
WHOLE EXOME SEQUENCING: REVOLUTIONIZING PGT
Whole exome sequencing (WES) has become a critical tool for diagnosing severe genetic conditions caused by single-gene mutations.
This advancement is widely used to diagnose children and adults with congenital anomalies or developmental delay or intellectual disability.¹
WES is also recommended for pregnancies affected by fetal structural anomalies.²
With an incremental diagnostic rate of ~30%³, WES offers transformative insights.
Now, WES can be applied at the embryo stage. Trophectoderm biopsies are screened for hundreds of monogenic conditions, enabling the identification and prevention of genetic diseases before embryo transfer.
This cutting-edge approach represents the most comprehensive preimplantation genetic testingavailable today.
2. Van den Veyver et al. Prenat Diagn (2022);42(6):796–803;
3. Mellis et al. Prenat Diagn. 2022;42(6):662–685