Noninvasive prenatal diagnosis of hemophilia A by a haplotype-based approach using cell-free fetal DNA

Noninvasive prenatal diagnosis of hemophilia A by a haplotype-based approach using cell-free fetal DNA

Aim: We aimed to demonstrate noninvasive prenatal diagnosis (NIPD) of hemophilia A (HA) using a haplotype-based approach. Methods: Two families at risk for HA were recruited for this study. First, maternal haplotypes associated with pathogenic variants were constructed using the genotypes of the mot...

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Veröffentlicht in:BioTechniques. - 1991. - 68(2020), 3 vom: 03. März, Seite 117-121
1. Verfasser: Chen, Chao (VerfasserIn)
Weitere Verfasser: Sun, Jun, Yang, Yun, Jiang, Lu, Guo, Fengyu, Zhu, Yaping, Li, Dan, Wu, Renhua, Lu, Rong, Zhao, Mei, Chen, Fang, Ni, Peixiang, He, Zhihui, Peng, Zhiyu
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2020
Zugriff auf das übergeordnete Werk:BioTechniques
Schlagworte:Journal Article Research Support, Non-U.S. Gov't factor VIII haplotype hemophilia A noninvasive prenatal diagnosis targeted sequencing Cell-Free Nucleic Acids
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520 |a Aim: We aimed to demonstrate noninvasive prenatal diagnosis (NIPD) of hemophilia A (HA) using a haplotype-based approach. Methods: Two families at risk for HA were recruited for this study. First, maternal haplotypes associated with pathogenic variants were constructed using the genotypes of the mothers and probands. Then, fetal haplotypes were deduced using a maternal haplotype-assisted hidden Markov model. Finally, the NIPD results were further confirmed by invasive prenatal diagnosis. Results: Two fetal genotypes were successfully inferred, with one normal fetus and one carrier fetus. The NIPD results were confirmed by invasive prenatal diagnosis, with a 100% consistency rate. Conclusion: Our test has been shown to be accurate and reliable. With further validation in a large patient cohort, this haplotype-based approach could be feasible for the NIPD of HA and other X-linked single-gene disorders 
650 4 |a Journal Article 
650 4 |a Research Support, Non-U.S. Gov't 
650 4 |a factor VIII 
650 4 |a haplotype 
650 4 |a hemophilia A 
650 4 |a noninvasive prenatal diagnosis 
650 4 |a targeted sequencing 
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700 1 |a Sun, Jun  |e verfasserin  |4 aut 
700 1 |a Yang, Yun  |e verfasserin  |4 aut 
700 1 |a Jiang, Lu  |e verfasserin  |4 aut 
700 1 |a Guo, Fengyu  |e verfasserin  |4 aut 
700 1 |a Zhu, Yaping  |e verfasserin  |4 aut 
700 1 |a Li, Dan  |e verfasserin  |4 aut 
700 1 |a Wu, Renhua  |e verfasserin  |4 aut 
700 1 |a Lu, Rong  |e verfasserin  |4 aut 
700 1 |a Zhao, Mei  |e verfasserin  |4 aut 
700 1 |a Chen, Fang  |e verfasserin  |4 aut 
700 1 |a Ni, Peixiang  |e verfasserin  |4 aut 
700 1 |a He, Zhihui  |e verfasserin  |4 aut 
700 1 |a Peng, Zhiyu  |e verfasserin  |4 aut 
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