Article

Haplotype-based non-invasive prenatal testing of F8 complex rearrangement via targeted capture sequencing of maternal plasma

2026-07-31

Abstract excerpt

Hemophilia A (HA) is an X-linked recessive bleeding disorder primarily caused by the intron 22 inversion (Inv22) in F8 gene, which accounts for approximately 45% of all cases. A minor proportion of HA results from complex structural rearrangements (CSRs) in F8 gene. However, the ability of non-invasive prenatal testing (NIPT) to detect F8 -related CSRs has not been evaluated. In this study, we applied NIPT to eval...

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Literature Corpus work: 203b06b2-d7b5-5ffc-89f3-49fbe3471d8f
DOI: 10.1186/s12920-026-02442-2

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