Recurrent IVF failure: Review of genetic factors

Gene Reports ◽  
2020 ◽  
Vol 20 ◽  
pp. 100685
Author(s):  
Kimia Vakili ◽  
Mobina Fathi ◽  
Shirin Yaghoobpoor ◽  
Niloofar Deravi ◽  
Soudeh Ghafouri-Fard
2021 ◽  
Vol 7 (4) ◽  
pp. 115-117
Author(s):  
Kulvinder Kochar Kaur ◽  
Gautam Allahbadia ◽  
Mandeep Singh

Aim: Worldwide a big altercation exists with regards to the actual existence of the term “ Empty follicle syndrome’’(EFS), so much so that certain big authorities in the field have been believing that true EFS does not exist. Basically EFS is a syndrome when no functionally intact oocyte get retrieved when attempting an oocyte pick up (OPU) for a successful in vitro fertilization (IVF), however such patients encounter recurrent IVF failures. Since it is has become a big problem for the treating reproductive endocrinologist, besides the patient encountering recurrent IVF failures, it has become essential to differentiate the true EFS alias genuine Empty follicle syndrome (gEFS) from what is labeled today as the false empty follicle syndrome (fEFS). In view of the recently documented presence of mutations, gEFS got verified and appears to silence this biggest conflict that arose secondary to the existence of a false empty follicle syndrome(fEFS), where one could manage to get successful IVF outcomes subsequent to repeated hCG injections/ gonadotropin releasing hormone (GnRH) agonist in addition to pregnancy, with lot of clinicians believing there is no true term like EFS. Methods: Recently Yang et al., performed a study In tertiary a university based reproductive center in China that was comprised of a big cohort of patients that presented with gEFS. Genetic evaluation was conducted on 35 non correlated infertile patients who went through 16 failed IVF cycles in addition to oocyte degeneration, besides the subjects got a diagnosis of possessing a particular kind of EFS- cumulus oocytes complexes (COC’s) but possessed oocytes that were undergoing degeneration, with the utilization of whole –exome sequencing along with targeted Sanger sequencing. Results: Yang et al., found 22 innovative genetic variant of zona pellucida (ZP), genes in 18 subjects, that were inclusive of 20 variants in ZP 1 gene, 2 in ZP 2 gene in addition to 1 recurring variant in ZP3 gene that had been earlier documented. The homogenous /compound heterogenous ZP 1 mutations were inherited in an autosomal recessive manner, while the heterogenous variants of ZP 2 as well as ZP3 genes possessed an autosomal dominant manner of inheritance. Conclusions: These mutations were anticipated to be harmful in silico along with got further experimentally corroborated to be functionally null dependent on their ectopic expression in vitro. Thus with this further evidence that has been recently provided with regards to the existence of genuine Empty follicle syndrome (gEFS), it is significant for the youngsters to realize if they encounter similar cases after trial of rescue hCG injections / GnRH) agonist, not to further keep waiting, but evaluate further with regards to the existence of mutations for Zona Pellucida (ZP), ZP 1, ZP2 as well as ZP3 genes mutations, or LH/ chorionic gonadotropins receptor (LHCGR) gene mutation without subjecting the patient to repeated IVF, with her psychological as well as financial health in mind


2002 ◽  
Vol 78 ◽  
pp. S188
Author(s):  
Tugce Pehlivan ◽  
Carmen Rubio ◽  
Lorena Rodrigo ◽  
Jose A Remohi ◽  
Antonio Pellicer ◽  
...  

2010 ◽  
Vol 20 ◽  
pp. S46
Author(s):  
A.A. Gusina ◽  
S.V. Zhukovskaya ◽  
L.G. Grakovich

Author(s):  
Liu Liu ◽  
Feng Zhou ◽  
Xiaona Lin ◽  
Tinchiu Li ◽  
Xiaomei Tong ◽  
...  

2004 ◽  
Vol 8 (6) ◽  
pp. 726 ◽  
Author(s):  
Frank Nawroth ◽  
Dolores Foth ◽  
Torsten Schmidt

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