Noninvasive detection of F8 int22h-related inversions and sequence variants in maternal plasma of hemophilia carriers-Reference-Cited by-同舟云学术

Noninvasive detection of F8 int22h-related inversions and sequence variants in maternal plasma of hemophilia carriers

Published:2017-07-20 Issue:3 Volume:130 Page:340-347
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Hudecova Irena¹²,Jiang Peiyong¹²,Davies Joanna³⁴,Lo Y. M. Dennis¹²,Kadir Rezan A.³⁴,Chiu Rossa W. K.¹²

Affiliation:

1. Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, Hong Kong, China;

2. Department of Chemical Pathology, The Chinese University of Hong Kong, Hong Kong, China; and

3. Department of Obstetrics and Gynaecology and

4. Katharine Dormandy Haemophilia and Thrombosis Center, Royal Free Hospital, London, United Kingdom

Abstract

Key Points Droplet digital PCR is an affordable and user-friendly method for the detection of F8 and F9 sequence variants in maternal plasma. Targeted MPS accurately determines fetal inheritance of F8 int22h-related inversions, using maternal plasma of pregnant hemophilia carriers.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/130/3/340/1404602/blood755017.pdf

Reference30 articles.

1. Haemophilia A and haemophilia B: molecular insights;Bowen;Mol Pathol,2002

2. Pregnancy in carriers of haemophilia;Chi;Haemophilia,2008

3. Carrier testing and prenatal diagnosis for hemophilia: experiences and attitudes of 549 potential and obligate carriers;Varekamp;Am J Med Genet,1990

4. Comparison of attitudes towards prenatal diagnosis and termination of pregnancy for haemophilia in Iran and Italy;Karimi;Haemophilia,2004

5. Management of pregnancy, labour and delivery in women with inherited bleeding disorders;Huq;Haemophilia,2011

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