American Society of Hematology

Figure 1.

$Figure 1. Noninvasive prenatal testing for hemophilia families with F8 int22h-related inversions. Pedigree for 3 families with a history of hemophilia examined by a targeted MPS and RHDO approach. Genotypes of the mother and proband in family 16 and family 17, or the mother and the placental tissue in family 18, were used in a haplotype analysis to infer fetal inheritance of F8 int22h-related inversions. The informative SNPs that were heterozygous in the mother (AB) and hemizygous in proband (A-) were selected. The SNP alleles found in proband belonged to the haplotype linked with the F8 int22h-related inversion (Hap I, red). The SNP alleles absent from the proband belonged to the haplotype not linked with the F8 int22h-related inversion (Hap II, blue). The tail and tip of an arrow denote the start and end, respectively, of a RHDO block. Vertical red, black, and purple lines correspond to the location of the F8 gene and int22h-1 and int22h-3 homologs on chromosome X, respectively. The vertical dashed gray line illustrates a centromere-region boundary. For family 16 and family 18, the fetus had inherited Hap I from the mother, where the haplotype blocks in the F8 region were found to be linked to the proband’s int22h-related inversion. The cross symbol in the placental tissue in family 16 indicates a recombination event in the chromosome position chrX: 141,078,676. In family 17, haplotype blocks in the F8 region were found to be linked to Hap II, suggesting the presence of an unaffected fetus. CEN region and TEL region, centromeric and telomeric region, respectively; FF, fetal DNA fraction; Gest age, gestational age.$

Noninvasive prenatal testing for hemophilia families with F8 int22h-related inversions. Pedigree for 3 families with a history of hemophilia examined by a targeted MPS and RHDO approach. Genotypes of the mother and proband in family 16 and family 17, or the mother and the placental tissue in family 18, were used in a haplotype analysis to infer fetal inheritance of F8 int22h-related inversions. The informative SNPs that were heterozygous in the mother (AB) and hemizygous in proband (A-) were selected. The SNP alleles found in proband belonged to the haplotype linked with the F8 int22h-related inversion (Hap I, red). The SNP alleles absent from the proband belonged to the haplotype not linked with the F8 int22h-related inversion (Hap II, blue). The tail and tip of an arrow denote the start and end, respectively, of a RHDO block. Vertical red, black, and purple lines correspond to the location of the F8 gene and int22h-1 and int22h-3 homologs on chromosome X, respectively. The vertical dashed gray line illustrates a centromere-region boundary. For family 16 and family 18, the fetus had inherited Hap I from the mother, where the haplotype blocks in the F8 region were found to be linked to the proband’s int22h-related inversion. The cross symbol in the placental tissue in family 16 indicates a recombination event in the chromosome position chrX: 141,078,676. In family 17, haplotype blocks in the F8 region were found to be linked to Hap II, suggesting the presence of an unaffected fetus. CEN region and TEL region, centromeric and telomeric region, respectively; FF, fetal DNA fraction; Gest age, gestational age.

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