-78A>G | c.126_129delCTTT/c.-78A>G |
F27 | HBA | 16.0 | 21 | 0 | 25 | 0 | Mp | Pp | 100 | 100 | - -SEA/- -SEA | - -SEA/- -SEA |
F28 | HBA | 7.0 | 51 | 0 | 21 | 0 | Mp | Pp | 100 | 100 | - -SEA/ααWS | - -SEA/ααWS |
F29 | HBA | 16.6 | 50 | 0 | 13 | 0 | Mp | Pp | 100 | 100 | - -SEA/- -SEA | - -SEA/- -SEA |
F30 | HBA | 14.5 | 0 | 64 | 0 | 34 | Mn | Pn | 100 | 100 | N/N | N/N |
F31 | HBA | 10.5 | 52 | 0 | 9 | 0 | Mp | Pp | 100 | 100 | - -SEA/- -SEA | - -SEA/- -SEA |
F32 | HBA | 16.1 | 0 | 38 | 39 | 0 | Mn | Pp | 100 | 100 | N/- -SEA | N/- -SEA |
F33 | HBA | 18.4 | 33 | 0 | 0 | 62 | Mp | Pn | 100 | 100 | - -SEA/N | - -SEA/N |
F34 | HBA | 16.5 | 0 | 20 | 13 | 0 | Mn | Pp | 100 | 100 | N/- -SEA | N/- -SEA |
F35 | HBA | 14.3 | 47 | 0 | 0 | 28 | Mp | Pn | 100 | 100 | - -SEA/N | - -SEA/N |
F36 | HBA | 20.6 | 49 | 0 | 0 | 17 | Mp | Pn | 100 | 100 | - -SEA/N | - -SEA/N |
F37 | HBA | 20.6 | 8 | 0 | 11 | 0 | Mp | Pp | 100 | 100 | - -SEA/- -SEA | - -SEA/- -SEA |
F38 | HBA | 15.3 | 0 | 51 | 0 | 9 | Mn | Pn | 100 | 100 | N/N | N/N |
F39 | HBA | 23.9 | 0 | 36 | 0 | 25 | Mn | Pn | 100 | 100 | N/N | N/N |
F40 | HBA | 18.3 | 47 | 0 | 0 | 7 | Mp | Pn | 100 | 100 | - -SEA/N | - -SEA/N |
F41 | HBA | 12.3 | 0 | 43 | 0 | 34 | Mn | Pn | 100 | 100 | N/N | N/N |
F42 | HBA | 17.3 | 0 | 33 | 31 | 0 | Mn | Pp | 100 | 100 | N/- -SEA | N/- -SEA |
F43 | HBA | 8.8 | 59 | 0 | 0 | 13 | Mp | Pn | 100 | 100 | - -SEA/N | - -SEA/N |
F44 | HBA | 26.1 | 31 | 0 | 42 | 0 | Mp | Pp | 100 | 100 | - -SEA/- -SEA | - -SEA/- -SEA |
F45 | HBA | 24.4 | 0 | 80 | 17 | 0 | Mn | Pp | 100 | 100 | N/- -SEA | N/- -SEA |
F46 | HBA | 22.4 | 29 | 0 | 0 | 19 | Mp | Pn | 100 | 100 | - -SEA/N | - -SEA/N |
F47 | HBA | 15.5 | 35 | 0 | 0 | 5 | Mp | Pn | 100 | 100 | - -SEA/N | - -SEA/N |
F48 | HBA | 11.8 | 0 | 32 | 0 | 54 | Mn | Pn | 100 | 100 | N/N | N/N |
F50 | HBA | 16.2 | 49 | 0 | 4 | 0 | Mp | Pp | 100 | 100 | - -SEA/- -SEA | - -SEA/- -SEA |
F51 | HBA | 13.7 | 40 | 0 | 0 | 35 | Mp | Pn | 100 | 100 | - -SEA/N | - -SEA/N |
F52 | HBA | 10.7 | 0 | 42 | 27 | 0 | Mn | Pp | 100 | 100 | N/ααCS | N/ααCS |
F54 | HBA | 12.8 | 0 | 44 | 42 | 0 | Mn | Pp | 100 | 100 | N/- -SEA | N/- -SEA |
F56 | HBA | 18.0 | 0 | 21 | 0 | 8 | Mn | Pn | 100 | 100 | N/N | N/N |
7 fetuses received only one allele genotype | ||||||||||||
F23 | HBB | 14.0 | 8 | 0 | 2 | 0 | Mp | NC [*] | 99 | 98 | c.316-197C>T/NC | c.316-197C>T/c.316-197C>T |
F49 | HBA | 13.6 | 0 | 1 | 3 | 0 | NC [*] | Pp | 83 | 100 | NC/- -SEA | - -SEA/- -SEA |
F53 | HBA | 21.9 | 0 | 1 | 0 | 35 | NC [*] | Pn | 89 | 100 | NC/N | N/N |
F55 | HBA | 9.0 | 33 | 0 | 0 | 1 | Mp [**] | NC [*] | 100 | 79 | - -SEA/NC | N/ααCS |
F57 | HBA | 21.4 | 37 | 0 | 0 | 0 | Mp | NC [*] | 100 | 0 | - -SEA/NC | - -SEA/N |
F58 | HBA | 22.9 | 61 | 0 | 0 | 0 | Mp | NC [*] | 100 | 0 | - -SEA/NC | - -SEA/- -SEA |
F59 | HBA | 14.4 | 13 | 0 | 1 | 0 | Mp | NC [*] | 100 | 93 | - -SEA/NC | - -SEA/- -SEA |