Pros and cons of implementing a carrier genetic test in an infertility practice

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Purpose of review

Carrier screening is promptly evolving thanks to the rapid development of new technologies and mutation knowledge. Expanded carrier screening is already being used in assisted reproduction. Medical, ethical, psychological and legal aspects appear from the general public, patients, healthcare providers and scientific societies. Pros and cons of implementing this technique are highlighted.

Recent findings

Recent publications show the development of wider gene screening panels with lowering cost. Human genome is continually being updated as are the number of mutations and their corresponding phenotype known. Classical criteria established to consider a genetic screening protocol are nowadays overtaken, and scientific societies are developing guidelines and criteria adapted to expanded genetic testing. There is no universal agreement on the mutations that should be included in the panel. Patients’ perceptions on carrier genetic testing seem to be positive. Counselling patients is of paramount importance stressing implications when testing positive on their clinical decision making. Gamete donor genetic testing implies a modified approach and blinded matching must be offered.


There are important positive aspects implementing a carrier genetic test in assisted reproductive technique, but controversial issues appear. Reproductive providers must be appropriately aware and follow the new guidelines.

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