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Management of hereditary disorders of blood clotting during pregnancy
HEALTH OF WOMAN. 2017.5(121):102–127; doi 10.1111/1471-0528.14592
Pavord S, Rayment R, Madan B, Cumming T, Lester W, Chalmers E, Myers B, Maybury H, Tower C, Kadir R
Manual 71 (together with UKHCDO)
April 2017
Green-top Guideline No. 71. BJOG 2017; DOI: 10.1111 / 1471-0528.14592.
Abridged version
Https://www.rcog.org.uk/en/guidelines-research-services/guidelines/gtg71/
References
1. Bowen DJ. 2002. Haemophilia A and haemophilia B: molecular insights. Mol Pathol 55:127–44. https://doi.org/10.1136/mp.55.2.127; https://doi.org/10.1136/mp.55.1.1; PMid:11950963 PMCid:PMC1187163
2. Wacey AI, Tuddenham EG. 1998. Mutation databases on the Web. J Med Genet 35:529–33. https://doi.org/10.1136/jmg.35.7.529
3. De Brasi C, El-Maarri O, Perry DJ, Oldenburg J, Pezeshkpoor B, Goodeve A. 2014. Genetic testing in bleeding disorders. Haemophilia 20;4:54–8. https://doi.org/10.1111/hae.12409; PMid:24762276 PMCid:PMC4274362
4. Kasper CK, Lin JC. 2007. Prevalence of sporadic and familial haemophilia. Haemophilia 13:90–2. https://doi.org/10.1111/j.1365-2516.2006.01397.x; PMid:17212731
5. Richards M, Williams M, Chalmers E, Liesner R, Collins P, Vidler V et al. 2010. A United Kingdom Haemophilia Centre Doctors’ Organization guideline approved by the British Committee for Standards in Haematology: guideline on the use of prophylactic factor VIII concentrate in children and adults with severe haemophilia A. Br J Haematol 149:498–507. https://doi.org/10.1111/j.1365-2141.2010.08139.x; PMid:20230411
6. Miesbach W, Alesci S, Geisen C, Oldenburg J. 2011. Association between phenotype and genotype in carriers of haemophilia A. Haemophilia 17:246–51. https://doi.org/10.1111/j.1365-2516.2010.02426.x; PMid:21118332
7. Iorio A, Halimeh S, Holzhauer S, Goldenberg N, Marchesini E, Marcucci M et al. 2010. Rate of inhibitor development in previously untreated hemophilia A patients treated with plasma-derived or recombinant factor VIII concentrates: a systematic review. J Thromb Haemost 8:1256–65. https://doi.org/10.1111/j.1538-7836.2010.03823.x; PMid:20345722
8. Plug I, Mauser-Bunschoten EP, Brocker-Vriends AH, van Amstel HK, van der Bom JG, van Diemen-Homan JE et al. 2006. Bleeding in carriers of hemophilia. Blood 108:52–6. https://doi.org/10.1182/blood-2005-09-3879; PMid:16551972
9. Renault NK, Dyack S, Dobson MJ, Costa T, Lam WL, Greer WL. 2007. Heritable skewed X-chromosome inactivation leads to haemophilia A expression in heterozygous females. Eur J Hum Genet 15:628–37. https://doi.org/10.1038/sj.ejhg.5201799; PMid:17342157
10. Orstavik KH, Scheibel E, Ingerslev J, Schwartz M. 2000. Absence of correlation between X chromosome inactivation pattern and plasma concentration of factor VIII and factor IX in carriers of haemophilia A and B. Thromb Haemost 83:433–7. PMid:10744150
11. Chi C, Lee CA, Shiltagh N, Khan A, Pollard D, Kadir RA. 2008. Pregnancy in carriers of haemophilia. Haemophilia 14:56–64. PMid:17941828
12. Sachs BP, Acker D, Tuomala R, Brown E. 1987. The incidence of symptomatic intracranial hemorrhage in term appropriate for gestation age infants. Clin Pediatr (Phila) 26:355–8. https://doi.org/10.1177/000992288702600706; PMid:3595041
13. Hanigan WC, Powell FC, Miller TC, Wright RM. 1995. Symptomatic intracranial haemorrhage in full-term infants. Childs Nerv Syst 11:698–707. https://doi.org/10.1007/BF00262235; PMid:8750952
14. Towner D, Castro MA, Eby-Wilkens E, Gilbert WM. 1999. Effect of mode of delivery in nulliparous women on neonatal intracranial injury. N Engl J Med 341:1709–14. https://doi.org/10.1056/NEJM199912023412301; PMid:10580069
15. Hughes CA, Harley EH, Milmoe G, Bala R, Martorella A. 1999. Birth trauma in the head and neck. Arch Otolaryngol Head Neck Surg 125:193–9. https://doi.org/10.1001/archotol.125.2.193; PMid:10037286
16. Mosavat SA, Zamani M. 2008. The incidence of birth trauma among live born term neonates at a referral hospital in Rafsanjan, Iran. J Matern Fetal Neonatal Med 21:337–9. https://doi.org/10.1080/14767050801927921; PMid:18446662
17. Ljung RC, Sjorin E. 1999. Origino fmutationinsporadiccasesof haemophilia A. Br J Haematol 106:870–4. https://doi.org/10.1046/j.1365-2141.1999.01631.x
18. Yoffe G, Buchanan GR. 1988. Intracranial hemorrhage in newborn and young infants with hemophilia. J Pediatr 113:333–6. https://doi.org/10.1016/S0022-3476(88)80277-4
19. Klinge J, Auberger K, Auerswald G, Brackmann HH, Mauz-Korholz C, Kreuz W. 1999. Prevalence and outcome of intracranial haemorrhage in haemophiliacs a survey of the paediatric group of the German Society of Thrombosis and Haemostasis (GTH). Eur J Pediatr 158; 3:S162–5. https://doi.org/10.1007/PL00014346; PMid:10650860
20. Revel-Vilk S, Golomb MR, Achonu C, Stain AM, Armstrong D, Barnes MA et al. 2004. Effect of intracranial bleeds on the health and quality of life of boys with hemophilia. J Pediatr 144:490–5. https://doi.org/10.1016/j.jpeds.2003.12.016; PMid:15069398
21. MacLean PE, Fijnvandraat K, Beijlevelt M, Peters M. 2004. The impact of unaware carriership on the clinical presentation of haemophilia. Haemophilia 10:560–4. https://doi.org/10.1111/j.1365-2516.2004.00955.x; PMid:15357784
22. Tarantino MD, Gupta SL, Brusky RM. 2007. The incidence and outcome of intracranial haemorrhage in newborns with haemophilia: analysis of the Nationwide Inpatient Sample database. Haemophilia 13:380–2. https://doi.org/10.1111/j.1365-2516.2007.01492.x; PMid:17610551
23. Kulkarni R, Soucie JM, Lusher J, Presley R, Shapiro A, Gill J et al. 2009. Haemophilia Treatment Center Network Investigation. Sites of initial bleeding episodes, mode of delivery and age of diagnosis in babies with haemophilia diagnosed before the age of 2 years: a report from The Centers for Disease Control and Prevention’s (CDC) Universal Data Collection (UDC) project. Haemophilia 15:1281–90. https://doi.org/10.1111/j.1365-2516.2009.02074.x; PMid:19637999
24. Kenet G, Chan AKC, Soucie JM, Kulkarni R. 2010. Bleeding disorders in neonates. Haemophilia 16;5:168–75. https://doi.org/10.1111/j.1365-2516.2010.02316.x; PMid:20590877
25. Richards M, Lavigne Lissalde G, Combescure C, Batorova A, Dolan G, Fischer K et al. 2012. European Haemophilia Treatment and Standardization Board. Neonatal bleeding in haemophilia: a European cohort study. Br J Haematol 156:374–82. https://doi.org/10.1111/j.1365-2141.2011.08967.x; PMid:22146054
26. Davies J, Kadir RA. 2016. Mode of delivery and cranial bleeding in newborns with haemophilia: a systematic review and meta- analysis of the literature. Haemophilia 22:32–8. https://doi.org/10.1111/hae.12726; PMid:25990680
27. Chalmers E, Williams M, Brennand J, Liesner R, Collins P, Richards M. 2011. Paediatric Working Party of United Kingdom Haemophilia Doctors’ Organization. Guideline on the management of haemophilia in the fetus and neonate. Br J Haematol 154:208–15. https://doi.org/10.1111/j.1365-2141.2010.08545.x; PMid:21554256
28. Kulkarni R, Ponder KP, James AH, Soucie JM, Koerper M, Hoots WK et al. 2006. Unresolved issues in diagnosis and management of inherited bleeding disorders in the perinatal period: a White Paper of the Perinatal Task Force of the Medical and Scientific Advisory Council of the National Hemophilia Foundation, USA. Haemophilia 12:205–11. https://doi.org/10.1111/j.1365-2516.2006.01277.x; PMid:16643202
29. Maternal obesity and maternal health. www.noo.org.uk/NOO_about_ obesity/maternal_obesity/maternalhealth. Accessed 2015 Oct 7.
30. NHS England. Clinical Commissioning Policy: Pre-implantation Genetic Diagnosis (PGD). Leeds: NHS England. 2014. www. england. nhs.uk/ wp-content/ uploads/ 2014/04/ e01-med-gen-0414.pdf. Accessed 2016 Jun 15.
31. Fernandez RM, Pecina A, Sanchez B, Lozano-Arana MD, Garcіa-Lozano JC, Perez-Garrido R et al. 2015. Experience of preimplantation genetic diagnosis for hemophilia at the University Hospital Virgen Del Rocío in Spain: technical and clinical overview. Biomed Res Int 2015:406096.
32. Kadir RA, Sabin CA, Goldman E, Pollard D, Economides DL, Lee CA. 2000. Reproductive choices of women in families with haemophilia. Haemophilia 6:33–40. https://doi.org/10.1046/j.1365-2516.2000.00353.x; PMid:10632739
33. Tengborn L, Blomback M, Berntorp E. 2015. Tranexamicacid anold drug still going strong and making a revival. Thromb Res 135:231–42. https://doi.org/10.1016/j.thromres.2014.11.012; PMid:25559460
34. Mannucci PM, Canciani MT, Rota L, Donovan BS. 1981. Response of factor VIII/von Willebrand factor to DDAVP in healthy subjects and patients with haemophilia A and von Willebrand’s disease. Brit J Haematol 47:283–93. https://doi.org/10.1111/j.1365-2141.1981.tb02789.x
35. Kaufmann JE, Vischer UM. 2003. Cellular mechanisms of the hemostatic effects of desmopressin (DDAVP). J Thromb Haemost 1:682–9. https://doi.org/10.1046/j.1538-7836.2003.00190.x
36. Leissinger C, Carcao M, Gill JC, Journeycake J, Singleton T, Valentino L. 2014. Desmopressin (DDAVP) in the management of patients with congenital bleeding disorders. Haemophilia 20:158–67. https://doi.org/10.1111/hae.12254; PMid:23937614
37. Trigg DE, Stergiotou I, Peitsidis P, Kadir RA. 2012. A systematic review: The use of desmopressin for treatment and prophylaxis of bleeding disorders in pregnancy. Haemophilia 18:25–33. https://doi.org/10.1111/j.1365-2516.2011.02573.x; PMid:21624012
38. Street AM, Ljung R, Lavery SA. 2008. Management of carriers and babies with haemophilia. Haemophilia 14;3:181–7. https://doi.org/10.1111/j.1365-2516.2008.01721.x; PMid:18510540
39. Abdul-Kadir R, Davies J, Halimeh S, Chi C. 2013. Advances in pregnancy management in carriers of hemophilia. J Appl Hematol 4:125. https://doi.org/10.4103/1658-5127.127894
40. Mannucci PM. 2005. Use of desmopressin (DDAVP) during early pregnancy in factor VIII-deficient women. Blood 105:3382. https://doi.org/10.1182/blood-2004-11-4472; PMid:15802549
41. Kno€fler R, Koscielny J, Tauer JT, Huhn B, Gneuss A, Kuhlisch E et al. 2012. Desmopressin testing in haemophilia A patients and carriers: results of a multi centre survey. Hamostaseologie 32:271–5. https://doi.org/10.5482/HAMO-12-06-0012; PMid:22940861
42. Dunkley SM, Russell SJ, Rowell JA, Barnes CD, Baker RI, Sarson MI et al. 2009. Australian Haemophilia Centre Directors’ Organisation. A consensus statement on the management of pregnancy and delivery in women who are carriers of or have bleeding disorders. Med J Aust 191:460–3. PMid:19835544
43. Grootscholten K, Kok M, Oei SG, Mol BW, van der Post JA. 2008. External cephalic version-related risks: a meta-analysis. Obstet Gynecol 112:1143–51. https://doi.org/10.1097/AOG.0b013e31818b4ade; PMid:18978117
44. Kok M, Cnossen J, Gravendeel L, van der Post J, Opmeer B, Mol BW. 2008. Clinical factors to predict the outcome of external cephalic version: a metaanalysis. Am J Obstet Gynecol 199:630.e1–7; discussion e1–5.
45. Altisent C, Martorell M, Vidal F, Sanchez MA, Parra R. 2011. The optimal mode of delivery for the haemophilia carrier expecting an affected infant: further considerations. Haemophilia 17:818–9. https://doi.org/10.1111/j.1365-2516.2011.02505.x
46. Ljung R. 2010. The optimal mode of delivery for the haemophilia carrier expecting an affected infant is vaginal delivery. Haemophilia 16:415–9. PMid:19925629
47. Madan B, Street AM. 2010. What is the optimal mode of delivery for the haemophilia carrier expecting an affected infant-vaginal delivery or caesarean delivery. Haemophilia 16:425–6. https://doi.org/10.1111/j.1365-2516.2010.02238.x; PMid:20536994
48. James AH, Hoots K. 2010. The optimal mode of delivery for the haemophilia carrier expecting an affected infant is caesarean delivery. Haemophilia 16:420–4. PMid:20028425
49. Ljung R, Lindgren AC, Petrini P, Tengborn L. 1994. Normal vaginal delivery is to be recommended for hemophilia carrier gravidae. Acta Paediatr 83:609–11. https://doi.org/10.1111/j.1651-2227.1994.tb13090.x; PMid:7919757
50. Nazir HF, Al Lawati T, Beshlawi I, AlSharidah S, Elshinawy M, Alkasim F et al. 2016. Mode of delivery and risk of intracranial haemorrhage in newborns with severe haemophilia A: a multicentre study in Gulf region. Haemophilia 22:e134–8. https://doi.org/10.1111/hae.12842; PMid:26561042
51. Kletzel M, Miller CH, Becton DL, Chadduck WM, Elser JM. 1989. Postdelivery head bleeding in hemophilic neonates. Causes and management. Am J Dis Child 143:1107–10. https://doi.org/10.1001/archpedi.1989.02150210143035; PMid:2773889
52. Kadir RA, Economides DL, Braithwaite J, Goldman E, Lee CA. 1997. The obstetric experience of carriers of haemophilia. Br J Obstet Gynecol 104:803–10. https://doi.org/10.1111/j.1471-0528.1997.tb12024.x
53. Royal College of Obstetricians and Gynaecologists. Caesarean Section. Consent Advice 7. London. RCOG. 2009.
54. Marshall NE, Fu R, Guise JM. 2011. Impact of multiple cesarean deliveries on maternal morbidity: a systematic review. Am J Obstet Gynecol 205:262.e1–8. https://doi.org/10.1016/j.ajog.2011.06.035; PMid:22071057
55. Hansen AK, Wisborg K, Uldbjerg N, Henriksen TB. 2008. Risk of respiratory morbidity in term infants delivered by elective caesarean section: cohort study. BMJ 336:85–7. https://doi.org/10.1136/bmj.39405.539282.BE; PMid:18077440 PMCid:PMC2190264
56. Morrison JJ, Rennie JM, Milton PJ. 1995. Neonatal respiratory morbidity and mode of delivery at term: influence of timing of elective caesarean section. Br J Obstet Gynaecol 102:101–6. https://doi.org/10.1111/j.1471-0528.1995.tb09060.x; PMid:7756199
57. Smith GC, Wood AM, White IR, Pell JP, Cameron AD, Dobbie R. 2004. Neonatal respiratory morbidity at term and the risk of childhood asthma. Arch Dis Child 89:956–60. https://doi.org/10.1136/adc.2003.045971; PMid:15383441 PMCid:PMC1719687
58. Boulvain M, Marcoux S, Bureau M, Fortier M, Fraser W. 2001. Risks of induction of labour in uncomplicated term pregnancies. Paediatr Perinat Epidemiol 15:131–8. https://doi.org/10.1046/j.1365-3016.2001.00337.x; PMid:11383577
59. Arrowsmith S, Wray S, Quenby S. 2011. Maternal obesity and labour complications following induction of labour in prolonged pregnancy. BJOG 118:578–88. https://doi.org/10.1111/j.1471-0528.2010.02889.x; PMid:21265999 PMCid:PMC3085126
60. Modanlou H, Smith E, Paul RH, Hon EH. 1973. Complications of fetal blood sampling during labor. The pediatrician should always be informed when scalp samples have been taken. Clin Pediatr (Phila) 12:603–6. https://doi.org/10.1177/000992287301201109
61. Sabir H, Stannigel H, Schwarz A, Hoehn T. 2010. Perinatal hemorrhagic shock after fetal scalp blood sampling. Obstet Gynecol 115:419–20. https://doi.org/10.1097/AOG.0b013e3181c51aeb; PMid:20093865
62. Cheng YW, Hopkins LM, Caughey AB. 2004. How long is too long: does a prolonged second stage of labor in nulliparous women affect maternal and neonatal outcomes. Am J Obstet Gynecol 191:933–8. https://doi.org/10.1016/j.ajog.2004.05.044; PMid:15467567
63. Gilad O, Merlob P, Stahl B, Klinger G. 2014. Outcome following tranexamic acid exposure during breastfeeding. Breastfeed Med 9:407–10. https://doi.org/10.1089/bfm.2014.0027; PMid:25025926
64. Cook TM, Counsell D, Wildsmith JA. 2009. Royal College of Anaesthetists Third National Audit Project. Major complications of central neuraxial block: report on the Third National Audit Project of the Royal College of Anaesthetists. Br J Anaesth 102:179–90. https://doi.org/10.1093/bja/aen360; PMid:19139027
65. Ruppen W, Derry S, McQuay HJ, Moore RA. 2006. Incidence of epidural haematoma and neurological injury in cardiovascular patients with epidural analgesia/anaesthesia: systematic review and meta-analysis. BMC Anesthesiol 6:10. https://doi.org/10.1186/1471-2253-6-10; PMid:16968537 PMCid:PMC1586186
66. Choi S, Brull R. 2009. Neuraxial techniques in obstetric and non- obstetric patients with common bleeding diatheses. Anesth Analg 109:648–60. https://doi.org/10.1213/ane.0b013e3181ac13d1; PMid:19608843
67. Working Party;.Association of Anaesthetists of Great Britain & Ireland; Obstetric Anaesthetists’ Association; Regional Anaesthesia UK. Regional anaesthesia and patients with abnormalities of coagulation: the Association of Anaesthetists of Great Britain & Ireland, The Obstetric Anaesthetists’ Association, Regional Anaesthesia UK. Anaesthesia 2013. 68:966–72. https://doi.org/10.1111/anae.12359; PMid:23905877
68. Evans D, Shaw A. 1990. Safety of intramuscular injection of hepatitis B vaccine in haemophiliacs. Br Med J 300:1694–5. https://doi.org/10.1136/bmj.300.6741.1694-a
69. Novikova N, Hofmeyr GJ, Cluver C. 2015. Tranexamic acid for preventing postpartum haemorrhage. Cochrane Database Syst Rev (6):CD007872. https://doi.org/10.1002/14651858.CD007872.pub3
70. Sentilhes L, Lasocki S, Ducloy-Bouthors AS, Deruelle P, Dreyfus M, Perrotin F et al. 2015. Tranexamic acid for the prevention and treatment of postpartum haemorrhage. Br J Anaesth 114:576–87. https://doi.org/10.1093/bja/aeu448; PMid:25571934
71. Peitsidis P, Kadir RA. 2011. Antifibrinolytic therapy with tranexamic acid in pregnancy and postpartum. Expert Opin Pharmacother 12:503–16. https://doi.org/10.1517/14656566.2011.545818; PMid:21294602
72. Stoof SC, van Steenbergen HW, Zwagemaker A, Sanders YV, Cannegieter SC, Duvekot JJ et al. 2015. Primary postpartum haemorrhage in women with von Willebrand disease or carriership of haemophilia despite specialised care: a retrospective survey. Haemophilia 21:505–12. https://doi.org/10.1111/hae.12635; PMid:25688733
73. Royal College of Obstetricians and Gynaecologists. Prevention and Management of Postpartum Haemorrhage. Green-top Guideline 52. London. RCOG. 2009.
74. Chi C, Shiltagh N, Kingman CE, Economides DL, Lee CA, Kadir RA. 2006. Identification and management of women with inherited bleeding disorders: a survey of obstetricians and gynaecologists in the United Kingdom. Haemophilia 12:405–12. https://doi.org/10.1111/j.1365-2516.2006.01282.x; PMid:16834742
75. Chi C, Bapir M, Lee CA, Kadir RA. 2010. Puerperal loss (lochia) in women with or without inherited bleeding disorders. Am J Obstet Gynecol 203:56.e1–5. https://doi.org/10.1016/j.ajog.2010.02.042; PMid:20417483
76. Andrew M, Paes B, Milner R, Johnston M, Mitchell L, Tollefsen DM et al. 1988. Development of the human coagulation system in the healthy premature infant. Blood 72:1651–7. PMid:3179444
77. Kulkarni R, Lusher J. 2001. Perinatal management of newborns with haemophilia. Br J Haematol 112:264–74. https://doi.org/10.1046/j.1365-2141.2001.02362.x; PMid:11167818
78. Jшrgensen FS, Felding P, Vinther S, Andersen GE. 1991. Vitamin K to neonates. Peroral versus intramuscular administration. Acta Paediatr Scand 80:304–7. https://doi.org/10.1111/j.1651-2227.1991.tb11853.x
79. Sadler JE, Mannucci PM, Berntorp E, Bochkov N, Boulyjenkov V, Ginsburg D et al. 2000. Impact, diagnosis and treatment of von Willebrand disease. Thromb Haemost 84:160–74. PMid:10959685
80. Ng C, Motto DG, Di Paola J. 2015. Diagnostic approach to von Willebrand disease. Blood 125:2029–37. https://doi.org/10.1182/blood-2014-08-528398; PMid:25712990 PMCid:PMC4375103
81. Laffan MA, Lester W, O’Donnell JS, Will A, Tait RC, Goodeve A et al. 2014. The diagnosis and management of von Willebrand disease: a United Kingdom Haemophilia Centre Doctors Organization guideline approved by the British Committee for Standards in Haematology. Br J Haematol 167:453–65. https://doi.org/10.1111/bjh.13064; PMid:25113304 PMCid:PMC4283483
82. Eikenboom J, Van Marion V, Putter H, Goodeve A, Rodeghiero F, Castaman G et al. 2006. Linkage analysis in families diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of type 1 VWD. J Thromb Haemost 4:774–82. https://doi.org/10.1111/j.1538-7836.2006.01823.x; PMid:16634746
83. James PD, Paterson AD, Notley C, Cameron C, Hegadorn C, Tinlin S et al. 2006. Genetic linkage and association analysis in type 1 von Willebrand disease: results from the Canadian type 1 VWD study. J Thromb Haemost 4:783–92. https://doi.org/10.1111/j.1538-7836.2006.01860.x; PMid:16634747
84. Goodeve A, Eikenboom J, Castaman G, Rodeghiero F, Federici AB, Batlle J et al. 2007. 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 109:112–21. Erratum 2008. 111:3299–300. https://doi.org/10.1182/blood-2006-05-020784; PMid:16985174
85. Ranger A, Manning RA, Lyall H, Laffan MA, Millar CM. 2012. Pregnancy in type 2B VWD: a case series. Haemophilia 18:406–12. https://doi.org/10.1111/j.1365-2516.2011.02691.x; PMid:22077376
86. Biguzzi E, Siboni SM, Ossola MW, Zaina B, Migliorini AC, Peyvandi F. 2015. Management of pregnancy in type 2B von Willebrand disease: case report and literature overview. Haemophilia 21:e98–103. https://doi.org/10.1111/hae.12580; PMid:25431025
87. Kasatkar P, Shetty S, Ghosh K. 2014. Prenatal diagnosis in severe von Willebrand disease families from India using combination of phenotypic and genotypic assays. Prenat Diagn 34:377–81. https://doi.org/10.1002/pd.4315; PMid:24390653
88. Stirling Y, Woolf L, North WR, Seghatchian MJ, Meade TW. 1984. Haemostasis in normal pregnancy. Thromb Haemost 52:176–82. PMid:6084322
89. Ramasahoye BH, Davies SV, Dasani H, Pearson JF. 1995. Obstetric management in von Willebrand’s disease: a report of 24 pregnancies and a review of the literature. Haemophilia 1:140–4. https://doi.org/10.1111/j.1365-2516.1995.tb00056.x; PMid:27214325
90. Conti M, Mari D, Conti E, Muggiasca ML, Mannucci PM. 1986. Pregnancy in women with different types of von Willebrand disease. Obstet Gynecol 68:282–5. PMid:3090493
91. Kadir RA, Lee CA, Sabin CA, Pollard D, Economides DL. 1998. Pregnancy in women with von Willebrand’s disease or factor XI deficiency. Br J Obstet Gynaecol 105:314–21. https://doi.org/10.1111/j.1471-0528.1998.tb10093.x; PMid:9532993
92. Huq FY, Kulkarni A, Agbim EC, Riddell A, Tuddenham E, Kadir RA. 2012. Changes in the levels of factor VIII and von Willebrand factor in the puerperium. Haemophilia 18:241–5. https://doi.org/10.1111/j.1365-2516.2011.02625.x; PMid:21951573
93. Sanchez-Luceros A, Meschengieser SS, Marchese C, Votta R, Casais P, Woods AI et al. 2003. Factor VIII and von Willebrand factor changes during normal pregnancy and puerperium. Blood Coagul Fibrinolysis 14:647–51. https://doi.org/10.1097/00001721-200310000-00005; PMid:14517489
94. Mahieu B, Jacobs N, Mahieu S, Naelaerts K, Vertessen F, Weyler J et al. 2007. Haemostatic changes and acquired activated protein C resistance in normal pregnancy. Blood Coagul Fibrinolysis 18:685–8. https://doi.org/10.1097/MBC.0b013e3282f09835; PMid:17890957
95. Kjellberg U, Andersson NE, Rosen S, Tengborn L, Hellgren M. 2003. Factor VIII and von Willebrand factor changes during normal pregnancy and puerperium. Blood Coagul Fibrinolysis 14:647–51. https://doi.org/10.1097/00001721-200310000-00005
96. James AH, Jamison MG. 2007. Bleeding events and other complications during pregnancy and childbirth in women with von Willebrand disease. J Thromb Haemost 5:1165–9. https://doi.org/10.1111/j.1538-7836.2007.02563.x; PMid:17403089
97. Andrew M, Paes B, Milner R, Johnson M, Mitchell L, Tollefsen DM et al. 1987. Development of the human coagulation system in the full- term infant. Blood 70:165–72. PMid:3593964
98. Labarque V, Stain AM, Blanchette V, Kahr WH, Carcao MD. 2013. Intracranial haemorrhage in von Willebrand disease: a report of six cases. Haemophilia 19:602–6. https://doi.org/10.1111/hae.12142; PMid:23556472
99. Chalmers E, Alamelu J, Collins P, Mathias M, Payne J, Richards M et al. 2015. on behalf of the Paediatric and Rare Disorders Working Parties of UKHCDO. Intracranial haemorrhage in children with inherited bleeding disorders in the UK 2003–2013. J Thromb Haemost 13 Suppl 2:243.
100. Sanders YV, Giezenaar MA, Laros-van Gorkom BA, Meijer K, van der Bom JG, Cnossen MH et al. 2014. WiN study group. von Willebrand disease and aging: an evolving phenotype. J Thromb Haemost 12:1066–75. https://doi.org/10.1111/jth.12586; PMid:24750783
101. Rodegheiro F, Tosetto A, Abshire T, Arnold DM, Coller B, James P et al. 2010. ISTH/SSC joint VWF and Perinatal /Pediatric Hemostasis Subcommittees Working Group. ISTH/SSC bleeding assessment tool: a standardised questionnaire and a proposal for a new bleeding score for inherited bleeding disorders. J Thromb Haemost 8:2063–5. https://doi.org/10.1111/jth.12586; PMid:24750783
102. Rydz N, James PD. 2012. The evolution and value of bleeding assessment tools. J Thromb Haemost 10:2223–9. https://doi.org/10.1111/j.1538-7836.2012.04923.x; PMid:22974079 PMCid:PMC3893309
103. Chen YC, Chao TY, Cheng SN, Hu SH, Lius JY. 2008. Prevalence of von Willebrand disease in women with iron deficiency anaemia and menorrhagia in Taiwan. Haemophilia 14:768–74. https://doi.org/10.1111/j.1365-2516.2008.01777.x; PMid:18498402
104. Rae C, Furlong W, Horsman J, Pullenayegum E, Demers C, St-Louis J et al. 2013. Bleeding disorders, menorrhagia and iron deficiency: impacts on health-related quality of life. Haemophilia 19:385–91. https://doi.org/10.1111/hae.12014; PMid:22994803 PMCid:PMC4171051
105. Leone G, Moneta E, Paparatti G, Boni P. 1975. Letter: Von Willebrand’s disease in pregnancy. N Engl J Med 293:456. https://doi.org/10.1056/NEJM197508282930918; PMid:1080256
106. Castaman G, Tosetto A, Rodeghiero F. 2010. Pregnancy and delivery in women with von Willebrand’s disease and different von Willebrand factor mutations. Haematologica 95:963–9. https://doi.org/10.3324/haematol.2009.011239; PMid:19951969 PMCid:PMC2878795
107. Ray JG. 1998. DDAVP use during pregnancy: an analysis of its safety for mother and child. Obstet Gynecol Surv 53:450–5. https://doi.org/10.1097/00006254-199807000-00025; PMid:9662731
108. Rodeghiero F, Castaman G, Di Bona E, Ruggeri M. 1989. Consistency of responses to repeated DDAVP infusions in patients with von Willebrand’s disease and hemophilia A. Blood 74:1997–2000. PMid:2804344
109. Castaman G, Rodeghiero F, Tosetto A, Cappelletti A, Baudo F, Eikenboom JC et al. 2006. Hemorrhagic symptoms and bleeding risk in obligatory carriers of type 3 von Willebrand disease: an international, multicenter study. J Thromb Haemost 4:2164–9. https://doi.org/10.1111/j.1538-7836.2006.02070.x; PMid:16999850
110. Holmberg L, Nilsson IM, Borge L, Gunnarson M, Sjo€rin E. 1983. Platelet aggregation induced by 1-desamino-8-D-arginine vasopressin (DDAVP) in Type IIB von Willebrand’s disease. N Engl J Med 309:816–21. https://doi.org/10.1056/NEJM198310063091402; PMid:6412139
111. Bond L, Bevan D. 1988. Myocardial infarction in a patient with hemophilia treated with DDAVP. N Engl J Med 318:121. https://doi.org/10.1056/NEJM198801143180215
112. Bymes JJ, Lacarda A, Moake JL. 1988. Thrombosis following desmopressin for uremic bleeding. Am J Hematol 28:63–5. https://doi.org/10.1002/ajh.2830280115
113. Mannucci PM, Bettega D, Cattaneo M. 1992. Patterns of development of tachyphylaxis in patients with haemophilia and von Willebrand disease after repeated doses of desmopressin (DDAVP). Br J Haematol 82:87–93. https://doi.org/10.1111/j.1365-2141.1992.tb04598.x; PMid:1419807
114. Goudemand J, Negrier C, Ounnoughene N, Sultan Y. 1998. Clinical management of patients with von Willebrand’s disease with a VHP VWF concentrate: the French experience. Haemophilia 4;3:48–52. https://doi.org/10.1046/j.1365-2516.1998.0040s3048.x
115. Borel-Derlon A, Federici AB, Roussel-Robert V, Goudemand J, Lee CA, Scharrer I et al. 2007. Treatment of severe von Willebrand disease with a high-purity von Willebrand factor concentrate (Wilfactin): a prospective study of 50 patients. J Thromb Haemost 5:1115–24. https://doi.org/10.1111/j.1538-7836.2007.02562.x; PMid:17403090
116. Federici AB, Mannucci PM, Castaman G, Baronciani L, Bucciarelli P, Canciani MT et al. 2009. 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 113:526–34. https://doi.org/10.1182/blood-2008-04-152280; PMid:18805962
117. Nichols WL, Hultin MB, James AH, Manco-Johnson MJ, Montgomery RR, Ortel TL et al. 2008. von Willebrand disease (VWD): evidence-based diagnosis and management guidelines, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA). Haemophilia 14:171–232. https://doi.org/10.1111/j.1365-2516.2007.01643.x; PMid:18315614
118. Chi C, Lee CA, England A, Hingorani J, Paintsil J, Kadir RA. 2009. Obstetric analgesia and anaesthesia in women with inherited bleeding disorders. Thromb Haemost 101:1104–11. https://doi.org/10.1160/TH08-10-0694
119. Silwer J. 1973. von Willebrand’s disease in Sweden. Acta Paediatr Scand Suppl 238:1–159. PMid:4550005
120. Cyklo-f 500 mg film coated tablets. www.medicines.org.uk/emc/ medicine/27753. Accessed 2015, Oct 7.
121. Faculty of Sexual and Reproductive Healthcare. Clinical Guidance. Contraception After Pregnancy. London, FSRH. 2017.
122. Mannucci PM, Duga S, Peyvandi F. 2004. Recessively inherited coagulation disorders. Blood 104:1243–52. https://doi.org/10.1182/blood-2004-02-0595; PMid:15138162
123. Mumford AD, Ackroyd S, Alikhan R, Bowles L, Chowdary P, Grainger J et al. 2014. BCSH Committee. Guideline for the diagnosis and management of the rare coagulation disorders: a United Kingdom Haemophilia Centre Doctors’ Organization guideline on behalf of the British Committee for Standards in Haematology. Br J Haematol 167:304–26. https://doi.org/10.1111/bjh.13058; PMid:25100430
124. Peyvandi F, Duga S, Akhavan S, Mannucci PM. 2002. Rare coagulation deficiencies. Haemophilia 8:308–21. https://doi.org/10.1046/j.1365-2516.2002.00633.x; PMid:12010428
125. Seligsohn U. 1993. Factor XI deficiency. Thromb Haemost 70:68–71. PMid:8236117
126. Seligsohn U. 1978. High gene frequency of factor XI (PTA) deficiency in Ashkenazi Jews. Blood 51:1223–8. PMid:647126
127. Shpilberg O, Peretz H, Zivelin A, Yatuv R, Chetrit A, Kulka T et al. 1995. One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews. Blood 85:429–32. PMid:7811996
128. Tavori S, Brenner B, Tatarsky I. 1990. The effect of combined factor XI deficiency with von Willebrand factor abnormalities on haemorrhagic diathesis. Thromb Haemost 63:36–8. PMid:2111046
129. Bolton-Maggs PH, Patterson DA, Wensley RT, Tuddenham EG. 1995. Definition of the bleeding tendency in factor XI-deficient kindreds—a clinical and laboratory study. Thromb Haemost 73:194–202. PMid:7792729
130. Von dem Borne PA, Bajzar L, Meijers JC, Nesheim ME, Bouma BN. 1997. Thrombin-mediated activation of factor XI results in a thrombin-activatable fibrinolysis inhibitor-dependent inhibition of fibrinolysis. J Clin Invest 99:2323–7. https://doi.org/10.1172/JCI119412; PMid:9153272 PMCid:PMC508069
131. Peyvandi F, Palla R, Menegatti M, Siboni SM, Halimeh S, Faeser B et al. 2012. Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders. J Thromb Haemost 10:615–21. https://doi.org/10.1111/j.1538-7836.2012.04844.x; https://doi.org/10.1111/j.1538-7836.2012.04653.x; PMid:22321862
132. Salomon O, Steinberg DM, Seligshon U. 2006. Variable bleeding manifestations characterize different types of surgery in patients with severe factor XI deficiency enabling parsimonious use of replacement therapy. Haemophilia 12:490–3. https://doi.org/10.1111/j.1365-2516.2006.01304.x; PMid:16919078
133. Bolton-Maggs PH, Young Wan-Yin B, McCraw AH, Slack J, Kernoff PB. 1988. Inheritance and bleeding in factor XI deficiency. Br J Haematol 69:521–8. https://doi.org/10.1111/j.1365-2141.1988.tb02409.x; PMid:3408688
134. Bolton-Maggs PH. 2009. Factor XI deficiency–resolving the enigma. Hematology. Am Soc Hematol Educ Program 1:97–105. https://doi.org/10.1182/asheducation-2009.1.97
135. Hellgren M, Blomback M. 1981. Studies on blood coagulation and fibrinolysis in pregnancy, during delivery and in the puerperium. Gynecol Obstet Invest 12:141–54. https://doi.org/10.1159/000299596; PMid:7239349
136. Myers B, Pavord S, Kean L, Hill M, Dolan G. 2007. Pregnancy outcome in Factor XI deficiency: incidence of miscarriage, antenatal and postnatal haemorrhage in 33 women with Factor XI deficiency. BJOG 114:643–6. https://doi.org/10.1111/j.1471-0528.2007.01296.x; PMid:17439571
137. Salomon O, Steinberg DM, Tamarin I, Zivelin A, Seligsohn U. 2005. Plasma replacement therapy during labor is not mandatory for women with severe factor XI deficiency. Blood Coagul Fibrinolysis 16:37–41. https://doi.org/10.1097/00001721-200501000-00006; PMid:15650544
138. Chi C, Kulkarni A, Lee CA, Kadir RA. 2009. The obstetric experience of women with factor XI deficiency. Acta Obstet Gynecol Scand 88:1095–100. https://doi.org/10.1080/00016340903144238; PMid:19685354
139. Myers B, Neal R, Curry N, Kadir R, Pavord S. Blood group, bleeding phenotype and post-partum haemorrhage in factor XI-deficient women. International Society on Thrombosis and Haemostasis 2015 Congress, 20–25 June 2015. Toronto, Canada. Poster 175.
140. Bolton-Maggs PH, Colvin BT, Satchi G, Lee CA, Lucas GS. 1994. Thrombogenic potential of factor XI concentrate. Lancet 344:748–9. https://doi.org/10.1016/S0140-6736(94)92237-3
141. Mannucci PM, Bauer KA, Santagostino E, Faioni E, Barzegar S, Coppola R et al. 1994. Activation of the coagulation cascade after infusion of a factor XI concentrate in congenitally deficient patients. Blood 84:1314–9. PMid:8049446
142. Bolton-Maggs P, Goudemand J, Hermans C, Makris M, de Moerloose P. 2014. FXI concentrate use and the risk of thrombosis. Haemophilia 20:e349–51. https://doi.org/10.1111/hae.12457; PMid:24785157
143. Riddell A, Abdul-Kadir R, Pollard D, Tuddenham E, Gomez K. 2011. Monitoring low dose recombinant factor VIIa therapy in patients with severe factor XI deficiency undergoing surgery. Thromb Haemost 106:521–7. https://doi.org/10.1160/TH10-12-0816; PMid:21833443
144. Salomon O, Zivelin A, Livnat T, Dardik R, Loewenthal R, Avishai O et al. 2003. Prevalence, causes, and characterization of factor XI inhibitors in patients with inherited factor XI deficiency. Blood 101:4783–8. https://doi.org/10.1182/blood-2002-09-2794; PMid:12586617
145. Livnat T, Tamarin I, Mor Y, Winckler H, Horowitz Z, Korianski Y et al. 2009. Recombinant activated factor VII and tranexamic acid are haemostatically effective during major surgery in factor XI- deficient patients with inhibitor antibodies. Thromb Haemost 102:487–92. https://doi.org/10.1160/TH09-03-0172
146. Ginsberg SS, Clyne LP, McPhedran P, Duffy TP, Hanson T. 1993. Successful childbirth by a patient with congenital factor XI deficiency and an acquired inhibitor. Br J Haematol 84:172–4. https://doi.org/10.1111/j.1365-2141.1993.tb03044.x; PMid:8338772
147. Bolton–Maggs PH. 2008. Treatment of Hemophilia: Factor XI deficiency and its management. 3rd ed. Montr´eal, Qu´ebec: World Federation of Hemophilia. www.exodontia.info/files/Treatment_of_H_mophilia_2008._Factor_XI_Deficiency_Its_Mana gement.pdf. Accessed 2016 Jul 26.
148. O’Connell NM, Pascoe GM, Riddell AR, Brown SA, Perry DJ, Lee CA. 2002. Prevention of surgical bleeding with recombinant factor VIIa in patients with factor XI deficiency. Blood 100:697a.
149. Lee CA, Chi C, Pavord SR, Bolton-Maggs PH, Pollard DA, Hinchcliffe-Wood A et al. 2006. 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 12:301–36. https://doi.org/10.1111/j.1365-2516.2006.01314.x; PMid:16834731
150. Singh A, Harnett MJ, Connors JM, Camann WR. 2009. Factor XI deficiency and obstetrical anesthesia. Anesth Analg 108:1882–5. https://doi.org/10.1213/ane.0b013e3181a28715; PMid:19448217
151. Reuveni A, Orbach-Zinger S, Eidelman LA, Ginosar Y, Ioscovich A. 2013. Peripartum anesthetic management of patients with Factor XI deficiency. J Perinat Med 42:295–300.
152. Bolton-Maggs PH, Perry DJ, Chalmers EA, Parapia LA, Wilde JT, Williams MD et al. 2004. The rare coagulation disorders—review with guidelines for management from the United Kingdom Haemophilia Centre Doctors’ Organisation. Haemophilia 10:593–628. https://doi.org/10.1111/j.1365-2516.2004.00944.x; PMid:15357789
153. Herrmann FH, Auerswald G, Ruiz-Saez A, Navarrete M, Pollmann H, Lopaciuk S et al. 2006. Greifswald Factor X Deficiency Study Group. Factor X deficiency: clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor 10 gene. Haemophilia 12:479–89. https://doi.org/10.1111/j.1365-2516.2006.01303.x; PMid:16919077
154. Palla R, Peyvandi F, Shapiro AD. 2015. Rare bleeding disorders: diagnosis and treatment. Blood 125:2052–61. https://doi.org/10.1182/blood-2014-08-532820; PMid:25712993
155. Acharya SS, Coughlin A, Dimichele DM. 2004. North American Rare Bleeding Disorder Study Group. Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. J Thromb Haemost 2:248–56. https://doi.org/10.1111/j.1538-7836.2003.t01-1-00553.x; PMid:14995986
156. Ivaskevicius V, Biswas A, Bevans C, Schroeder V, Kohler HP, Rott H et al. 2010. Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function. Haematologica 95:956–62. https://doi.org/10.3324/haematol.2009.017210; PMid:20179087 PMCid:PMC2878794
157. Kulkarni AA, Lee CA, Kadir RA. 2006. Pregnancy in women with congenital factor VII deficiency. Haemophilia 12:413–6. https://doi.org/10.1111/j.1365-2516.2006.01219.x; https://doi.org/10.1111/j.1365-2516.2006.01287.x; PMid:16834743
158. Konje JC, Murphy P, de Chazal R, Davidson A, Taylor D. 1994. Severe factor X deficiency and successful pregnancy. Br J Obstet Gynecol 101:910–1. https://doi.org/10.1111/j.1471-0528.1994.tb13557.x
159. Condie RG. 1976. A serial study of coagulation factors XII, XI and X in plasma in normal pregnancy and in pregnancy complicated by pre-eclampsia. Br J Obstet Gynaecol 83:636–9. https://doi.org/10.1111/j.1471-0528.1976.tb00902.x; PMid:952795
160. Sharief LA, Kadir RA. 2013. Congenital factor XIII deficiency in women: a systematic review of literature. Haemophilia 19:e349–57. https://doi.org/10.1111/hae.12259; PMid:23992439
161. Tran HT, Sørensen B, Rea CJ, Bjørnsen S, Ueland T, Pripp AH et al. 2014. Tranexamic acid as adjunct therapy to bypassing agents in haemophilia A patients with inhibitors. Haemophilia 20:369–75. https://doi.org/10.1111/hae.12318; PMid:24251535
162. Mariani G, Herrmann FH, Dolce A, Batorova A, Etro D, Peyvandi F et al. 2005. International Factor VII Deficiency Study Group. Clinical phenotypes and factor VII genotype in congenital factor VII deficiency. Thromb Haemost 93:481–7. PMid:15735798
163. Catanzarite VA, Novotny WF, Cousins LM, Schneider JM. 1997. Pregnancies in a patient with congenital absence of prothrombin activity: case report. Am J Perinatol 14:135–8. https://doi.org/10.1055/s-2007-994113; PMid:9259914
164. Peyvandi F, Mannucci PM. 1999. Rare coagulation disorders. Thromb Haemost 82:1207–14. PMid:10544899
165. Lak M, Sharifian R, Peyvandi F, Mannucci PM. 1998. Symptoms of inherited factor V deficiency in 35 Iranian patients. Br J Haematol 103:1067–9. https://doi.org/10.1046/j.1365-2141.1998.01077.x; PMid:9886321
166. Noia G, De Carolis S, De Stefano V, Ferrazzani S, De Santis L, Carducci B et al. 1997. Factor V deficiency in pregnancy complicated by Rh immunization and placenta previa. A case report and review of the literature. Acta Obstet Gynecol Scand 76:890–2. https://doi.org/10.3109/00016349709024374; PMid:9351421
167. Keeling D, Tait C, Makris M. 2008. Guideline on the selection and use of therapeutic products to treat haemophilia and other hereditary bleeding disorders. A United Kingdom Haemophilia Centre Doctors’ Organisation (UKHCDO) guideline approved by the British Committee for Standards in Haematology. Haemophilia 14:671–84. https://doi.org/10.1111/j.1365-2516.2008.01695.x
168. Girolami A, Scandellari R, Lombardi AM, Girolami B, Bortoletto E, Zanon E. 2005. Pregnancy and oral contraceptives in factor V deficiency: a study of 22 patients (five homozygotes and 17 heterozygotes) and review of the literature. Haemophilia 11:26–30. https://doi.org/10.1111/j.1365-2516.2005.01056.x; PMid:15660985
169. Coppola A, Maruotti GM, Feola G, Catalano A, Quaglia F, Tomaiuolo M et al. 2010. Management of patients with factor V deficiency: open issues from the challenging history of a woman with anaphylactic transfusion reactions. Haemophilia 16:560–3. PMid:20028426
170. Di Paola J, Nugent D, Young G. 2001. Current therapy for rare factor deficiencies. Haemophilia 7; 1:16–22. https://doi.org/10.1046/j.1365-2516.2001.00100.x
171. Herrmann FH, Wulff K, Auerswald G, Schulman S, Astermark J, Batorova A et al. 2009. Greifswald Factor FVII Deficiency Study Group. Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene. Haemophilia 15:267–80. https://doi.org/10.1111/j.1365-2516.2008.01910.x; PMid:18976247
172. Bernardi F, Dolce A, Pinotti M, Shapiro AD, Santagostino E, Peyvandi F et al. 2009. International Factor VII Deficiency Study Group. Major differences in bleeding symptoms between factor VII deficiency and hemophilia B. J Thromb Haemost 7:774–9. https://doi.org/10.1111/j.1538-7836.2009.03329.x; PMid:19245420
173. Di Minno MN, Dolce A, Mariani G. 2013. STER Study Group. Bleeding symptoms at disease presentation and prediction of ensuing bleeding in inherited FVII deficiency. Thromb Haemost 109:1051–9. https://doi.org/10.1160/TH12-10-0740; PMid:23571462
174. Fadel HE, Krauss JS. 1989. Factor VII deficiency and pregnancy. Obstet Gynecol 73:453–4. https://doi.org/10.1016/0020-7292(89)90244-0
175. Kadir R, Chi C, Bolton-Maggs P. 2009. Pregnancy and rare bleeding disorders. Haemophilia 15:990–1005. https://doi.org/10.1111/j.1365-2516.2009.01984.x; PMid:19298378
176. Baumann Kreuziger LM, Morton CT, Reding MT. 2013. Is prophylaxis required for delivery in women with factor VII deficiency. Haemophilia 19:827–32. https://doi.org/10.1111/hae.12167; PMid:23607277 PMCid:PMC3769463
177. Girolami A, Randi ML, Ruzzon E, Lombardi AM, Girolami B, Fabris F. 2006. Pregnancy and oral contraceptives in congenital bleeding disorders of the vitamin K-dependent coagulation factors. Acta Haematol 115:58–63. https://doi.org/10.1159/000089467; PMid:16424651
178. Nance D, Josephson NC, Paulyson-Nunez K, James AH. 2012. Factor X deficiency and pregnancy: preconception counselling and therapeutic options. Haemophilia 18:e277–85. https://doi.org/10.1111/j.1365-2516.2011.02724.x; PMid:22151249
179. Kumar M, Mehta P. 1994. Congenital coagulopathies and pregnancy: report of four pregnancies in a factor X-deficient woman. Am J Hematol 46:241–4. https://doi.org/10.1002/ajh.2830460315; PMid:8192155
180. Burrows RF, Ray JG, Burrows EA. 2000. Bleeding risk and reproductive capacity among patients with factor XIII deficiency: a case presentation and review of the literature. Obstet Gynecol Surv 55:103–8. https://doi.org/10.1097/00006254-200002000-00024; PMid:10674253
181. Nugent D. 2012. Corifact TM/Fibrogammin P in the prophylactic treatment of hereditary factor XIII deficiency: results of a prospective, multicenter, open-label study. Thromb Res 130; 2:S12–4. https://doi.org/10.1016/S0049-3848(13)70005-7
182. Inbal A, Oldenburg J, Carcao M, Rosholm A, Tehranchi R, Nugent D. 2012. Recombinant factor XIII: a safe and novel treatment for congenital factor XIII deficiency. Blood 119:5111–7. https://doi.org/10.1182/blood-2011-10-386045; PMid:22451421
183. Asahina T, Kobayashi T, Takeuchi K, Kanayama N. 2007. Congenital blood coagulation factor XIII deficiency and successful deliveries: a review of the literature. Obstet Gynecol Surv 62:255–60. https://doi.org/10.1097/01.ogx.0000259176.03156.2b; PMid:17371605
184. Anwar R, Miloszewski KJ. 1999. Factor XIII deficiency. Br J Haematol 107:468–84. https://doi.org/10.1046/j.1365-2141.1999.01648.x; PMid:10583246
185. Mannucci PM. 2010. Bleeding symptoms in heterozygous factor XIII [corrected] deficiency. Haematologica 95:e6. https://doi.org/10.3324/haematol.2010.028969; PMid:20807981 PMCid:PMC2930978
186. Seligsohn U, Zivelin A, Zwang E. 1982. Combined factor V and factor VIII deficiency among non-Ashkenazi Jews. N Engl J Med 307:1191–5. https://doi.org/10.1056/NEJM198211043071907; PMid:6811896
187. Peyvandi F, Tuddenham EG, Akhtari AM, Lak M, Mannucci PM. 1998. Bleeding symptoms in 27 Iranian patients with the combined deficiency of factor V and factor VIII. Br J Haematol 100:773–6. https://doi.org/10.1046/j.1365-2141.1998.00620.x; PMid:9531348
188. Oukkache B, El Graoui O, Zafad S. 2012. Combined factor V and VIII deficiency and pregnancy. Int J Hematol 96:786–8. https://doi.org/10.1007/s12185-012-1201-z; PMid:23073620
189. Lak M, Keihani M, Elahi F, Peyvandi F, Mannucci PM. 1999. Bleeding and thrombosis in 55 patients with inherited afibrinogenaemia. Br J Haematol 107:204–6. https://doi.org/10.1046/j.1365-2141.1999.01681.x; PMid:10520042
190. Peyvandi F, Haertel S, Knaub S, Mannucci PM. 2006. Incidence of bleeding symptoms in 100 patients with inherited afibrinogenemia or hypofibrinogenemia. J Thromb Haemost 4:1634–7. https://doi.org/10.1111/j.1538-7836.2006.02014.x; PMid:16839371
191. Haverkate F, Samama M. 1995. Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. Thromb Haemost 73:151–61. PMid:7740487
192. Miesbach W, Scharrer I, Henschen A, Neerman-Arbez M, Spitzer S, Galanakis D. 2010. Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects. Blood Coagul Fibrinolysis 21:35–40. https://doi.org/10.1097/MBC.0b013e328331e6db; PMid:19923982
193. de Moerloose P, Casini A, Neerman-Arbez M. 2013. Congenital fibrinogen disorders: an update. Semin Thromb Hemost 39:585–95. https://doi.org/10.1055/s-0033-1349222; PMid:23852822
194. Shapiro SE, Phillips E, Manning RA, Morse CV, Murden SL, Laffan MA et al. 2013. Clinical phenotype, laboratory features and genotype of 35 patients with heritable dysfibrinogenaemia. Br J Haematol 160:220–7. https://doi.org/10.1111/bjh.12085; PMid:23061815
195. Goodwin TM. 1989. Congenital hypofibrinogenemia in pregnancy. Obstet Gynecol Surv 44:157–61. https://doi.org/10.1097/00006254-198903000-00001; PMid:2652009
196. Yamanaka Y, Takeuchi K, Sugimoto M, Sato A, Nakago S, Maruo T. 2003. Dysfibrinogenemia during pregnancy treated successfully with fibrinogen. Acta Obstet Gynecol Scand 82:972–3. https://doi.org/10.1034/j.1600-0412.2003.00211.x; PMid:12956852
197. Roque H, Stephenson C, Lee MJ, Funai EF, Popiolek D, Kim E et al. 2004. Pregnancy-related thrombosis in a woman with congenital afibrinogenemia: a report of two successful pregnancies. Am J Hematol 76:267–70. https://doi.org/10.1002/ajh.20110; PMid:15224364
198. Bornikova L, Peyvandi F, Allen G, Bernstein J, Manco-Johnson MJ. 2011. Fibrinogen replacement therapy for congenital fibrinogen deficiency. J Thromb Haemost 9:1687–704. https://doi.org/10.1111/j.1538-7836.2011.04424.x; PMid:21711446
199. Mensah P, Oppenheimer C, Watson C, Pavord S. 2011. Congenital afibrinogenaemia in pregnancy. Haemophilia 17:167–8. https://doi.org/10.1111/j.1365-2516.2010.02363.x; PMid:20695910
200. Munoz J, Schering J, Lambing A, Neal S, Goyert G, Green PM et al. 2012. The dilemma of inherited dysfibrinogenemia during pregnancy. Blood Coagul Fibrinolysis 23:775–7. https://doi.org/10.1097/MBC.0b013e328358e96d; PMid:23135383
201. Franchini M, Raffaelli R, Musola M, Memmo A, Poli G, Franchi M et al. 2007. Management of inherited dysfibrinogenemia during pregnancy: a description of four consecutive cases. Ann Hematol 86:693–4. https://doi.org/10.1007/s00277-007-0307-5; PMid:17492257
202. Lopez JA, Andrews RK, Afshar-Kharghan V, Berndt MC. 1998. Bernard-Soulier syndrome. Blood 91:4397–418. PMid:9616133
203. Prabu P, Parapia LA. 2006. Bernard-Soulier syndrome in pregnancy. Clin Lab Haematol 28:198–201. https://doi.org/10.1111/j.1365-2257.2006.00780.x; PMid:16706937
204. Bolton-Maggs PH, Chalmers EA, Collins PW, Harrison P, Kitchen S, Leisner RJ et al. 2006. A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO. Br J Haematol 135:603–33. https://doi.org/10.1111/j.1365-2141.2006.06343.x; PMid:17107346
205. Kunishima S, Kamiya T, Saito H. 2002. Genetic abnormalities of Bernard-Soulier syndrome. Int J Hematol 76:319–27. https://doi.org/10.1007/BF02982690; PMid:12463594
206. Harrison P, Mackie I, Mumford A, Briggs C, Liesner R, Winter M et al. 2011. Guidelines for the laboratory investigation of heritable disorders of platelet function. Br J Haematol 155:30–44. https://doi.org/10.1111/j.1365-2141.2011.08793.x; PMid:21790527
207. Peitsidis P, Datta T, Pafilis I, Otomewo O, Tuddenham EG, Kadir RA. 2010. Bernard Soulier syndrome in pregnancy: a systematic review. Haemophilia 16:584–91. https://doi.org/10.1111/j.1365-2516.2009.02137.x
208. Michalas S, Malamitsi-Puchner A, Tsevrenis H. 1984. Pregnancy and delivery in Bernard-Soulier syndrome. Acta Obstet Gynecol Scand 63:185–6. https://doi.org/10.3109/00016348409154659; PMid:6539555
209. Heslop HE, Hickton CM, Laird E, Tait JD, Doig JR, Beard EJ. 1986. Twin pregnancy and parturition in a patient with the Bernard Soulier syndrome. Scand J Haematol 37:71–3. https://doi.org/10.1111/j.1600-0609.1986.tb01774.x; PMid:3489980
210. Zafar S, Sultana S, Iqbal W, Bhatti FA, Khanam Akhtar KA, Muhammed A et al. 2007. Pregnancy Outcome in Bernard-Soulier Syndrome Complicated by Preeclampsia. J Turk Ger Gynecol Assoc 8:324–6.
211. Stroncek DF, Rebulla P. 2007. Platelet transfusions. Lancet 370:427–38. https://doi.org/10.1016/S0140-6736(07)61198-2
212. Waldenstrom E, Holmberg L, Axelsson U, Winqvist I, Nilsson IM. 1991. Bernard-Soulier syndrome in two Swedish families: effect of DDAVP on bleeding time. Eur J Haematol 46:182–7. https://doi.org/10.1111/j.1600-0609.1991.tb01274.x; PMid:1901273
213. Cattaneo M. 2002. Desmopressin in the treatment of patients with defects of platelet function. Haematologica 87:1122–4. PMid:12414337
214. Siddiq S, Clark A, Mumford A. 2011. A systematic review of the management and outcomes of pregnancy in Glanzmann thrombasthenia. Haemophilia 17:e 858–69.
215. Roberts HR, Monroe DM, White GC. 2004. The use of recombinant factor VIIa in the treatment of bleeding disorders. Blood 104:3858–64. https://doi.org/10.1182/blood-2004-06-2223; PMid:15328151
216. Coppola A, Di Minno G. 2008. Desmopressin in inherited disorders of platelet function. Haemophilia 14;1:31–9. https://doi.org/10.1111/j.1365-2516.2007.01607.x
217. Santoro C, Rago A, Biondo F, Conti L, Pulcinelli F, Laurenti L et al. 2010. Prevalence of allo-immunization anti-HLA and anti-integrin alphaIIbbeta3 in Glanzmann Thrombasthenia patients. Haemophilia 16:805–12. https://doi.org/10.1111/j.1365-2516.2010.02230.x; PMid:20345392
218. Ghevaert C, Campbell K, Stafford P, Metcalfe P, Casbard A, Smith GA et al. 2007. HPA-1a antibody potency and bioactivity do not predict severity of fetomaternal alloimmune thrombocytopenia. Transfusion 47:1296–305. https://doi.org/10.1111/j.1537-2995.2007.01273.x; PMid:17581167
219. Killie MK, Husebekk A, Kaplan C, Taaning E, Skogen B. 2007. Maternal human platelet antigen-1a antibody level correlates with the platelet count in the newborns: a retrospective study. Transfusion 47:55–8. https://doi.org/10.1111/j.1537-2995.2007.01063.x; PMid:17207230
220. Radder CM, Brand A, Kanhai HH. 2001. A less invasive treatment strategy to prevent intracranial hemorrhage in fetal and neonatal alloimmune thrombocytopenia. Am J Obstet Gynecol 185:683–8. https://doi.org/10.1067/mob.2001.116727; PMid:11568798
221. Pacheco LD, Berkowitz RL, Moise KJ Jr, Bussel JB, McFarland JG, Saade GR. 2011. Fetal and neonatal alloimmune thrombocytopenia: a management algorithm based on risk stratification. Obstet Gynecol 118:1157–63. https://doi.org/10.1097/AOG.0b013e31823403f4; PMid:22015886
222. Rayment R, Brunskill SJ, Soothill PW, Roberts DJ, Bussel JB, Murphy MF. 2011. Antenatal interventions for fetomaternal alloimmune thrombocytopenia. Cochrane Database Syst Rev (5):CD004226. https://doi.org/10.1002/14651858.CD004226.pub3
223. Seligsohn U, Mibashan RS, Rodeck CH, Nicolaides KH, Millar DS, Coller BS. 1985. Prenatal diagnosis of Glanzmann’s thrombasthenia. Lancet 28:1419. https://doi.org/10.1016/S0140-6736(85)92579-6
224. French DL, Coller BS, Usher S, Berkowitz R, Eng C, Seligsohn U et al. 1998. Prenatal diagnosis of Glanzmann thrombasthenia using the polymorphic markers BRCA1 and THRA1 on chromosome 17. Br J Haematol 102:582–7. https://doi.org/10.1046/j.1365-2141.1998.00798.x; PMid:9695977
225. Srivastava A, Usher S, Nelson EJ, Jayandharan G, Shaji RV, Chandy M et al. 2003. Prenatal diagnosis of Glanzmann thrombasthenia. Natl Med J India 16:207–8. PMid:14606769
226. van der Lugt NM, van Kampen A, Walther FJ, Brand A, Lopriore E. 2013. Outcome and management in neonatal thrombocytopenia due to maternal idiopathic thrombocytopenic purpura. Vox Sang 105:236–43. https://doi.org/10.1111/vox.12036
PMid:23782272
227. Alamelu J, Liesner R. 2010. Modern management of severe platelet function disorders. Br J Haematol 149:813–23. https://doi.org/10.1111/j.1365-2141.2010.08191.x; PMid:20456364
228. Devaney SA, Palomaki GE, Scott JA, Bianchi DW. 2011. Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis. JAMA 306:627–36. https://doi.org/10.1001/jama.2011.1114; PMid:21828326 PMCid:PMC4526182
229. Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM et al. 1998. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 62:768–75. https://doi.org/10.1086/301800; PMid:9529358 PMCid:PMC1377040
230. Hill M, Finning K, Martin P, Hogg J, Meaney C, Norbury G et al. 2011. Non-invasive prenatal determination of fetal sex: translating research into clinical practice. Clin Genet 80:68–75. https://doi.org/10.1111/j.1399-0004.2010.01533.x; PMid:20840219
231. Cutler J, Chappell LC, Kyle P, Madan B. 2013. Third trimester amniocentesis for diagnosis of inherited bleeding disorders prior to delivery. Haemophilia 19:904–7. https://doi.org/10.1111/hae.12247; PMid:23919291
232. Keeney S, Sempasa B, Sutherland M, Cumming A, Hay C, Nash M et al. 2014. Management of delivery options informed by third trimester amniocentesis for inherited bleeding disorders – a single centre experience. Br J Haematol 165;1:45. Abstract 103.
233. Geraedts G, De Wert GM. 2009. Preimplantation genetic diagnosis. Clin Genet 76:315–25. https://doi.org/10.1111/j.1399-0004.2009.01273.x; PMid:19793305
234. Michaelides K, Tuddenham EG, Turner C, Lavender B, Lavery SA. 2006. Live birth following the first mutation specific pre-implantation genetic diagnosis for haemophilia A. Thromb Haemost 95:373–9. https://doi.org/10.1160/TH05-08-0574
235. Sanchez-Garcia JF, Gallardo D, Navarro J, Marquez C, Gris JM, Sanchez MA et al. 2006. A versatile strategy for preimplantation genetic diagnosis of haemophilia A based on F8-gene sequencing. Thromb Haemost 96:839–45. https://doi.org/10.1160/TH06-05-069
236. Lavery S. 2009. Preimplantation genetic diagnosis of haemophilia. Br J Haematol 144:303–7. https://doi.org/10.1111/j.1365-2141.2008.07391.x; PMid:19036080
237. Laurie AD, Hill AM, Harraway JR, Fellowes AP, Phillipson GT, Benny PS et al. 2010. Preimplantation genetic diagnosis for hemophilia A using indirect linkage analysis and direct genotyping approaches. J Thromb Haemost 8:783–9. https://doi.org/10.1111/j.1538-7836.2010.03768.x; PMid:20102489
238. Tsui NB, Kadir RA, Chan KC, Chi C, Mellars G, Tuddenham EG et al. 2011. Noninvasive prenatal diagnosis of haemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood 117:3684–91. https://doi.org/10.1182/blood-2010-10-310789; PMid:21263151