Preimplantation genetic diagnosis, an alternative to conventional prenatal diagnosis of the hemoglobinopathies

Prenatal, noninvasive and preimplantation genetic diagnosis of inherited disorders: hemoglobinopathies.

Disorders of hemoglobin synthesis have been used as a prototype for the development of most approaches for prenatal diagnosis (PND). PND for hemoglobinopathies based on molecular analysis of trophoblast or amniocyte DNA has accumulated approximately 30 years of experience. Disadvantages with conventional PND include 'invasive' fetal sampling and the need to terminate affected ongoing pregnancie...

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چکیده ندارد.

The Primed In Situ (PRINS) Technique: An Alternative Approach for Preimplantation Chromosomal Diagnosis

Prenatal Diagnosis of β-Thalassemias and Hemoglobinopathies.

Prenatal diagnosis of β-thalassemia was accomplished for the first time in the 1970s by globin chain synthesis analysis on fetal blood obtained by placental aspiration at 18-22 weeks gestation. Since then, the molecular definition of the β-globin gene pathology, the development of procedures of DNA analysis, and the introduction of chorionic villous sampling have dramatically improved prenatal ...

Introduction to preimplantation genetic diagnosis

Preimplantation genetic diagnosis (PGD) was • fi rst applied in 1988 using a polymerase chain reaction (PCR) protocol to amplify a sequence on the Y chromosome for embryo sexing for patients carrying X-linked disease. Patients have to go through in vitro • fertilization (IVF) so that their embryos may be generated in vitro. Cells are removed from oocytes or embryos and used for the genetic diag...