Pharmacogenomics of Embryology and Endometrium in ART

WEE2 and total ICSI failure

The WEE2 gene encodes a kinase required for exit from meiotic arrest after sperm entry. WEE2 mutations are one of the identified causes of total fertilization failure after ICSI when all other parameters are normal. In such patients, repeat ICSI without intervention is futile — the diagnosis redirects them toward oocyte donation or experimental approaches.

Empty follicle syndrome: true vs pseudo

Empty follicle syndrome is a real genetic phenomenon, but it must be distinguished from a pseudo-form caused by clinical errors (incorrect trigger, timing, mismatched post-trigger marker assessment). Only the true syndrome is a genetic pathology. The LH/hCG receptor and zona pellucida proteins, critical for the fertilization process, play a role here. Differentiation allows for the correct strategy — from protocol correction to a change of clinical route.

Expanded pre-cycle workup

Modern commercial panels cover about 180 infertility genes, a portion of which are already clinically validated. The approach is not «test everyone» but «select tests by clear clinical triggers»: failed ICSI, thin endometrium, poor blastulation, repeated embryo loss. A properly built pre-cycle workup turns «cause unknown» into a manageable clinical category.