Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive test

Aysha Karim Kiani; Stefano Paolacci; Pietro Scanzano; Sandro Michelini; Natale Capodicasa; Leonardo D’Agruma; Angelantonio Notarangelo; Gerolamo Tonini; Daniela Piccinelli; Kalantary Rad Farshid; Paolo Petralia; Ezio Fulcheri; Francesca Buffelli; Pietro Chiurazzi; Corrado Terranova; Francesco Plotti; Roberto Angioli; Marco Castori; Ondrej Pös; Tomas Szemes; Matteo Bertelli

doi:10.23750/abm.v91i13-S.10534

Prenatal genetic diagnosis: Fetal therapy as a possible solution to a positive test

Authors

Aysha Karim Kiani MAGI EUREGIO, Bolzano, Italy
Stefano Paolacci MAGI'S LAB
Pietro Scanzano San Giovanni Battista Hospital, Rome, Italy
Sandro Michelini Department of Rehabilitation, San Giovanni Battista Hospital, Rome, Italy
Natale Capodicasa MAGI Balkans, Tirana, Albania
Leonardo D’Agruma Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy
Angelantonio Notarangelo Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy
Gerolamo Tonini Surgical Department, Unit of Urology, Poliambulanza Foundation, Brescia, Italy
Daniela Piccinelli Department of Mother and Child Health, Unit of Obstetrics and Gynecology, Poliambulanza Foundation, Brescia, Italy
Kalantary Rad Farshid Surgical Department, Unit of Urology, Poliambulanza Foundation, Brescia, Italy
Paolo Petralia IRCCS Giannina Gaslini Institute, Genoa, Italy
Ezio Fulcheri UOSD Fetal and Perinatal Pathology, Department of Translational Research, Laboratory Medicine, Diagnostics and Services, IRCCS Giannina Gaslini Institute, Genoa, Italy
Francesca Buffelli UOSD Fetal and Perinatal Pathology, Department of Translational Research, Laboratory Medicine, Diagnostics and Services, IRCCS Giannina Gaslini Institute, Genoa, Italy
Pietro Chiurazzi Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Rome, Italy; UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome Italy
Corrado Terranova University Campus Bio Medico of Rome, Department of Obstetrics and Gynecology, Rome, Italy
Francesco Plotti University Campus Bio Medico of Rome, Department of Obstetrics and Gynecology, Rome, Italy
Roberto Angioli University Campus Bio Medico of Rome, Department of Obstetrics and Gynecology, Rome, Italy
Marco Castori Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy
Ondrej Pös Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia; Geneton Ltd., Bratislava, Slovakia
Tomas Szemes 14 Department of Molecular Biology, Faculty of Natural Sciences, Comenius University, Bratislava, Slovakia; Geneton Ltd., Bratislava, Slovakia; Comenius University Science Park, Bratislava, Slovakia
Matteo Bertelli MAGI EUREGIO, Bolzano, Italy; MAGI’S LAB, Rovereto (TN), Italy; EBTNA-LAB, Rovereto (TN), Italy

DOI: https://doi.org/10.23750/abm.v91i13-S.10534

Keywords:

prenatal diagnosis, prenatal gene therapy, prenatal interventions, prenatal stem cell therapy, fetal drug therapy

Abstract

Background: Fetal abnormalities cause 20% of perinatal deaths. Advances in prenatal genetic and other types of screening offer great opportunities for identifying high risk pregnancies. Methods: Through a literature search, here we summarise what are the prenatal diagnostic technique that are being used and how those techniques may allow for prenatal interventions. Results: Next generation sequencing and non-invasive prenatal testing are fundamental for clinical diagnostics because of their sensitivity and accuracy in identifying point mutations, aneuploidies, and microdeletions, respectively. Timely identification of genetic disorders and other fetal abnormalities enables early intervention, such as in-utero gene therapy, fetal drug therapy and prenatal surgery. Conclusion: Prenatal intervention is mainly focused on conditions that may cause death or lifelong disabilities, like spina bifida, congenital diaphragm hernia and sacrococcygeal teratoma; and may be an alternative therapeutic option to termination of pregnancy. However, it is not yet widely available, due to lack of specialized centers.

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