Table 3 Determination of fetal sex, fetal DNA fraction, and fetal haplotype in each family.
Plasma sample | Fetal sex | Fetal DNA fraction | Paternal informative SNP | Maternal informative SNP | P-Hap | M-Hap | Fetal genotype | Fetal status |
|---|---|---|---|---|---|---|---|---|
F-01 | F | 11.08% | 769 | 866 | F0 | M1 | Del/WT | carrier |
F-02-F | F | 6.88% | 830 | 534 | P0 | M0 | IVS2-13A/C > G/Del | affected |
F-02-S | F | 9.49% | 831 | 534 | P0 | M1 | Del/WT | carrier |
F-03 | F | 5.50% | 675 | 818 | P0 | M1 | IVS2-13A/C > G/WT | carrier |
F-04 8wk | F | 7.82% | 648 | 1330 | P0 | M0 | p.Ile172Asn/Chimera | affected |
F-04 18wk | F | 8.15% | 649 | 1330 | P0 | M0 | p.Ile172Asn/Chimera | affected |
F-05 | M | 8.41% | 545 | 620 | P0 | M0 | IVS2-13A/C > G + promoter conversion/Del | affected |
F-06 | M | 14.28% | 800 | 1024 | P0 | M1 | Del/WT | carrier |
F-07 | F | 9.28% | 477 | 640 | P0 | M1 | Del/WT | carrier |
F-08 | F | 5.84% | 524 | 841 | P1 | M0 | p.Ile172Asn/WT | carrier |
F-09 | M | 12.00% | 583 | 806 | P0 | M0 | IVS2-13A/C > G/p. [Ile172Asn; Arg356Trp] | affected |
F-10 | M | 13.18% | 620 | 829 | P1 | M0 | Del/WT | carrier |
F-11 | M | 15.54% | 814 | 715 | P0 | M0 | p.[Gln318X; Arg356Trp]/Chimera | affected |
F-12 | F | 8.61% | 393 | 711 | P0 | M0 | IVS2-13A/C > G/Partial conv | affected |
