Prenatal diagnosis for haemophilia: A nationwide survey among female carriers in the Netherlands

Haemophilia

Volumn 18, Issue 4, 2012, Pages 584-592

  Balak, D M W ^a   Gouw, S C ^a,b   Plug, I ^c   Mauser Bunschoten, E P ^d   Vriends, A H J T ^a   Van Diemen Homan, J E M ^a   Rosendaal, F R ^a   Van Der Bom, J G ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

Amniocentesis; Carriers; Chorionic villus biopsy; Foetal gender determination; Reproductive choices; Termination of pregnancy

Indexed keywords

ADULT; AMNIOCENTESIS; ARTICLE; CROSS-SECTIONAL STUDY; DECISION MAKING; DISEASE CARRIER; DISEASE SURVEILLANCE; DISEASE TRANSMISSION; FEMALE; FIRST TRIMESTER PREGNANCY; HEMOPHILIA; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; NETHERLANDS; OUTCOME ASSESSMENT; PLACENTAL TRANSFER; POLYMERASE CHAIN REACTION; PREGNANCY; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PREVALENCE; PRIORITY JOURNAL; ULTRASOUND;

ADULT; CHOICE BEHAVIOR; FEMALE; HEMOPHILIA A; HEMOPHILIA B; HETEROZYGOTE; HUMANS; NETHERLANDS; PREGNANCY; PRENATAL DIAGNOSIS; QUESTIONNAIRES;

EID: 84863194806     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2011.02742.x     Document Type: Article

References (28)

1. Mannucci PM, Tuddenham EG. The hemophilias - from royal genes to gene therapy. N Engl J Med 2001; 344: 1773-9.
2. Bolton-Maggs PH, Pasi KJ. Haemophilias A and B. Lancet 2003; 361: 1801-9.
3. Graw J, Brackmann HH, Oldenburg J, Schneppenheim R, Spannagl M, Schwaab R. Haemophilia A: from mutation analysis to new therapies. Nat Rev Genet 2005; 6: 488-501.
4. Mannucci PM. Back to the future: a recent history of haemophilia treatment. Haemophilia 2008; 14(Suppl. 3): 10-8.
5. Meijer K, Bouman K, Sollie KM, Tamminga RY, van der Meer J. [Management of pregnancy and childbirth in carriers of haemophilia]. Ned Tijdschr Geneeskd 2008; 152: 1249-53.
6. Leebeek FWG, Page-Christiaens GCML, Vriends AHJT, Mauser-Bunschoten EP. Draagsters van hemofilie: bloedingsneiging, prenatale diagnostiek, zwangerschap en bevalling. In: Leebeek FWG, Mauser-Bunschoten EP eds. Richtlijn en behandeling van hemofilie en aanverwante hemostasestoornisse. Alphen aan den Rijn: Van Zuiden Communications B.V, 2009: 39-49.
7. Tabor A, Alfirevic Z. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 2010; 27: 1-7.
8. Ljung RC. Prenatal diagnosis of haemophilia. Haemophilia 1999; 5: 84-7.
9. Lee CA, Chi C, Pavord SR et al. 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.
10. Honda H, Miharu N, Ohashi Y et al. Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum. Hum Genet 2002; 110: 75-9.
11. Rijnders RJ, Van Der Luijt RB, Peters ED et al. Earliest gestational age for fetal sexing in cell-free maternal plasma. Prenat Diagn 2003; 23: 1042-4.
12. Chi 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.
13. Varekamp I, Suurmeijer TP, Brocker-Vriends AH et al. Carrier testing and prenatal diagnosis for hemophilia: experiences and attitudes of 549 potential and obligate carriers. Am J Med Genet 1990; 37: 147-54.
14. Tedgard U. Carrier testing and prenatal diagnosis of haemophilia - utilisation and psychological consequences. Haemophilia 1998; 4: 365-9.
15. Kadir RA, Sabin CA, Goldman E, Pollard D, Economides DL, Lee CA. Reproductive choices of women in families with haemophilia. Haemophilia 2000; 6: 33-40.
16. Coppola A, Cerbone AM, Mancuso G, Mansueto MF, Mazzini C, Zanon E. Confronting the psychological burden of haemophilia. Haemophilia 2011; 17: 21-7.
17. Plug I, Mauser-Bunschoten EP, Brocker-Vriends AH et al. Bleeding in carriers of hemophilia. Blood 2006; 108: 52-6.
18. Sramek A, Eikenboom JC, Briet E, Vandenbroucke JP, Rosendaal FR. Usefulness of patient interview in bleeding disorders. Arch Intern Med 1995; 155: 1409-15.
19. White GC 2nd, Rosendaal F, Aledort LM, Lusher JM, Rothschild C, Ingerslev J. Definitions in hemophilia. Recommendation of the scientific subcommittee on factor VIII and factor IX of the scientific and standardization committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost 2001; 85: 560.
20. Rothman KJ. No adjustments are needed for multiple comparisons. Epidemiology 1990; 1: 43-6.
21. Tedgard U, Ljung R, McNeil TF. Reproductive choices of haemophilia carriers. Br J Haematol 1999; 106: 421-6.
22. Kadir RA, Economides DL, Braithwaite J, Goldman E, Lee CA. The obstetric experience of carriers of haemophilia. Br J Obstet Gynaecol 1997; 104: 803-10.
23. Chi C, Lee CA, Shiltagh N, Khan A, Pollard D, Kadir RA. Pregnancy in carriers of haemophilia. Haemophilia 2008; 14: 56-64.
24. Santacroce R, Vecchione G, Tomaiyolo M et al. Identification of fetal gender in maternal blood is a helpful tool in the prenatal diagnosis of haemophilia. Haemophilia 2006; 12: 417-22.
25. Bustamante-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 haemophilia in the foetuses of female carriers. Haemophilia 2008; 14: 593-8.
26. Lavery S. Preimplantation genetic diagnosis: new reproductive options for carriers of haemophilia. Haemophilia 2004; 10(Suppl. 4): 126-32.
27. Lavery S. Preimplantation genetic diagnosis of haemophilia. Br J Haematol 2009; 144: 303-7.
28. Wright CF, Chitty LS. Cell-free fetal DNA and RNA in maternal blood: implications for safer antenatal testing. BMJ 2009; 339: b2451.