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Thalassemia Control - Cyprus PGD - Reproductive Genetics Institute ...

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Thalassemia Control - Cyprus PGD - Reproductive Genetics Institute ... Thalassemia Control - Cyprus PGD - Reproductive Genetics Institute ... Presentation Transcript

  • Place of Cyprus Preimplantation Genetics Diagnosis in Community Control of Thalassemia Michael Angastiniotis IVF/PGD Center, Cyprus
  •   Fall in the thalassaemia major birth rate in four countries where registers exist.
    • Remain Single
    • Avoid Another Carrier as Partner
    • Select as Usual but Remain Childless
    • PND @ Cost of 25% Abortion
    • PGD if 1 st PND Resulted in Abortion
    • PGD from Onset
    • PGD + HLA For Treating Affected Sibling
    Options available for Individuals AT-RISK for Producing Thalassemia Offspring
  • Preconception Preimplantation Prenatal Perinatal Postnatal Conception Implantation Embryogenesis Fetal Growth Birth Childhood MOST IDEAL LEAST IDEAL OPTIONS OFFERED FOR COUPLES AT GENETIC RISK FOR DIAGNOSIS & PREVENTION PGD Reproductive Genetics Institute
  • Increase of Thalassemia major birth in Sardinia after the start of bone marrow transplantation in 1996 (Cao,1999)
  • (Cao,1999)
  • O OUTCOMES OF ALL KNOWN THALASSEMIA CONCEPTIONS IN UK IN THE ABSENCE OF PGD (Modell, personal communication)
  • UPTAKE OF PRENATAL DIAGNOSIS SEVERITY OF DISEASE
    • RISK
    • Alpha-Thalasse
    • Beta-Thalasse
    • Sickle cell
    • UPTAKE (%)
    • 100
    • 93
    • 52
  • UPTAKE OF PRENATAL DIAGNOSIS PREVIOUS CHILD WITH SCD
    • YES
    • NO
    • 94%
    • 43%
  •     Figure 1. Prenatal diagnoses for haemoglobin disorders for UK residents, and ethnic group of parents.   UPTAKE OF PRENATAL DIAGNOSIS BY DIFFERENT ETHNIC GROUPS IN UK SUGGESTING THE NEED FOR PGD (Modell, 1999 )
  •       PREGNANCY OUTCOMES FOR 102 COUPLES WHOSE THALASSEMIA RISK WAS DETECTED PROSPECTIVELY INDICATING THE NEED FOR PGD AS AN OPTION (Modell et al, 1999)