Prenatal Diagnosis of the Hemoglobinopathies

Old, John

doi:10.1002/9781118981559.ch18

Cited by 1 publication

(1 citation statement)

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“…Amniotic fluid and chorionic villi are the main choices as a source of fetal DNA, although various alternatives have been developed to date [47][48][49]. Prenatal diagnosis enables prevention of thalassemia through termination of affected pregnancies, whereas preimplantation genetic diagnosis is a useful alternative for couples who have medical contraindications to abortion or who are against the termination of pregnancy due to the ethical or religious beliefs [28,29,50].…”

Section: Molecular Diagnosismentioning

confidence: 99%

Thalassemia in the laboratory: pearls, pitfalls, and promises

Aliyeva¹,

Asadov²,

Mammadova³

et al. 2018

Clinical Chemistry and Laboratory Medicine (CCLM)

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Thalassemia is one of the most common hereditary disorders of the developing world, and it is associated with severe anemia and transfusion dependence. The global health burden of thalassemia has increased as a result of human mobility and migration in recent years. Depending on inherited mutations, thalassemia patients exhibit distorted hemoglobin (Hb) patterns and deviated red cell indices, both of which can be used to support identification by diagnostic tools. Diagnostic approaches vary depending on the target population and the aim of the testing. Current methods, which are based on Hb patterns, are used for first-line screening, whereas molecular testing is needed for conformation of the results and for prenatal and preimplantation genetic diagnosis. In the present paper, we review the diagnostic parameters, pitfalls, interfering factors, and methods; currently available best-practice guidelines; quality assurance and standardization of the procedures; and promising laboratory technologies for the future of thalassemia diagnosis.

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