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Place of Cyprus Preimplantation Genetics Diagnosis in Community Control of Thalassemia

Place of Cyprus Preimplantation Genetics Diagnosis in Community Control of Thalassemia. Michael Angastiniotis IVF/PGD Center, Cyprus. Options available for Individuals AT-RISK for Producing Thalassemia Offspring. Remain Single Avoid Another Carrier as Partner

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Place of Cyprus Preimplantation Genetics Diagnosis in Community Control of Thalassemia

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  1. Place of Cyprus Preimplantation Genetics Diagnosis in Community Control of Thalassemia Michael Angastiniotis IVF/PGD Center, Cyprus

  2. Options available for Individuals AT-RISK for Producing Thalassemia Offspring • Remain Single • Avoid Another Carrier as Partner • Select as Usual but Remain Childless • PND @ Cost of 25% Abortion • PGD if 1st PND Resulted in Abortion • PGD from Onset • PGD + HLA For Treating Affected Sibling Fall in the thalassaemia major birth rate in four countries where registers exist.

  3. Reproductive Genetics Institute OPTIONS OFFERED FOR COUPLES AT GENETIC RISK FOR DIAGNOSIS & PREVENTION MOST IDEAL Preconception PGD Conception Preimplantation Implantation Embryogenesis Prenatal Fetal Growth Perinatal Birth Postnatal Childhood LEAST IDEAL

  4. Increase of Thalassemia major birth in Sardinia after the start of bone marrow transplantation in 1996 (Cao,1999)

  5. (Cao,1999)

  6. OUTCOMES OF ALL KNOWN THALASSEMIA CONCEPTIONS IN UK IN THE ABSENCE OF PGD (Modell, personal communication) O

  7. RISK Alpha-Thalasse Beta-Thalasse Sickle cell UPTAKE (%) 100 93 52 UPTAKE OF PRENATAL DIAGNOSISSEVERITY OF DISEASE

  8. YES NO 94% 43% UPTAKE OF PRENATAL DIAGNOSISPREVIOUS CHILD WITH SCD

  9. 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)

  10. PREGNANCY OUTCOMES FOR 102 COUPLES WHOSE THALASSEMIA RISK WAS DETECTED PROSPECTIVELY INDICATING THE NEED FOR PGD AS AN OPTION (Modell et al, 1999)

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