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Noninvasive prenatal diagnosis for Hemophilia A by haplotype-based approach using cell-free fetal DNA in maternal plasma
Abstract: Because of the background of maternal DNA and technical obstacles in determining the inversion breakpoint in plasma, the direct detection of intron 22 inversion in the F8 gene is impracticable. A haplotype-based method could potentially solve this problem by analyzing mutation-linked polymorphism sites. This study aimed to demonstrate the feasibility of haplotype-based noninvasive prenatal diagnosis for Haemophilia A. Two families affected by Haemophilia A participated in our study. Maternal haplotypes associated with pathogenic mutations were generated using targeted region genotypes of the mothers and the probands. Combined with the maternal pathogenic haplotypes, a hidden Markov Model was constructed to deduce fetal haplotypes using high-coverage targeted sequencing of maternal plasma DNA. The presence of a pathogenic haplotype in a male indicated an affected fetus, and that in a female indicated a carrier. Prenatal diagnoses were confirmed with amniocentesis and long-distance PCR. The haplotype-based noninvasive prenatal diagnosis of Haemophilia A was successfully performed. One fetus was identified to be Hemophilia A-negative and the other fetus was identified as a carrier; the results were confirmed by amniocentesis. Our research demonstrated the feasibility of noninvasive prenatal diagnosis of Hemophilia A caused by intron 22 inversion in the F8 gene using a haplotype-based approach. Keywords: factor VIII; haemophilia A; haplotype; targeted sequencing; noninvasive prenatal diagnosis.
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