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Exonic genetic variants associated with unexpected fertilization failure and zygotic arrest after ICSI: a systematic review

Published online by Cambridge University Press:  22 May 2023

Marc Torra-Massana ,
Amelia Rodríguez  and
Rita Vassena Open the ORCID record for Rita Vassena [Opens in a new window]
Marc Torra-Massana*
Affiliation:
Eugin, Balmes 236, 08006, Barcelona, Spain
Amelia Rodríguez
Affiliation:
Eugin, Balmes 236, 08006, Barcelona, Spain
Rita Vassena
Affiliation:
Eugin, Balmes 236, 08006, Barcelona, Spain
*
Corresponding author: Marc Torra-Massana, Eugin, Balmes 236, 08006, Barcelona, Spain. E-mail: mtorra@eugin.es
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Summary

Fertilization failure (FF) and zygotic arrest after ICSI have a huge effect on both patients and clinicians, but both problems are usually unexpected and cannot be properly diagnosed. Fortunately, in recent years, gene sequencing has allowed the identification of multiple genetic variants underlying failed ICSI outcomes, but the use of this approach is still far from routine in the fertility clinic. In this systematic review, the genetic variants associated with FF, abnormal fertilization and/or zygotic arrest after ICSI are compiled and analyzed. Forty-seven studies were included. Data from 141 patients carrying 121 genetic variants affecting 16 genes were recorded and analyzed. In total, 27 variants in PLCZ1 (in 50 men) and 26 variants in WEE2 (in 24 women) are two of the factors related to oocyte activation failure that could explain a high percentage of male-related and female-related FF. Additional variants identified were reported in WBP2NL, ACTL9, ACTLA7, and DNAH17 (in men), and TUBB8, PATL2, TLE6, PADI6, TRIP13, BGT4, NLRP5, NLRP7, CDC20 and ZAR1 (in women). Most of these variants are pathogenic or potentially pathogenic (89/121, 72.9%), as demonstrated by experimental and/or in silico approaches. Most individuals carried bi-allelic variants (89/141, 63.1%), but pathogenic variants in heterozygosity have been identified for PLCZ1 and TUBB8. Clinical treatment options for affected individuals, such as chemical-assisted oocyte activation (AOA) or PLCZ1 cRNA injection in the oocyte, are still experimental. In conclusion, a genetic study of known pathogenic variants may help in diagnosing recurrent FF and zygotic arrest and guide patient counselling and future research perspectives.

Keywords

Fertilization failureGene sequencingICSIInfertilityOocyte activation failureVariantsZygotic arrest
Type
Review Article
Information
Zygote , Volume 31 , Issue 4 , August 2023 , pp. 316 - 341
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Copyright
© The Author(s), 2023. Published by Cambridge University Press

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Footnotes

*

Current address: Fecundis, Barcelona, Spain.

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