Prenatal diagnosis of hemoglobinopathies: from fetoscopy to coelocentesis

  • Gianfranca Damiani Department of Gynecology and Obstetrics, Prenatal Diagnosis Service, Villa Sofia-Cervello, Hospital, Palermo, Italy.
  • Margherita Vinciguerra Department of Hematology for Rare Diseases of Blood and Blood-Forming Organs, Laboratory for Molecular Prenatal of Hemoglobinopathies, Villa Sofia-Cervello Hospital, Palermo, Italy.
  • Cristina Jakil Department of Gynecology and Obstetrics, Prenatal Diagnosis Service, Villa Sofia-Cervello, Hospital, Palermo, Italy.
  • Monica Cannata Department of Hematology for Rare Diseases of Blood and Blood-Forming Organs, Laboratory for Molecular Prenatal of Hemoglobinopathies, Villa Sofia-Cervello Hospital, Palermo, Italy.
  • Filippo Cassarà Department of Hematology for Rare Diseases of Blood and Blood-Forming Organs, Laboratory for Molecular Prenatal of Hemoglobinopathies, Villa Sofia-Cervello Hospital, Palermo, Italy.
  • Francesco Picciotto Department of Gynecology and Obstetrics, Prenatal Diagnosis Service, Villa Sofia-Cervello, Hospital, Palermo, Italy.
  • Giovanna Schillaci Department of Gynecology and Obstetrics, Prenatal Diagnosis Service, Villa Sofia-Cervello, Hospital, Palermo, Italy.
  • Valentina Cigna Department of Gynecology and Obstetrics, Prenatal Diagnosis Service, Villa Sofia-Cervello, Hospital, Palermo, Italy.
  • Disma Renda Department of Hematology for Rare Diseases of Blood and Blood-Forming Organs, Laboratory for Molecular Prenatal of Hemoglobinopathies, Villa Sofia-Cervello Hospital, Palermo, Italy.
  • Aldo Volpes Andros Day Surgery, Reproductive Medicine Unit, Palermo, Italy.
  • Francesca Sammartano Andros Day Surgery, Reproductive Medicine Unit, Palermo, Italy.
  • Samuela Milone Andros Day Surgery, Reproductive Medicine Unit, Palermo, Italy.
  • Adolfo Allegra Andros Day Surgery, Reproductive Medicine Unit, Palermo, Italy.
  • Cristina Passarello Department of Hematology for Rare Diseases of Blood and Blood-Forming Organs, Laboratory for Molecular Prenatal of Hemoglobinopathies, Villa Sofia-Cervello Hospital, Palermo, Italy.
  • Filippo Leto Department of Hematology for Rare Diseases of Blood and Blood-Forming Organs, Laboratory for Molecular Prenatal of Hemoglobinopathies, Villa Sofia-Cervello Hospital, Palermo, Italy.
  • Antonino Giambona | a.giambona@villasofia.it Department of Hematology for Rare Diseases of Blood and Blood-Forming Organs, Laboratory for Molecular Prenatal of Hemoglobinopathies, Villa Sofia-Cervello Hospital, Palermo, Italy.

Abstract

Prenatal diagnosis of hemoglobinopathies involves the study of fetal material from blood, amniocytes, trophoblast coelomatic cells and fetal DNA in maternal circulation. Its first application dates back to the 70s and it involves globin chain synthesis analysis on fetal blood. In the 1980s molecular analysis was introduced as well as amniocentesis and chorionic villi sampling under high-resolution ultrasound imaging. The application of direct sequencing and polymerase chain reactionbased methodologies improved the DNA analysis procedures and reduced the sampling age for invasive prenatal diagnosis from 18 to 16- 11 weeks allowing fetal genotyping within the first trimester of pregnancy. In the last years, fetal material obtained at 7-8 weeks of gestation by coelocentesis and isolation of fetal cells has provided new platforms on which to develop diagnostic capabilities while non-invasive technologies using fetal DNA in maternal circulation are starting to develop.

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Published
2014-09-29
Keywords:
thalassemia, prenatal diagnosis, coelocentesis.
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How to Cite
Damiani, G., Vinciguerra, M., Jakil, C., Cannata, M., Cassarà, F., Picciotto, F., Schillaci, G., Cigna, V., Renda, D., Volpes, A., Sammartano, F., Milone, S., Allegra, A., Passarello, C., Leto, F., & Giambona, A. (2014). Prenatal diagnosis of hemoglobinopathies: from fetoscopy to coelocentesis. Thalassemia Reports, 4(2). https://doi.org/10.4081/thal.2014.2200