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Thalassemia Reports
Volume 4
Issue 2
10.4081/thal.2014.2200
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Review

Prenatal Diagnosis of Hemoglobinopathies: From Fetoscopy to Coelocentesis

by
Gianfranca Damiani
1,
Margherita Vinciguerra
2,
Cristina Jakil
1,
Monica Cannata
2,
Filippo Cassarà
2,
Francesco Picciotto
1,
Giovanna Schillaci
1,
Valentina Cigna
1,
Disma Renda
2,
Aldo Volpes
3,
Francesca Sammartano
3,
Samuela Milone
3,
Adolfo Allegra
3,
Cristina Passarello
2,
Filippo Leto
2 and
Antonino Giambona
2,*
1
Department of Gynecology and Obstetrics, Prenatal Diagnosis Service, Villa Sofia-Cervello, Hospital, 90145 Palermo, Italy
2
Department of Hematology for Rare Diseases of Blood and Blood-Forming Organs, Laboratory for Molecular Prenatal of Hemoglobinopathies, Villa Sofia-Cervello Hospital, 90145 Palermo, Italy
3
Andros Day Surgery, Reproductive Medicine Unit, 90145 Palermo, Italy
*
Author to whom correspondence should be addressed.
Thalass. Rep. 2014, 4(2), 2200; https://doi.org/10.4081/thal.2014.2200
Submission received: 20 December 2013 / Revised: 20 May 2014 / Accepted: 21 May 2014 / Published: 29 September 2014

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.
Keywords: thalassemia; prenatal diagnosis; coelocentesis thalassemia; prenatal diagnosis; coelocentesis

Share and Cite

MDPI and ACS Style

Damiani, G.; Vinciguerra, M.; Jakil, C.; Cannata, M.; Cassarà, F.; Picciotto, F.; Schillaci, G.; Cigna, V.; Renda, D.; Volpes, A.; et al. Prenatal Diagnosis of Hemoglobinopathies: From Fetoscopy to Coelocentesis. Thalass. Rep. 2014, 4, 2200. https://doi.org/10.4081/thal.2014.2200

AMA Style

Damiani G, Vinciguerra M, Jakil C, Cannata M, Cassarà F, Picciotto F, Schillaci G, Cigna V, Renda D, Volpes A, et al. Prenatal Diagnosis of Hemoglobinopathies: From Fetoscopy to Coelocentesis. Thalassemia Reports. 2014; 4(2):2200. https://doi.org/10.4081/thal.2014.2200

Chicago/Turabian Style

Damiani, Gianfranca, Margherita Vinciguerra, Cristina Jakil, Monica Cannata, Filippo Cassarà, Francesco Picciotto, Giovanna Schillaci, Valentina Cigna, Disma Renda, Aldo Volpes, and et al. 2014. "Prenatal Diagnosis of Hemoglobinopathies: From Fetoscopy to Coelocentesis" Thalassemia Reports 4, no. 2: 2200. https://doi.org/10.4081/thal.2014.2200

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