Robustness of factor assays following cordocentesis in the prenatal diagnosis of haemophilia and other bleeding disorders

Haemophilia

Volumn 13, Issue 2, 2007, Pages 172-177

  Shetty, S ^a   Ghosh, Kanjaksha ^a  

^a KEM HOSPITAL   (India)

Author keywords

Coagulation disorders; Fetal blood sampling; Haemophilia

Indexed keywords

BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 7; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9; VON WILLEBRAND FACTOR;

ARTICLE; BLEEDING DISORDER; BLOOD CLOTTING DISORDER; BLOOD CLOTTING FACTOR 10 DEFICIENCY; BLOOD CLOTTING FACTOR 7 DEFICIENCY; BLOOD SAMPLING; CONTROLLED STUDY; CORDOCENTESIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DISEASE CARRIER; DNA DETERMINATION; ENZYME LINKED IMMUNOSORBENT ASSAY; FETUS; FOLLOW UP; HEMOPHILIA; HEMOPHILIA A; HEMOPHILIA B; HUMAN; MAJOR CLINICAL STUDY; PATIENT SAFETY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; UMBILICAL CORD BLOOD; VON WILLEBRAND DISEASE;

BLOOD COAGULATION FACTORS; CORDOCENTESIS; DNA; FEMALE; FETAL BLOOD; HEMORRHAGIC DISORDERS; HUMANS; POLYMERASE CHAIN REACTION; PREGNANCY; PREGNANCY COMPLICATIONS, HEMATOLOGIC; PRENATAL DIAGNOSIS; SENSITIVITY AND SPECIFICITY;

EID: 33846903378     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2006.01431.x     Document Type: Article

References (33)

1. Enayat MS, Karimi M, Chana G, Farjadian S, Theophilus BD, Hill FG. Mutation analysis in F9 gene of 17 families with haemophilia B from Iran. Haemophilia 2004; 10: 751-5.
2. Berber E, Leggo J, Brown C, Gallo N, Feilotter H, Lillicrap D. DNA microarray analysis for the detection of mutations in haemophilia bA. J Thromb Haemost 2006; 4: 1756-62.
3. Shetty S, Ghosh K, Pathare A, Colah R, Badakere S, Mohanty D. Factor VIII and IX gene polymorphisms and carrier analysis in Indian population. Am J Haematol 1997; 54: 271-5.
4. Chowdhury MR, Tiwari M, Kabra M, Menon PS. Prenatal diagnosis in hemophilia A using factor VIII gene polymorphisms - Indian experience. Ann Hematol 2003; 82: 427-30.
5. Jayandharan G, Shaji RV, George B, Chandy M, Srivastava A. Informativeness of linkage analysis for genetic diagnosis of haemophilia A in Indian population. Haemophilia 2004; 10: 533-9.
6. ICMR. Collaborative Study on Haemophilia: An ICMR Task Force Project. New Delhi: ICMR, 1990.
7. Hopkins EL, Carey J, Moye R. Amniocentesis and fetoscopy. Prog Clin Biol Res 1982; 98: 27-45.
8. Nicolaides P, Nicolini U, Fisk NM, Tannirandorn Y, Nasrat H, Rodeck CH. Fetal blood sampling from the intrahepatic vein for rapid karyotyping in the second and third trimesters. Br J Radiol 1991; 64: 505-9.
9. Antsakils AJ, Papantoniou NE, Mesogitis SA, Koutra PT, Vintzleos AM, Aravantinos DI. Cardiocentesis: An alternative method of fetal blood sampling for the prenatal diagnosis of hemoglobinopathies. Obstet Gynecol 1992; 79: 630-3.
10. Rodeck CH, Nicolini U. Fetal blood sampling. Eur J Obstet Gynecol Reprod Biol 1988; 28: 85-9.
11. Ludomirski A, Nemiroff R, Johnson A, Ashmead GG, Weiner S, Bolognese RJ. Percutaneous umbilical blood sampling. A new technique for prenatal diagnosis. J Reprod Med 1987; 32: 276-9.
12. Fairweather DVI, Ward RHT, Modell B. Obstetric aspects of midtrimester fetal blood sampling by needling or fetoscopy. Br J Obstet Gynaecol 1980; 87: 87-92.
13. Wand RH, Modell B, Fairweather DV, Shirley IM, Richards BA, Heatherington CP. Obstetric outcome and problems of midtrimester fetal blood sampling for antenatal diagnosis. Br J Obstet Gynaecol 1981; 88: 1073-80.
14. Hobbins JC, Grannum PA, Romero R, Reece EA, Mahoney MJ. Percutaneous umbilical blood sampling. Am J Obstet Gynaecol 1985; 152: 1-6.
15. Hogge WA, Thiagarajah S, Brenbridge AN, Harbert GM. Fetal evaluation by percutaneous blood sampling. Am J Obstet Gynaecol 1988; 158: 132-6.
16. Dacie JV, Lewis SM. Practical Haematology, 8th edn. Edinburgh, UK: Churchill Livingstone, 1999.
17. Trasi S, Mohanty D, Pathare A, Shetty S, Ghosh K. Von Willebrand factor 1 and factor 2 alleles (intron 40) are suitable markers for carrier detection in von Willebrand disease families in the Indian population. Acta Haematol 2006; 115: 64-7.
18. Shetty S, Ghosh K, Mohanty D. St 14 (DXS52) VNTR polymorphism in the Indian population and its application in carrier detection and prenatal diagnosis of haemophilia A families. Haematologia (Budap) 2000; 30: 203-7.
19. Liu Q, Nozari GG, Sommer SS. Single tube polymerase chain reaction for rapid diagnosis of the inversion hotspot mutation in haemophilia A. Blood 1998; 92: 1458-9.
20. Shetty S, Pathare A, Ghosh K, Jijina F, Mohanty D. Intron 22 inversions in factor VIII gene in Indian hemophiliacs. Thromb Haemost 1998; 79: 881
21. Bagnall RD, Waseem N, Green PM, Gianelli F. Recurrent inversion breaking introns 1 of the factor VIII gene as a frequent cause of severe haemophilia A. Blood 2002; 99: 168-74.
22. Peake IR, Lillicrap DP, Boulyjenkov E et.al. Report of a joint WHO/WFH meeting on the control of haemophilia: Carrier detection and antenatal diagnosis. Blood Coagul Fibrinolysis 1993; 4: 313-44.
23. Tizzano E, Vencesla A, Cornet M, Baena M, Baiget M. Utility of a (GT) dinucleotide repeat in intron 1 of the factor 8 gene for haemophilia A carrier diagnosis. Haemophilia 2005; 11: 142-4.
24. Costa JM, Ernault P, Vidaud D, Vidaud M, Meyer D, Lavergne JM. Fast and efficient detection method using multiplex PCR and cycle sequencing - application to haemophilia B. Thromb Haemost 2000; 83: 244-7.
25. Shetty S, Ghosh K, Mohanty D. Direct detection of factor IX gene deletions in Indian haemophiliacs by multiplex PCR. Eur J Haematol 2003; 71: 233-4.
26. Forestier F, Daffos F, Sole Y, Rainaut M. Prenatal diagnosis of haemophilia by fetal blood sampling under ultrasound guidance. Haemostasis 1986; 16: 346-51.
27. Daffos F, Forestier F, Kaplan C, Cox W. Prenatal diagnosis and management of bleeding disorders with fetal blood sampling. Am J Obstet Gynaecol 1988; 158: 939-46.
28. Vidal F, Farssac E, Altisent C, Puig L, Gallardo D. Rapid haemophilia A molecular diagnosis by a simple DNA sequencing procedure: Identification of 14 novel mutations. Thromb Haemost 2001; 85: 580-3.
29. Jacot FR, Poulin C, Bilodeau AP et al. A five year experience with second trimester induced abortions: No increase in complication rate as compared to the first trimester. Am J Obstet Gynecol 1993; 168: 633-7.
30. Wadhera S, Miller WJ. Second trimester abortions: Trends and medical complications. Health Rep 1994; 6: 441-54.
31. Elias S, Simpson JL. Amniocentesis. In: Milunsky A, Ed. Genetic Disorders and the Fetus, 2nd edn. New York: Plenum Press, 1986; 44-8.
32. Nagy GR, Ban Z, sipos F, Beke A, Papp C, Papp Z. Isolation of epsilon- haemoglobin-chain positive fetal cells with micromanipulation for fetal diagnosis. Prenat Diagn 2005; 25: 398-402.
33. Hellani A, Coskun S, Benkhalifa M et al. Multiple displacement amplification on single cell and possible PGD applications. Mol Hum Reprod 2004; 10: 847-52.