Place of Cyprus Preimplantation Genetics Diagnosis in Community Control of Thalassemia - PowerPoint PPT Presentation

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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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Place of Cyprus Preimplantation Genetics Diagnosis in Community Control of Thalassemia

Michael Angastiniotis

IVF/PGD Center, Cyprus


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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.


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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


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


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(Cao,1999)


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OUTCOMES OF ALL KNOWN THALASSEMIA CONCEPTIONS IN UK

IN THE ABSENCE OF PGD

(Modell, personal communication)

O


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RISK

Alpha-Thalasse

Beta-Thalasse

Sickle cell

UPTAKE (%)

100

93

52

UPTAKE OF PRENATAL DIAGNOSISSEVERITY OF DISEASE


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YES

NO

94%

43%

UPTAKE OF PRENATAL DIAGNOSISPREVIOUS CHILD WITH SCD


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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)


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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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