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Update on prenatal diagnosis of β-thalassemia: “Early prenatal diagnosis of Hb Lepore Boston-Washington and β-thalassemia on fetal celomatic DNA”

Update on prenatal diagnosis of β-thalassemia: “Early prenatal diagnosis of Hb Lepore Boston-Washington and β-thalassemia on fetal celomatic DNA”

2022-04-27
Update on prenatal diagnosis of β-thalassemia: “Early prenatal diagnosis of Hb Lepore Boston-Washington and β-thalassemia on fetal celomatic DNA”

The study shows that prenatal diagnosis of β-thalassemia and Hb Lepore may be feasible in an earlier time of pregnancy by analysing the fetal DNA obtained by nucleated fetal cells present in celomatic fluid

Analysis of fetal DNA in at-risk couples for thalassemia is commonly performed from fetal trophoblast or amniotic fluid cells. The main limitation of these procedures is essentially due to the late gestation week in which diagnosis is performed. A recent study shows that the celomic cavity, developed around 4 weeks of pregnancy within the extraembryonic mesoderm, contains embryonic erythroid precursor cells which are a source of fetal DNA that can be used to perform a very early invasive prenatal diagnosis.

We share with you an important work published in the scientific journal "International Journal of Laboratory Hematology" entitled: "Early prenatal diagnosis of Hb Lepore Boston-Washington and β-thalassemia on fetal celomatic DNA".

The authors of the manuscript are multiple experts from ERN-EuroBloodNet member Riuniti hospitals Villa Sofia-Cervello - Palermo: Antonino Gianbona, Filippo Leto, Filippor Cassarà, Viviana Tartaglia, Giuseppe Marchese, Emanuela Orlandi, Valentina Cigna, Francesco Picciotto, Aurelio Maggio and Margherita Vinciguerra.

We invite you to read the manuscript!


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