TY - JOUR AU - Rosatelli, Maria Cristina AU - Saba, Luisella PY - 2009/11/15 Y2 - 2024/03/28 TI - PRENATAL DIAGNOSIS OF ?-THALASSEMIAS AND HEMOGLOBINOPATHIES JF - Mediterranean Journal of Hematology and Infectious Diseases JA - Mediterr J Hematol Infect Dis VL - 1 IS - 1 SE - Review Articles DO - UR - https://www.mjhid.org/mjhid/article/view/2009.011 SP - e2009011 AB - <p class="MsoNormal" style="text-align: justify; line-height: 200%; margin: 0cm 0cm 0pt;"><span style="font-family: " lang="EN-US"><span style="font-size: small;"> </span></span></p><p class="MsoNormal" style="margin: 0cm 0cm 0pt; line-height: 200%; text-align: justify;"><span style="font-family: " lang="EN-US">Prenatal diagnosis of ?-thalassemia was accomplished for the first time in the 1970s by globin chain synthesis analysis on fetal blood obtained by placental aspiration at 18-22 weeks gestation. Since then, the molecular definition of the ?- globin gene pathology, the development of procedures of DNA analysis, and the introduction of chorionic villous sampling have dramatically improved prenatal diagnosis of this<span style="mso-spacerun: yes;">  </span>disease and of related disorders. <span style="mso-spacerun: yes;"> </span>Much information is now available about the molecular mechanisms of the diseases and the molecular testing is widespread.</span></p><p class="MsoNormal" style="margin: 0cm 0cm 0pt; line-height: 200%; text-align: justify;"><span style="font-family: " lang="EN-US">As prenatal diagnosis has to provide an accurate, safe and early result, an efficient screening of the population and a rapid molecular characterization of the couple at risk, are necessary prerequisites. In the last decades  earlier and less invasive approaches for prenatal diagnosis were developed . A overview of the most promising procedure will be done.</span></p><p class="MsoNormal" style="margin: 0cm 0cm 0pt; line-height: 200%; text-align: justify;"><span style="font-family: " lang="EN-US">Moreover, in order to reduce the choice of<span style="mso-spacerun: yes;">  </span><span style="mso-spacerun: yes;"> </span>interrupting <span style="mso-spacerun: yes;"> </span>the pregnancy in case of affected fetus, Preimplantation or Preconceptional Genetic Diagnosis (PGD) has been setting up for several diseases including thalassemias. </span></p><p class="MsoNormal" style="text-align: justify; line-height: 200%; margin: 0cm 0cm 0pt;"> </p> ER -