Table 2.

Clinical information and dHapSeq data of the α-thalassemia families.

FamilyFetal sexGestational ageFetal DNA fraction (%)GenotypeNumber of SNPs in the haplotype block adjacent to the SEA deletion determined by dHapSeqSNPs used in NIPT
FatherMotherFetusFatherMotherOverlappedaPaternal informativebMaternal informativec
α-thal F1M14wk 3d9.3αα/--SEAαα/--SEA--SEA/--SEA9761611515
α-thal F2F12wk 3d13.2αα/αααα/--SEAαα/--SEA8261610d13
α-thal F3F18wk 2d7.7αα/--SEAαα/--SEA--SEA/--SEA8761611116
α-thal F4M17wk 1d7.1αα/--SEAαα/--SEAαα/--SEA9765651631
FamilyFetal sexGestational ageFetal DNA fraction (%)GenotypeNumber of SNPs in the haplotype block adjacent to the SEA deletion determined by dHapSeqSNPs used in NIPT
FatherMotherFetusFatherMotherOverlappedaPaternal informativebMaternal informativec
α-thal F1M14wk 3d9.3αα/--SEAαα/--SEA--SEA/--SEA9761611515
α-thal F2F12wk 3d13.2αα/αααα/--SEAαα/--SEA8261610d13
α-thal F3F18wk 2d7.7αα/--SEAαα/--SEA--SEA/--SEA8761611116
α-thal F4M17wk 1d7.1αα/--SEAαα/--SEAαα/--SEA9765651631

--SEA, Southeast Asian deletion.

aThis column displays the number of SNPs that overlap between the father and mother's haplotype blocks. These SNPs were used further in analyses to determine paternal and maternal inheritance.

bParental informative SNPs are those that are heterozygous in the father and homozygous in the mother. These SNPs were used to determine the fetal inheritance of the paternal variant.

cMaternal informative SNPs are those that are heterozygous in the mother regardless of whether the SNP is homozygous or heterozygous in the father. These SNPs were used to determine the fetal inheritance of the maternal variant.

dIn the family α-thal F2, the father was homozygous wild-type (αα/αα). The paternal inheritance was not tested since the fetus would certainly inherit a wild-type allele from its father.

Table 2.

Clinical information and dHapSeq data of the α-thalassemia families.

FamilyFetal sexGestational ageFetal DNA fraction (%)GenotypeNumber of SNPs in the haplotype block adjacent to the SEA deletion determined by dHapSeqSNPs used in NIPT
FatherMotherFetusFatherMotherOverlappedaPaternal informativebMaternal informativec
α-thal F1M14wk 3d9.3αα/--SEAαα/--SEA--SEA/--SEA9761611515
α-thal F2F12wk 3d13.2αα/αααα/--SEAαα/--SEA8261610d13
α-thal F3F18wk 2d7.7αα/--SEAαα/--SEA--SEA/--SEA8761611116
α-thal F4M17wk 1d7.1αα/--SEAαα/--SEAαα/--SEA9765651631
FamilyFetal sexGestational ageFetal DNA fraction (%)GenotypeNumber of SNPs in the haplotype block adjacent to the SEA deletion determined by dHapSeqSNPs used in NIPT
FatherMotherFetusFatherMotherOverlappedaPaternal informativebMaternal informativec
α-thal F1M14wk 3d9.3αα/--SEAαα/--SEA--SEA/--SEA9761611515
α-thal F2F12wk 3d13.2αα/αααα/--SEAαα/--SEA8261610d13
α-thal F3F18wk 2d7.7αα/--SEAαα/--SEA--SEA/--SEA8761611116
α-thal F4M17wk 1d7.1αα/--SEAαα/--SEAαα/--SEA9765651631

--SEA, Southeast Asian deletion.

aThis column displays the number of SNPs that overlap between the father and mother's haplotype blocks. These SNPs were used further in analyses to determine paternal and maternal inheritance.

bParental informative SNPs are those that are heterozygous in the father and homozygous in the mother. These SNPs were used to determine the fetal inheritance of the paternal variant.

cMaternal informative SNPs are those that are heterozygous in the mother regardless of whether the SNP is homozygous or heterozygous in the father. These SNPs were used to determine the fetal inheritance of the maternal variant.

dIn the family α-thal F2, the father was homozygous wild-type (αα/αα). The paternal inheritance was not tested since the fetus would certainly inherit a wild-type allele from its father.

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