New approaches for multifactor preimplantation genetic diagnosis of monogenic diseases and aneuploidies from a single biopsy

Capalbo A., Rienzi L., Ubaldi F.M.

GENERA, Centers for Reproductive Medicine, Rome, Italy

GENETYX, Molecular Genetics Laboratory, Marostica, Italy


Fertility and Sterility 2016 Feb. – Volume 105, Issue 2, Pages 297–298


Preimplantation genetic diagnosis (PGD) is an alternative to spontaneous conception and chorionic villus sampling or amniocentesis for couples at risk of transmitting a defined genetic disorder. It involves the diagnosis of genetic disease on embryo biopsies during an IVF cycle before a clinical pregnancy has been established and represents a preferred reproductive option for many patients owing to medical, emotional, and ethical questions raised by the need to consider termination of pregnancy after prenatal testing.