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Prenatal diagnosis of homozygous α0-thalassemia: from an invasive to a noninvasive approach

, , , , &
Pages 321-329 | Published online: 10 Jan 2014
 

Abstract

The birth of babies with homozygous α0-thalassemia can be prevented by prenatal screening and diagnosis. Serial ultrasound examination of fetal cardio–thoracic ratio and placental thickness can exclude an affected pregnancy and, thus, reduce the need for an invasive test. Whether middle cerebral artery Doppler is useful in the prediction is not clear. 3D ultrasound examination, maternal blood-smear screening for fetal hemoglobin Bart’s cells and maternal serum markers for Down syndrome have also been investigated. In view of the recent data on the survival of affected fetuses after in utero transfusion, it is arguable whether the latter should be offered as an alternative to termination of pregnancy after prenatal diagnosis. Preimplantation genetic diagnosis is possible, particularly for couples with repeatedly affected pregnancies.

Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.

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