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Taiwan J Obstet Gynecol. 2017 Oct;56(5):686-690. doi: 10.1016/j.tjog.2017.08.020.

Noninvasive prenatal diagnosis for X-linked disease by maternal plasma sequencing in a family of Hemophilia B.

Author information

1
State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing, China.
2
BGI-Shenzhen, Shenzhen, China; Tianjin Translational Genomics Center, BGI-Tianjin, BGI-Shenzhen, Tianjin, China; Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen, Tianjin, China.
3
Department of Laboratory Medicine, the First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
4
BGI-Shenzhen, Shenzhen, China.
5
State Key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Nanjing, China. Electronic address: zhengfeng_xu_nj@163.com.

Abstract

OBJECTIVE:

To apply a Hidden Markov Model to test Hemophilia B in a fetus by maternal plasma sequencing only employing proband and maternal haplotypes.

CASE REPORT:

A family at risk for Hemophilia B was recruited in this study. We performed genetic diagnosis on the proband using our targeted capture system (containing F9 gene coding region, highly heterozygous SNPs and a 13-kb chromosome Y specific region), and revealed a causative F9 gene mutation (c.190T>C, p.Cys64Arg). Maternal plasma cell-free DNA obtained at 8 weeks of gestation was targeted-captured and sequenced using the customized system. The fetus inherited the F9 (c.190T>C, p.Cys64Arg) mutation according to the Hidden Markov Model. The mother continued the pregnancy.

CONCLUSIONS:

This study is the first report of a haplotype-based approach in NIPD of Hemophilia B. With further evaluation, this method might be useful for NIPD of Hemophilia B and for other X-linked single-gene disorders.

KEYWORDS:

Hemophilia B; Massively parallel sequencing; Noninvasive prenatal diagnosis; Single-gene disorders; Target-gene capture

PMID:
29037559
DOI:
10.1016/j.tjog.2017.08.020
[Indexed for MEDLINE]
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