ABSTRACT
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. SUMMARY: 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.
Subject(s)
Genetic Counseling , Heterozygote , Infertility/therapy , Preimplantation Diagnosis , Reproductive Techniques, Assisted , DNA Mutational Analysis , Female , Genetic Testing , Genetic Variation , Humans , Mutation , Phenotype , Practice Guidelines as Topic , PregnancyABSTRACT
OBJECTIVE: To investigate the impact of early cleavage (EC) on embryo quality, implantation, and live-birth rates. DESIGN: Prospective cross-sectional study. SETTING: Multicenter study. PATIENT(S): Seven hundred embryo transfers and 1,028 early-stage human embryos. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Implantation according to the presence of EC and embryo quality. RESULT(S): The presence of EC is associated with embryo quality, especially in cycles with autologous oocytes. However, the use of EC as an additional criterion for selecting an embryo for transfer does not appear to significantly improve likelihood of implantation. Furthermore, embryos that presented EC had live-birth rates per implanted embryo similar to those that did not show any sign of cleavage. CONCLUSION(S): At least for conventional embryo culture and morphologic evaluations, the additional evaluation of EC in embryos may not be valuable to improve embryo implantation.
