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

Acta Biomed

. 2020 Nov 9;91(13-S):e2020021. doi: 10.23750/abm.v91i13-S.10534.

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

Aysha Karim Kiani 1Stefano Paolacci 2Pietro Scanzano 3Sandro Michelini 4Natale Capodicasa 5Leonardo D’Agruma 6Angelantonio Notarangelo 7Gerolamo Tonini 8Daniela Piccinelli 9Kalantary Rad Farshid 10Paolo Petralia 11Ezio Fulcheri 12Francesca Buffelli 13Pietro Chiurazzi 14Corrado Terranova 15Francesco Plotti 16Roberto Angioli 17Marco Castori 18Ondrej Pös 19Tomas Szemes 20Matteo Bertelli 21Affiliations expand

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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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