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Updated: May 13, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Genetic testing in couples undergoing assisted reproduction technique protocols
Liborio Stuppia1, Valentina Gatta, Ivana Antonucci
1G. d' Annunzio University, Department of Biomedical Sciences, Via dei Vestini 35 66013, Chieti-Pescara, Italy +39 08713554137 ; +39 08713554135 ; stuppia@unich.it.
Background:
An increasing number of couples undergo assisted reproduction techniques (ART) to generate a child, with the risk of the transmission to the offspring of a genetic defect underlying the condition of infertility.
Objective:
To review the most common genetic causes of infertility and identify the appropriate genetic testing to be carried out to reduce the risk of genetic defect in the offspring.
Method:
Review of the literature in the field.
Results/Conclusion:
Cytogenetic investigation and screening of the CFTR gene are the only genetics testing suggested in all the couples undergoing ART; other tests should be performed only in selected cases.
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