Case 36 – update 2

Following testing of the father, he is also found to be a carrier of Beta-thalassaemia.  The pregnancy continues, and following counselling the family decline any further investigation until the fetus is born.

What would be the options for testing prior to delivery?

What are the potential outcomes for the fetus?

What investigations would you perform once the baby is delivered?

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One Response to Case 36 – update 2

  1. shaimaa abdelmalik says:

    gene study for the fetus either by invasive methods: chorionic villous sampling, amniotic fluid or obtaining fetal blood sample or by non invasive methods: circulating fetal cells or free fetal DNA in mother blood
    the fetus has a 25% risk for being homozygous for beta thalassemia
    once the baby is delivered the most suitable is genetic testing as HPLC will not be decisive in the first 6 month until gamma alpha switch

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