A rapid prenatal diagnosis of hemophilia A by DNA analysis on crude chorionic villus biopsy.

نویسندگان

  • M Acquila
  • M P Bicocchi
  • F Bottini
  • D Caprino
  • O Bonifacino
  • P G Mori
چکیده

1. Byrd JC, Edenfield WJ, Shields DJ, Dawson NA. Extramedullary myeloid cell tumors in acute nonlymphocytic leukemia: a clinical review. J Clin Oncol 1995; 13:1800-16. 2. Cassi E, Tosi A, De Paoli A, et al. Granulocytic sarcoma without evidence of acute leukemia: two cases of unusual localisation (uterus and breast) and one case with bone localisation. Haematologica 1984; 69:464-6. 3. Martinelli G, Vianelli N, De Vivo A, et al. Granulocytic sarcomas: clinical, diagnostic and therapeutical aspects. Leuk Lymphoma 1997; 24:349-53. 4. Clavio M, Carrara P, Miglino M, et al. High efficacy of fludarabine-containing therapy (FLAG-FLANG) in poor risk acute myeloid leukemia. Haematologica 1996; 5138. 5. Nachbaur D, Duba HC, Feichtinger H, et al. Polychemotherapy combined with G-CSF-mobilized donor buffy coat transfusion for granulocytic sarcoma after allogeneic BMT for AML. Bone Marrow Transplant 1997; 19:947-9. 6. Martinelli G, Remiddi C, Visani G, et al. Molecular analysis of PML-RARa fusion mRNA detected by reverse transcription-polymerase chain reaction assay in long term disease free acute promyelocytic leukemia patients. Br J Haematol 1995; 90:966-8. 7. Martinelli G, Testoni N, Montefusco V, et al. Detection of bcr-abl transcript in chronic myelogenous leukemia patients by reverse-polymerase chain reaction and capillary electrophoresis. Haematologica 1998; 83:593601. 8. Claxton DF, Liu P, Hsu HB, et al. Detection of fusion transcript generated by the inversion 16 chromosome in acute myelogenous leukemia. Blood 1994; 83:1750. 9. Laczika K, Novak M, Hilgarth B, et al. Competitive CBFb/MYH11 reverse-transcriptase polymerase chain reaction for quantitative assessment of minimal residual disease during post-remission therapy in acute myeloid leukemia with inversion(16): a pilot study. J Clin Oncol 1998; 16:1519-25. 10. Krishnan K. Neural cell-adhesion molecule (CD 56)positive, t(8;21) acute myeloid leukemia (AML, M2) and granulocytic sarcoma. Ann Hematol 1994; 69:3213.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

I-41: Chorionic Villus Sampling (CVS): An Invasive Method for Prenatal Diagnosis

Background: Chorionic villus sampling(CVS) has a major role in prenatal diagnosis . It is an invasive diagnostic method in completion of primary prenatal screenings. This article is a report of our 8 years experience of CVS in Mashhad. Materials and Methods: We have done 1511 cases of invasive diagnostic procedure including 723 CVS which were included in our study and also 788 cases of amniocen...

متن کامل

Prenatal diagnosis in a haemophilia A family by both factor VIII activity and antigen measurements.

With the advent of molecular biology techniques prenatal diagnosis in haemophilia A is generally being performed by first trimester chorionic villus sampling followed by the DNA analysis using various polymorphic markers of factor VIII gene. Here we report antenatal diagnosis in a haemophilia A family performed in the second trimester by measuring both factor VIII:C and factor VIII:Ag in the fe...

متن کامل

QF-PCR: application, overview and review of the literature.

Quantitative fluorescent polymerase chain reaction has been in diagnostic use in the UK for over 10 years and has proved to be a cost-effective, robust and accurate rapid prenatal test for common aneuploidies. Specific advantages include detection of triploidy, mosaicism and maternal cell contamination. Its application at our centre is described, with developments including stand-alone testing ...

متن کامل

Chorionic villus sampling for the diagnosis of beta thalassemia in the first trimester of pregnancy in southwest Iran

Background and aim: Beta thalassemia is one of the most common hereditary disorders in Iran. The aim of this study is to improve the quality of life of couples with thalassemia and prenatal diagnosis of thalassemia major through the chorionic villus sampling technique. Methods: This prospective study was conducted on couples suffering from thalassemia minor who referred to Narges Genetics Labo...

متن کامل

First trimester prenatal diagnosis of beta-thalassaemia following chorionic villus sampling.

DNA analysis for the diagnosis of beta-thalassaemia is a relatively new technique in Malaysia. This, combined with chorionic villus sampling, has enabled us to offer prenatal diagnosis in the first trimester for this common condition. To the best of our knowledge, this has not hitherto been reported in Malaysia.

متن کامل

Non-invasive fetal sex diagnosis in plasma of early weeks pregnants using droplet digital PCR

Background: Fetal sex determination is useful for families at risk of X-linked disorders, such as Duchenne muscular dystrophy, adrenal hypoplasia, hemophilia. At first, this could be obtained through invasive procedures such as amniocentesis and chorionic villus sampling, having a 1% risk of miscarriage. Since the discovery of cell-free fetal DNA (cffDNA) in maternal plasma, noninvasive prenata...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Haematologica

دوره 84 4  شماره 

صفحات  -

تاریخ انتشار 1999