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INHERITED BLEEDING DISORDERS IN PREGNANCY

Part of: Bespoke shallow archive Weizmann

Published online by Cambridge University Press:  01 August 2009

SUE R PAVORD  and
WILLIAM LESTER
SUE R PAVORD
Affiliation:
Consultant Haematologist, Department of Haematology, Leicester Royal Infirmary, Leicester LE1 5WW.
WILLIAM LESTER
Affiliation:
Consultant Haematologist, Department of Haematology, Queen Elizabeth Hospital, Edgbaston, Birmingham B15 2TH.
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Extract

Inherited bleeding disorders pose a particular challenge for pregnancy and the puerperium, due to both the inheritance risk to the fetus and the bleeding risk to the mother. Women at risk require counselling to address the following questions

  1. 1 Will I bleed?

  2. 2 What treatment do I need?

  3. 3 Can I pass it on to my children?

Type
Research Article
Information
Fetal and Maternal Medicine Review , Volume 20 , Issue 3 , August 2009 , pp. 205 - 227
Copyright
Copyright © Cambridge University Press 2009

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References

REFERENCES

1Chi, C, Shiltagh, N, Kingman, CE, Economedes, CEC, Lee, DL, Kadir, RA. Identification and management of women with inherited bleeding disorders: a survey of obstetricians and gynaecologists in the United Kingdom. Haemophilia 2006; 12: 405–12.CrossRefGoogle ScholarPubMed
2Kadir, R, Chi, C, Bolton-Maggs, P. Pregnancy and Rare Bleeding Disorders. Haemophilia 2009; (in press).CrossRefGoogle Scholar
3Ludlam, CA, Pasi, KJ, Bolton-Maggs, P, Collins, PW, Cumming, AM, Dolan, G et al. A framework for genetic service provision for haemophilia and other inherited bleeding disorders. Haemophilia 2005; 11: 145–63.CrossRefGoogle ScholarPubMed
4http://www.b-s-h.org.uk/DirectoryV2.June2003.pdfGoogle Scholar
5Kasper, CK, Lin, JC. Prevalence of sporadic and familial haemophilia. Haemophilia 2007; 13: 90–92.CrossRefGoogle ScholarPubMed
6Green, PM, Saad, S, Lewis, CM, Gianelli, F. Mutation rates in humans l:overall and sex-specific rates obtained from a population study of haemophilia B. Am J Hum Genet 1999; 65: 1572–579.CrossRefGoogle Scholar
7Kasper, CK, Buzin, CH. Genetics of Hemophilia A and B: an introduction for clinicians. 2007.Google Scholar
8Bröcker-Vriends, AHJT, Briët, E, Dreesen, JCFM, Bakker, B, Reitsma, P, Pannekoek, H, van de Kamp, JJP, Pearson, PL. Somatic origin of inherited haemophilia A. Hum Genet 1990; 85: 288–92.CrossRefGoogle ScholarPubMed
9Leuer, M, Oldenburg, J, Lavergne, J-M, Ludwig, M, Fregin, A, Eigel, A et al. Somatic mosaicism in haemophilia A: a fairly common event. Am J Hum Genet 2001; 69: 75–87.CrossRefGoogle ScholarPubMed
10Lyon, MF. Sex chromatin and gene action in the mammalian X-chromosome. Am J Hum Genet 1962; 14: 135–48.Google ScholarPubMed
11Mauser Bunschoten, EP, van Houwelingen, JC, Sjamsoedin Visser, EJM, van Dijken, PJ, Kok, AJ, Sixma, JJ. Bleeding symptoms in carriers of haemophilia A and B. Thromb Haemost 1988; 59: 349–52.Google Scholar
12Plug, I, Mauser-Bunschoten, EP, Brocker-Vriends, AH, van Amstel, HK, Van Der Bom, JG, van Diemen-Horman, JE, Willemse, J, Rosendaal, FR. Bleeding in carriers of haemophilia. Blood 2006; 108: 52–56.CrossRefGoogle Scholar
13Merskey, C. The occurrence of haemophilia in the human female. QJM 1951; 20: 299–312.Google ScholarPubMed
14Morita, H, Kagami, M, Ebata, Y, Yoshimura, H. The occurrence of homozygous hemophilia in the female. Acta Haematol 1971; 45: 112–19.CrossRefGoogle ScholarPubMed
15Favier, R, Lavergne, J-M, Costa, J-M, Caron, C, Mazurier, C, Viémont, M et al. Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female. Blood 2000; 96: 4373–375.CrossRefGoogle ScholarPubMed
16David, D, Morais, S, Ventura, C, Campos, M. Female haemophiliac homozygous for the factor VIII intron 22 inversion mutation, with transcriptional inactivation of one of the factor VIII alleles. Haemophilia 2003; 9: 125–30.CrossRefGoogle ScholarPubMed
17Wahlberg, T, Blomback, M, Brodin, U. Carriers and non carriers of haemophilia A: multivariate analysis of pedigree data, screening blood coagulation and factor VIII variables. Thromb Res 1982; 25: 410–14.CrossRefGoogle ScholarPubMed
18Graham, JB, Rizza, CR, Chediak, J, Mannucci, PM, Briet, E, Ljung, R et al. Carrier detection in hemophilia A: a cooperative international study. I. The carrier phenotype. Blood 1986; 67: 1554–559.CrossRefGoogle Scholar
19Shetty, S, Ghosh, K, Pathare, A, Mohanty, D. Carrier detection in haemophilia A families: comparison of conventional coagulation parameters with DNA polymorphism analysis – first report from India. Haemophilia 2001; 5: 243–46.CrossRefGoogle Scholar
20Rizza, CR, Rhymes, IL, Austen, DE, Kernoff, PB, Arni, SA. Detection of carriers of haemophilia: a “blind” study. Br J Haematol 1975; 30: 447–56.CrossRefGoogle ScholarPubMed
21http://europium.csc.mrc.ac.uk. The Haemophilia A Mutation, Structure, Test and Resource Site. (Accessed 21 October 2008).Google Scholar
22http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html.Google Scholar
23Brocker-Vriends, AH, Bakker, E, Kanhai, HH, van Ommen, GJ, Reitsma, PH, van de Kamp, JJ, Briet, E. The contribution of DNA analysis to carrier detection and prenatal diagnosis of hemophilia A and B. Ann Hematol 1992; 64: 2–11.CrossRefGoogle ScholarPubMed
24Naylor, J, Brinke, A, Hassock, S, Green, PM, Giannelli, F. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet 1993; 2: 1773—778.CrossRefGoogle Scholar
25Lakich, D, Kazazian, HH Jr, Antonarakis, SE, Gitschier, J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nat Genet 1993; 5: 236–41.CrossRefGoogle ScholarPubMed
26Antonarakis, SE, Rossiter, JP, Young, M, Horst, J, de Moerloose, P, Sommer, SS et al. Factor VIII gene inversion in severe haemophilia A: results of an international consortium study. Blood 1995; 86: 2206–212.CrossRefGoogle ScholarPubMed
27Cumming, AM. UK Haemophilia Centre Doctors’ Organization Haemophilia Genetics Laboratory Network. The factor VIII gene intron 1 inversion mutation: prevalence in severe hemophilia A patients in the UK. J Thromb Haemost 2004; 2: 205–206.CrossRefGoogle Scholar
28Bagnall, RD, Waseem, N, Green, PM, Gianelli, F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002; 99: 168–74.CrossRefGoogle ScholarPubMed
29Antonarakis, SE, Waber, PG, Kittur, SD, Patel, AS, Kazazian, HH Jr, Mellis, MA et al. Haemophilia A. Detection of molecular defects and of carriers by DNA analysis. N Eng J Med 1985; 313: 842–48.CrossRefGoogle ScholarPubMed
30Tizzano, EF, Barcelo, MJ, Baena, M, Cornet, M, Vencesla, A, Mateo, J et al. Rapid identification of female carriers with deletions in the factor VIII gene by quantitative real-time PCR analysis. Thromb Haemost 2005; 94: 661–64.Google ScholarPubMed
31Pavlova, A, Forster, T, Delev, D, Schroder, J, El-Maarri, O, Muller-Reible, C et al. Heterozygous large deletions of factor 8 gene in females identified by multiplex PCR-LC. Haemophilia 2008; 14: 599–606.CrossRefGoogle ScholarPubMed
32Quadros, L, Ghosh, K, Shetty, S. Novel mutations in factor IX gene from western India with reference to their phenotypic and haplotypic attributes. J Paediatr Haematol Oncol 2009; 31: 157–60.CrossRefGoogle ScholarPubMed
33Keeney, S, Mitchell, M, Goodeve, A. The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors’ organization haemophilia genetics laboratory network. Haemophilia 2005; 11: 387–97.CrossRefGoogle ScholarPubMed
34Mitchell, M, Keeney, S, Goodeve, A, and UK Haemophilia Centre Doctors’ Organization Haemophilia Genetics Laboratory Network. The molecular analysis of haemophilia B: a guideline from the UK haemophilia centre doctors’ organization haemophilia genetics laboratory network. Haemophilia 2005; 11: 398–404.CrossRefGoogle ScholarPubMed
35Chi, C, Hyett, JA, Finning, KM, Lee, CA, Kadir, RA. Non-invasive first trimester determination of fetal gender: a new approach for prenatal diagnosis of haemophilia. BJOG 2006; 113: 239–42.CrossRefGoogle Scholar
36Avent, N, Chitty, LS. Non-invasive diagnosis of fetal sex; utilisation of free fetal DNA in maternal plasma and ultrasound. Prenat Diagn 2006; 26: 598–603.CrossRefGoogle ScholarPubMed
37Bustamente-Aragones, A, Rodriguez de Alba, M, Gonzalez-Gonzalez, C, Trujillo-Tiebas, MJ, Diego-Alvarez, D, Vallespin, E et al. Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers. Haemophilia 2008; 14: 593–98.CrossRefGoogle Scholar
38Zampieri, N, Zamboni, C, Ghidini, A, Borruto, F, Camoglio, FS. Prenatal sonographic evaluation of male genitalia development. Minerva Ginecol 2008; 60: 317–21.Google ScholarPubMed
39Hsiao, CH, Wang, HC, Hsieh, CF, Hsu, JJ. Fetal gender screening by ultrasound at 11 to 13(+6) weeks. Acta Obstet Gynecol Scand 2008; 87: 8–13.CrossRefGoogle Scholar
40Firth, HV, Boyd, PA, Chamberlain, PF, MacKenzie, IZ, Morriss-Kay, GM, Huson, SM. Analysis of limb reduction defects in babies exposed to chorionic villous sampling. Lancet 1994; 344: 435–39.Google Scholar
41Tabor, A, Philip, J, Madsen, M, Bang, J, Obel, EB, Norgaard-Pedersen, B. Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet 1986; 1: 1287–293.CrossRefGoogle ScholarPubMed
42Nicolaides, K, Brizot, ML, Patel, F, Snijders, R. Comparison of chorionic villous sampling and amniocentesis for fetal kayotyping at 10–13 weeks’ gestation. Lancet 1994; 344: 435–39.CrossRefGoogle Scholar
43Nicolaides, KH, De Lourdes Brizot, M, Patel, F, Snijders, R. Comparison of chorion villus sampling and early amniocentesis for karyotyping in 1,492 singleton pregnancies. Fetal Diagn Ther, 1996; 11: 9–15.CrossRefGoogle Scholar
44Mannucci, PM. Use of desmopressin (DDAVP) during early pregnancy in factor VIII–deficient women. Blood 2005; 105: 3382.CrossRefGoogle ScholarPubMed
45Grifo, JA, Giatras, K, Tang, YX, Krey, LC. Successful outcome with day 4 embryo transfer after preimplantation diagnosis for genetically transmitted diseases. Hum Reprod 1998; 13: 1656–659.CrossRefGoogle ScholarPubMed
46Soussis, I, Harper, JC, Handyside, AH, Winston, RML. Obstetric outcome of pregnancies resulting from embryos biopsied for pre-implantation diagnosis of inherited disease. BJOG 2005; 103: 784–88.CrossRefGoogle Scholar
47Michaelidis, K, Tuddenham, EG, Turner, C M, Lavender, B, Lavery, SA. Live birth following the first mutation specific pre-implantation genetic diagnosis for haemophilia A. Thromb Haemost 2006; 95: 373–79.Google Scholar
48Hodor, J, Poggi, S, Spong, C, Goodwin, K, Vink, J, Pezzullo, J et al. Risk of Third-Trimester Amniocentesis: A Case Control Study. Am J Perinatol 2006; 23: 177–80.CrossRefGoogle ScholarPubMed
49Forestier, F, Daffos, F, Galacteros, F, Bardakjian, J, Rainaut, M, Beuzard, Y. Hematological values of 163 normal fetuses between 18 and 30 weeks of gestation. Pediatr Res 1986; 20: 342–46.CrossRefGoogle ScholarPubMed
50Majer, S, Bauer, M, Magnet, E, Strele, A, Giegerl, E, Eder, M et al. Maternal urine for prenatal diagnosis – an analysis of cell-free fetal DNA in maternal urine and plasma in the third trimester. Prenat Diagn 2007; 27: 1219–223.CrossRefGoogle ScholarPubMed
51Chi, C, Lee, CA, Shitagh, N, Khan, A, Pollard, D, Kadir, RA. Pregnancy in carriers of haemophilia. Haemophilia 2008; 14: 6–64.CrossRefGoogle ScholarPubMed
52Karimi, M, Peyvandi, F, Siboni, S, Ardeshiri, R, Gringeri, A, Mannucci, PM. Comparison of attitudes towards prenatal diagnosis and termination of pregnancy for haemophilia in Iran and Italy. Haemophilia 2004; 10: 367–69.CrossRefGoogle ScholarPubMed
53Kadir, RA, Economides, DL, Braithwaite, J, Goldman, E, Lee, CA. The obstetric experience of carriers of haemophilia. BJOG 1997; 104: 803–10.CrossRefGoogle ScholarPubMed
54Beke, A, Ban, Z, Nagy, B, Toth-Pal, E, Papp, C, Csaba, A et al. Pre- and perinatal relations of haemophilia A and B. Fetal Diagn Ther 2003; 18: 17–25.CrossRefGoogle Scholar
55Letsky, EA. Haemostasis and epidural anaesthesia. Int J Obstetric Anesth 1991; 1: 51–54.CrossRefGoogle ScholarPubMed
56Ljung, R, Lindgren, AC, Petrini, P, Tengborn, L. Normal vaginal delivery is to be recommended for haemophilia carrier gravidae. Acta Paediatr 1994; 83: 6901–911.Google ScholarPubMed
57Michaud, JL, Rivard, GE, Chessex, P. Intracranial hemorrhage in a newborn with hemophilia following elective cesarean section. Am J Pediatr Hematol Oncol 1991; 13: 473–75.CrossRefGoogle Scholar
58Andrew, M, Paes, B, Milner, R, Johnston, M, Mitchell, L, Tollefsen, DM et al. Development of the human coagulation system in the full-term infant. Blood 1987; 70: 165–72.CrossRefGoogle ScholarPubMed
59Stirling, Y, Woolf, L, North, WR, Seghatchian MJ, Meade TW. Haemostasis in normal pregnancy. Thromb Haemost 1984; 52: 176–82.Google ScholarPubMed
60Lee, CA, Chi, C, Pavord, SR, Bolton-Maggs, PHB, Pollard, D, Hinchcliffe-Wood, A et al. UK haemophilia Centre Doctors’ Organization. The obstetric and gynaecological management of women with inherited bleeding disorders–review with guidelines produced by a taskforce of UK Haemophilia Centre Doctors’ organization. Haemophilia 2006; 12: 301–36.CrossRefGoogle ScholarPubMed
61Baehner, RL, Strauss, HS. Hemophilia in the first year of life. N Engl J Med 1966; 275: 524–28.CrossRefGoogle ScholarPubMed
62Kulkarni, R, Lusher, JM. Intracranial and extracranial hemorrhages in newborns with hemophilia: a review of the literature. J Pediatr Hematol Oncol 1999; 21: 289–95.CrossRefGoogle ScholarPubMed
63Myles, LM, Massicotte, P, Drake, J. Intracranial hemorrhage in neonates with unrecognized hemophilia A: a persisting problem. Pediatr Neurosurg 2001; 34: 94–97.CrossRefGoogle ScholarPubMed
64Kulkarni, R, Lusher, JM. Intracranial and extracranial hemorrhages in newborns with hemophilia: a review of the literature. J Pediatr Hematol Oncol 1999; 21: 289–95.CrossRefGoogle ScholarPubMed
65Madoiwa, S, Yamauchi, T, Hakamata, Y, Kobayashi, E, Arai, M, Sugo, T et al. J Thromb Haemost 2004; 2: 754–62.CrossRefGoogle Scholar
66Gouw, SC, Van Den Berg, HM, le Cessie, S, Van Der Bom, JG. Treatment characteristics and the risk of inhibitor development: a multicenter cohort study among previously untreated patients with severe hemophilia A. J Thromb Haemost 2007; 5: 1383–390.CrossRefGoogle ScholarPubMed
67Gouw, SC, Van Der Bom, JG, Marijke Van Den Berg, H. Treatment-related risk factors of inhibitor development in previously untreated patients with hemophilia A: the CANAL cohort study. Blood 2007; 109: 4648–654.CrossRefGoogle ScholarPubMed
68Wahlberg, PE. Hereditary Pseudohaemophilia. (English language translations of von Willebrand EA (1926) Hereditar pseudohemofili. Finska Lakaresalkapets Handlingar 67:87–112 and von Willebrand EA (1931) Uber hereditare pseudohemophilie. Acta Medica Scandanavica 76:521–550). Haemophilia 1999; 5: 223–31.Google Scholar
69Sadler, JE, Mannucci, PM, Berntorp, E, Bochkov, N, Boulyjenkov, V, Ginsburg, D et al. Impact, diagnosis and treatment of von Willebrand disease. Thromb Haemost 2000; 84: 160–74.CrossRefGoogle ScholarPubMed
70Doucet-de Bruine, MH, Sixma, JJ, Over, J, Beeser-Visser, NH. Heterogeneity of human factor VIII. II. Characterization of forms of factor VIII binding to platelets in the presence of ristocetin. J Lab Clin Med 1978; 92: 96–107.Google ScholarPubMed
71Moake, JL, Turner, NA, Stathopoulos, NA, Nolasco, LH, Hellums, JD. Involvement of large plasma von Willebrand factor (vWF) multimers and unusually large vWF forms derived from endothelial cells in shear stress-induced platelet aggregation. J Clin Invest 1986; 78: 1456–461.CrossRefGoogle ScholarPubMed
72Federici, AB, Bader, R, Pagani, S, Colibretti, ML, De Marco, L, Mannucci, PM. Binding of von Willebrand factor to glycoproteins Ib and IIb/IIIa complex: affinity is related to multimeric size. Br J Haematol 1989; 73: 93–99.CrossRefGoogle ScholarPubMed
73Christophe, O, Ribba, AS, Baruch, D, Obert, B, Rouault, C, Niinomi, K et al. Influence of mutations and size of multimers in type II von Willebrand disease upon the function of von Willebrand factor. Blood 1994; 83: 3553–561.CrossRefGoogle ScholarPubMed
74Ruggeri, ZM, Ware, J. von Willebrand factor. FASEB J 1993; 7: 308–16.CrossRefGoogle ScholarPubMed
75Siedlecki, CA, Lestini, BJ, Kottke-Marchant, KK, Eppell, SJ, Wilson, DL, Marchant, RE. Shear-dependent changes in the three-dimensional structure of human von Willebrand factor. Blood 1996; 88: 2939–950.CrossRefGoogle ScholarPubMed
76Rodeghiero, F, Castaman, G, Dini, E. Epidemiological investigation of the prevalence of von Willebrand's disease. Blood 1987; 69: 454–59.CrossRefGoogle ScholarPubMed
77Werner, EJ, Broxson, EH, Tucker, EL, Giroux, DS, Shults, J, Abshire, TC. Prevalence of von Willebrand disease in children: a multiethnic study. J Pediatr 1993; 123: 893–98.CrossRefGoogle ScholarPubMed
78James, AH, Jamison, MG. Bleeding events and other complications during pregnancy and childbirth in women with von Willebrand disease. J Thromb Haemost 2007; 5: 1165–169.CrossRefGoogle ScholarPubMed
79Holmberg, L, Nilsson, IM. von Willebrand's disease. Eur J Haematol 1992; 48: 127–41.CrossRefGoogle ScholarPubMed
80Bloom, AL. von Willebrand factor: clinical features of inherited and acquired disorders. Mayo Clin Proc 1991; 66: 743–51.CrossRefGoogle ScholarPubMed
81Castaman, G, Eikenboom, JC, Bertina, RM, Rodeghiero, F. Inconsistency of association between type 1 von Willebrand disease phenotype and genotype in families identified in an epidemiological investigation. Thromb Haemost 1999; 82: 1065–1070.Google Scholar
82Sadler, JE. A revised classification of von Willebrand disease. For the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 1994; 71: 520–25.Google ScholarPubMed
83Italian Working Group. Spectrum of von Willebrand's Disease: a study of 100 cases. Italian Working Group. Br J Haematol 1977; 35: 101–12.CrossRefGoogle Scholar
84Holmberg, L, Nilsson, IM. Von Willebrand disease. Clin Haematol 1985; 14: 461–88.CrossRefGoogle ScholarPubMed
85Lattuada, A, Preda, L, Sacchi, E, Gallo, L, Federici, AB, Rossi, E. A rapid assay for ristocetin cofactor activity using an automated coagulometer (ACL 9000). Blood Coagul Fibrinolysis 2004; 15: 505–11.CrossRefGoogle ScholarPubMed
86Favaloro, EJ. Collagen binding assay for von Willebrand factor (VWF:CBA): detection of von Willebrands Disease (VWD), and discrimination of VWD subtypes, depends on collagen source. Thromb Haemost 2000; 83: 127–35.Google ScholarPubMed
87Hillery, CA, Mancuso, DJ, Evan, SJ, Ponder, JW, Jozwiak, MA, Christopherson, PA et al. Type 2M von Willebrand disease: F606I and I662F mutations in the glycoprotein Ib binding domain selectively impair ristoc. Blood 1998; 91: 1572–581.CrossRefGoogle Scholar
88Riddell, AF, Jenkins, PV, Nitu-Whalley, IC, McCraw, AH, Lee, CA, Brown, SA. Use of the collagen-binding assay for von Willebrand factor in the analysis of type 2M von Willebrand disease: a comparison with the ristocetin cofactor assay. Br J Haematol 2002; 116: 187–92.CrossRefGoogle ScholarPubMed
89Fressinaud, E, Veyradier, A, Truchaud, F, Martin, I, Boyer-Neumann, C, Trossaert, M et al. Screening for von Willebrand disease with a new analyzer using high shear stress: a study of 60 cases. Blood 1998; 91: 1325–331.CrossRefGoogle Scholar
90Cattaneo, M, Federici, AB, Lecchi, A, Agati, B, Lombardi, R, Stabile, F et al. Evaluation of the PFA-100 system in the diagnosis and therapeutic monitoring of patients with von Willebrand disease. Thromb Haemost 1999; 82: 35–39.Google ScholarPubMed
91Bennett, B, Ratnoff, OD. Changes in antihemophilic factor (AHF, factor 8) procoagulant activity and AHF-like antigen in normal pregnancy, and following exercise and pneumoencephalography. J Lab Clin Med 1972; 80: 256–63.Google ScholarPubMed
92Sanchez-Luceros, A, Meschengieser, SS, Marchese, C, Votta, R, Casais, P, Woods, AI et al. Factor VIII and von Willebrand factor changes during normal pregnancy and puerperium. Blood Coagul Fibrinolysis 2003; 14: 647–51.CrossRefGoogle ScholarPubMed
93Adashi, EY. Lack of improvement in von Willebrand's disease during pregnancy. N Engl J Med 1980; 303: 1178.Google ScholarPubMed
94Kadir, RA, Lee, CA, Sabin, CA, Pollard, D, Economides, DL. Pregnancy in women with von Willebrand's disease or factor XI deficiency. Br J Obstet Gynaecol 1998; 105: 314–21.CrossRefGoogle ScholarPubMed
95Conti, M, Mari, D, Conti, E, Muggiasca, ML, Mannucci, PM. Pregnancy in women with different types of von Willebrand disease. Obstet Gynecol 1986; 68: 282–85.Google ScholarPubMed
96Ramsahoye, BH, Davies, SV, Dasani, H, Pearson, JF. Obstetric management in von Willebrand's disease: a report of 24 pregnancies and a review of the literature. Haemophilia 1995; 1: 140–44.CrossRefGoogle Scholar
97Lester, WA, Guilliatt, AM, Surdhar, GK, Enayat, SM, Wilde, JT, Willoughby, S et al. Inherited and de novo von Willebrand disease ‘Vicenza’ in UK families with the R1205H mutation: diagnostic pitfalls and new insights. Br J Haematol 2006; 135: 91–96.CrossRefGoogle ScholarPubMed
98Castaman, G, Rodeghiero, F, Tosetto, A, Cappelletti, A, Baudo, F, Eikenboom, JC et al. Hemorrhagic symptoms and bleeding risk in obligatory carriers of type 3 von Willebrand disease: an international, multicenter study. J Thromb Haemost 2006; 4: 2164–169.CrossRefGoogle ScholarPubMed
99Greer, IA, Lowe, GD, Walker, JJ, Forbes, CD. Haemorrhagic problems in obstetrics and gynaecology in patients with congenital coagulopathies. Br J Obstet Gynaecol 1991; 98: 909–18.CrossRefGoogle ScholarPubMed
100Pasi, KJ, Collins, PW, Keeling, DM, Brown, SA, Cumming, AM, Dolan, GC et al. Management of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors’ Organization. Haemophilia 2004; 10: 218–31.CrossRefGoogle ScholarPubMed
101Nichols, WL, Hultin, MB, James, AH, Manco-Johnson, MJ, Montgomery, RR, Ortel, TL et al. von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA). Haemophilia 2008; 14: 171–32.CrossRefGoogle Scholar
102Caliezi, C, Tsakiris, DA, Behringer, H, Kuhne, T, Marbet, GA. Two consecutive pregnancies and deliveries in a patient with von Willebrand's disease type 3. Haemophilia 1998; 4: 845–49.CrossRefGoogle Scholar
103Giles, AR, Hoogendoorn, H, Benford, K. Type IIB von Willebrand's disease presenting as thrombocytopenia during pregnancy. Br J Haematol 1987; 67: 349–53.CrossRefGoogle ScholarPubMed
104Federici, AB, Mannucci, PM, Castaman, G, Baronciani, L, Bucciarelli, P, Canciani, MT et al. Clinical and molecular predictors of thrombocytopenia and risk of bleeding in patients with von Willebrand disease type 2B: a cohort study of 67 patients. Blood 2009; 113: 526–34.CrossRefGoogle ScholarPubMed
105Ngo, KY, Glotz, VT, Koziol, JA, Lynch, DC, Gitschier, J, Ranieri, P et al. Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease. Proc Natl Acad Sci USA 1988; 85: 2753–757.CrossRefGoogle ScholarPubMed
106Eikenboom, JC, Ploos van Amstel, HK, Reitsma, PH, Briet, E. Mutations in severe, type III von Willebrand's disease in the Dutch population: candidate missense and nonsense mutations associated with reduced levels of von Willebrand factor messenger RNA. Thromb Haemost 1992; 68: 448–54.Google ScholarPubMed
107Ginsburg, D, Sadler, JE. von Willebrand disease: a database of point mutations, insertions, and deletions. For the Consortium on von Willebrand Factor Mutations and Polymorphisms, and the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 1993; 69: 177–84.Google ScholarPubMed
108Schneppenheim, R, Krey, S, Bergmann, F, Bock, D, Budde, U, Lange, M et al. Genetic heterogeneity of severe von Willebrand disease type III in the German population. Hum Genet 1994; 94: 640–52.CrossRefGoogle ScholarPubMed
109Zhang, ZP, Blomback, M, Egberg, N, Falk, G, Anvret, M. Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin. Genomics 1994; 21: 188–93.CrossRefGoogle ScholarPubMed
110Eikenboom, JC, Castaman, G, Vos, HL, Bertina, RM, Rodeghiero, F. Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin. Thromb Haemost 1998; 79: 709–17.Google ScholarPubMed
111Ruggeri, ZM, Zimmerman, TS. von Willebrand factor and von Willebrand disease. Blood 1987; 70: 895–904.CrossRefGoogle ScholarPubMed
112Nichols, WC, Lyons, SE, Harrison, JS, Cody, RL, Ginsburg, D. Severe von Willebrand disease due to a defect at the level of von Willebrand factor mRNA expression: detection by exonic PCR-restriction fragment length polymorphism analysis. Proc Natl Acad Sci USA 1991; 88: 3857–861.CrossRefGoogle ScholarPubMed
113Peake, IR, Bowen, D, Bignell, P, Liddell, MB, Sadler, JE, Standen, G et al. Family studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable number tandem repeat region of the von Willebrand factor gene. Blood 1990; 76: 555–61.CrossRefGoogle ScholarPubMed
114Cumming, A, Grundy, P, Keeney, S, Lester, W, Enayat, S, Guilliatt, A et al. An investigation of the von Willebrand factor genotype in UK patients diagnosed to have type 1 von Willebrand disease. Thromb Haemost 2006; 96: 630–41.Google ScholarPubMed
115Keeney, S, Bowen, D, Cumming, A, Enayat, S, Goodeve, A, Hill, M. The molecular analysis of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors’ Organisation Haemophilia Genetics Laboratory Network. Haemophilia 2008; 14: 1099–111.CrossRefGoogle ScholarPubMed
116Goodeve, A, Eikenboom, J, Castaman, G, Rodeghiero, F, Federici, AB, Batlle, J et al. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD). Blood 2007; 109: 112–21.CrossRefGoogle ScholarPubMed
117James, PD, Notley, C, Hegadorn, C, Leggo, J, Tuttle, A, Tinlin, S et al. The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study. Blood 2007; 109: 145–54.CrossRefGoogle ScholarPubMed
118Sadler, JE, Matsushita, T, Dong, Z, Tuley, EA, Westfield, LA. Molecular mechanism and classification of von Willebrand disease. Thromb Haemost 1995; 74: 161–66.Google ScholarPubMed
119Quiroga, T, Goycoolea, M, Panes, O, Aranda, E, Martinez, C, Belmont, S et al. High prevalence of bleeders of unknown cause among patients with inherited mucocutaneous bleeding. A prospective study of 280 patients and 299 controls. Haematologica 2007; 92: 357–65.CrossRefGoogle ScholarPubMed
120Daly, ME, Dawood, BB, Lester, WA, Peake, IR, Rodeghiero, F, Goodeve, AC et al. Identification and characterisation of a novel P2Y12 variant in a patient diagnosed with type 1 von Willebrand disease in the European MCMDM-1VWD study. Blood 2009; 113: 4110–113.CrossRefGoogle Scholar
121Foster, PA. The reproductive health of women with von Willebrand Disease unresponsive to DDAVP: results of an international survey. On behalf of the Subcommittee on von Willebrand Factor of the Scientific and Standardization Committee of the ISTH. Thromb Haemost 1995; 74: 784–90.Google ScholarPubMed
122Lak, M, Peyvandi, F, Mannucci, PM. Clinical manifestations and complications of childbirth and replacement therapy in 385 Iranian patients with type 3 von Willebrand disease. Br J Haematol 2000; 111: 1236–239.CrossRefGoogle ScholarPubMed
123Kouides, PA, Phatak, PD, Burkart, P, Braggins, C, Cox, C, Bernstein, Z et al. Gynaecological and obstetrical morbidity in women with type I von Willebrand disease: results of a patient survey. Haemophilia 2000; 6: 643–48.CrossRefGoogle ScholarPubMed
124Kirtava, A, Drews, C, Lally, C, Dilley, A, Evatt, B. Medical, reproductive and psychosocial experiences of women diagnosed with von Willebrand's disease receiving care in haemophilia treatment centres: a case-control study. Haemophilia 2003; 9: 292–97.CrossRefGoogle ScholarPubMed
125Roque, H, Funai, E, Lockwood, CJ, von Willebrand disease and pregnancy. J Matern Fetal Med 2000; 9: 257–66.Google Scholar
126Tosetto, A, Rodeghiero, F, Castaman, G, Goodeve, A, Federici, AB, Batlle, J et al. A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD). J Thromb Haemost 2006; 4: 766–73.CrossRefGoogle ScholarPubMed
127Demers, C, Derzko, C, David, M, Douglas, J. Gynaecological and obstetric management of women with inherited bleeding disorders. Int J Gynaecol Obstet 2006; 95: 75–87.Google ScholarPubMed
128Kadir, RA. Women and inherited bleeding disorders: pregnancy and delivery. Semin Hematol 1999; 36: 28–35.Google ScholarPubMed
129Astedt, B, Nilsson, IM. Recurrent abruptio placentae treated with the fibrinolytic inhibitor tranexamic acid. Br Med J 1978; 1: 756–57.CrossRefGoogle ScholarPubMed
130Lindoff, C, Rybo, G, Astedt, B. Treatment with tranexamic acid during pregnancy, and the risk of thrombo-embolic complications. Thromb Haemost 1993; 70: 238–40.Google ScholarPubMed
131Ray, JG. DDAVP use during pregnancy: an analysis of its safety for mother and child. Obstet Gynecol Surv 1998; 53: 450–55.CrossRefGoogle ScholarPubMed
132Ray, JG, Boskovic, R, Knie, B, Hard, M, Portnoi, G, Koren, G. In vitro analysis of human transplacental transport of desmopressin. Clin Biochem 2004; 37: 10–13.CrossRefGoogle ScholarPubMed
133Chediak, JR, Alban, GM, Maxey, B. von Willebrand's disease and pregnancy: management during delivery and outcome of offspring. Am J Obstet Gynecol 1986; 155: 618–24.CrossRefGoogle ScholarPubMed
134Castillo, R, Monteagudo, J, Escolar, G, Ordinas, A, Magallon, M, Martin, VJ. Hemostatic effect of normal platelet transfusion in severe von Willebrand disease patients. Blood 1991; 77: 1901–905.CrossRefGoogle ScholarPubMed
135Rodeghiero, F, Castaman, G, Meyer, D, Mannucci, PM. Replacement therapy with virus-inactivated plasma concentrates in von Willebrand disease. Vox Sang 1992; 62: 193–99.Google ScholarPubMed
136Mannucci, PM. Platelet von Willebrand factor in inherited and acquired bleeding disorders. Proc Natl Acad Sci USA 1995; 92: 2428–432.CrossRefGoogle ScholarPubMed
137Cohen, S, Daitch, JS, Amar, D, Goldiner, PL. Epidural analgesia for labor and delivery in a patient with von Willebrand's disease. Reg Anesth 1989; 14: 95–97.Google Scholar
138Milaskiewicz, RM, Holdcroft, A, Letsky, E. Epidural anaesthesia and von Willebrand's disease. Anaesthesia 1990; 45: 462–64.CrossRefGoogle ScholarPubMed
139Butwick, AJ, Carvalho, B. Neuraxial anesthesia for cesarean delivery in a parturient with type 1 von Willebrand disease and scoliosis. J Clin Anesth 2007; 19: 230–33.CrossRefGoogle Scholar
140Moore, GC, Collins, P, Cumming, T, Laffan, M, Pasi, KJ, Lester, W. The management of von Willebrand disease during the peripartum period: a UK based survey. Haemophilia 2008; 14: 155.Google Scholar
141Schafer, AI. Effects of nonsteroidal antiinflammatory drugs on platelet function and systemic hemostasis. J Clin Pharmacol 1995; 35: 209–19.CrossRefGoogle ScholarPubMed
142Silwer, J. von Willebrand's disease in Sweden. Acta Paediatr Scand Suppl 1973; 238: 1–159.Google ScholarPubMed
143Nosek-Cenkowska, B, Cheang, MS, Pizzi, NJ, Israels, ED, Gerrard, JM. Bleeding/bruising symptomatology in children with and without bleeding disorders. Thromb Haemost 1991; 65: 237–241.Google ScholarPubMed
144Sramek, A, Eikenboom, JC, Briet, E, Vandenbroucke, JP, Rosendaal, FR. Usefulness of patient interview in bleeding disorders. Arch Intern Med 1995; 155: 1409–1415.CrossRefGoogle ScholarPubMed