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Chapter 21 - Genetic Counseling and Prenatal Diagnosis of Congenital Bleeding Disorders

from Section 7 - Hemorrhagic Disorders

Published online by Cambridge University Press:  01 February 2018

By
Nicola Curry  and
Andrew Mumford
Edited by
Sue Pavord  and
Beverley Hunt
Sue Pavord
Affiliation:
University of Oxford
Beverley Hunt
Affiliation:
King's College London
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The Obstetric Hematology Manual , pp. 255 - 264
Publisher: Cambridge University Press
Print publication year: 2018

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References

Chi, C, Kadir, R. Inherited bleeding disorders in pregnancy. Best Practice and Research Clinical Obstetrics and Gynecology 2012; 26: 103–117.CrossRefGoogle ScholarPubMed
Kadir, R, Chi, C, Bolton-Maggs, P. Pregnancy and rare bleeding disorders. Hemophilia 2009; 15: 990–1005.CrossRefGoogle ScholarPubMed
Ludlam, CA, Pasi, KJ, Bolton-Maggs, P et al. A framework for genetic service provision for hemophilia and other inherited bleeding disorders. Hemophilia 2005; 11: 145–163.CrossRefGoogle ScholarPubMed
Miller, R. Genetic Counseling for Hemophilia. World Federation of Hemophilia; 2002. www.wfh.orgGoogle Scholar
Kasper, CK, Lin, JC. Prevalence of sporadic and familial hemophilia. Hemophilia 2007; 13: 90–92.Google Scholar
Plug, I, Mauser-Bunschoten, EP, Broker-Vriends, AH et al. Bleeding in carriers of hemophilia. Blood 2006; 108: 52–56.Google Scholar
Shetty, S, Ghosh, K, Pathare, A, Mohanty, D. Carrier detection in hemophilia A families: comparison of conventional coagulation parameters with DNA polymorphism analysis – first report from India. Hemophilia 2001; 5: 243–246.Google Scholar
Keeney, S, Mitchell, M, Goodeve, A; on behalf of the UK Haemophilia Centre Doctors’ Organisation (UKHCDO), the Haemophilia Genetics Laboratory Network and the Clinical Molecular Genetics Society. Practice Guidelines for the Molecular Diagnosis of Haemophilia A; 2010. http://www.acgs.uk.com/media/774613/haemophilia_a_bpg_revision_sept_2011_approved.pdfGoogle Scholar
Mitchell, M, Keeney, S, Goodeve, A; on behalf of the UK Haemophilia Centre Doctors’ Organisation (UKHCDO), the Haemophilia Genetics Laboratory Network and the Clinical Molecular Genetics Society. Practice Guidelines for the Molecular Diagnosis of Haemophilia B; 2010. http://www.acgs.uk.com/media/774631/haemophilia_b_bpg_revision_sept_2011_approved.pdfGoogle Scholar
Kessler, L, Adams, R, Mighion, L et al. Prenatal diagnosis in hemophilia A: experience of the genetic diagnostic laboratory. Hemophilia 2014; 20: e384–391.CrossRefGoogle ScholarPubMed
Rallapalli, PM, Kemball-Cook, G, Tuddenham, EG et al. An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B. Journal of Thrombosis and Haemostasis 2013; 11: 1329–1340.CrossRefGoogle ScholarPubMed
Payne, AB, Bean, CJ, Hooper, WC, Miller, CH. Utility of multiplex ligation-dependent probe amplification (MLPA) for hemophilia mutation screening. Journal of Thrombosis and Haemostasis 2012; 10: 1951–1954.CrossRefGoogle ScholarPubMed
Leuger, M, Oldenburg, J Lavergne, J-M et al. Somatic mosaicism in hemophilia A: a fairly common event. American Journal of Human Genetics 2001; 69: 75–87.Google Scholar
Green, PM, Saad, S, Lewis, CM, Gianelli, F. Mutation rates in humans I: overall and sex-specific rates obtained from a population study of hemophilia B. American Journal of Human Genetics 1999; 65: 1572–1579.CrossRefGoogle ScholarPubMed
Lee, C, Chi, C, Pavord, SR et al. The obstetric and gynecological management of women with inherited bleeding disorders – review of guidelines produced by a taskforce of UK Hemophilia Center Doctors’ Organization. Hemophilia 2006; 12: 301–336.CrossRefGoogle ScholarPubMed
Lewis, C, Hill, M, Skirton, H, Chitty, LS. Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users’ perspective. European Journal of Human Genetics 2012; 20: 1127–1133.CrossRefGoogle ScholarPubMed
Colmant, C, Morin-Surroca, M, Fuchs, F et al. Non-invasive prenatal testing for fetal sex determination: is ultrasound still relevant? European Journal of Obstetrics & Gynecology and Reproductive Biology 2013; 171: 197–204.CrossRefGoogle ScholarPubMed
Avent, N, Chitty, LS. Non-invasive diagnosis of fetal sex; utilization of free fetal DNA in maternal plasma and ultrasound. Prenatal Diagnosis 2006; 26: 598–603.CrossRefGoogle ScholarPubMed
Bustamente-Aragones, A, Rodriguez de Alba, M, Gonzalez-Gonzalez, C et al. Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing hemophilia in the foetuses of female carriers. Hemophilia 2008; 14: 593–598.CrossRefGoogle Scholar
RCOG. Amniocentesis and Chorionic Villous Sampling. Green-Top Guideline No. 8. London: Royal College of Obstetricians and Gynecologists; 2010. http://www.rcog.org.uk/Google Scholar
Alfirevic, Z, Mujezinovic, F, Sundberg, K. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database of Systematic Reviews 2003 (3): CD003252.Google Scholar
Cutler, J, Chappell, LC, Kyle, P, Madan, B. Third trimester amniocentesis for diagnosis of inherited bleeding disorders prior to delivery. Hemophilia 2013; 19: 904–907.CrossRefGoogle ScholarPubMed
Peyvandi, F, Garagiola, I, Mortarino, M. Prenatal diagnosis and preimplantation genetic diagnosis: novel technologies and state of the art of PGD in different regions of the world. Hemophilia 2011; 17 (Suppl 1): 14–17.CrossRefGoogle ScholarPubMed
Michelidis, K, Tuddenham, EG, Turner, C et al. Live birth following the first mutation specific pre-implantation genetic diagnosis for hemophilia A. Thrombosis and Hemostasis 2006; 95: 373–379.Google Scholar
Tsui, NBY, Kadir, RA, Chan, KC et al. Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood 2011; 117: 3684–3691.CrossRefGoogle ScholarPubMed

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