PREIMPLANTATION GENETIC DIAGNOSIS APPLICATION INDICATIONS AND TECHNIQUES, A REVIEW

Samah Awad AbduRahim*, Marwa Abdullah Al-Amoudi, Leena Babiker Mirghani

ABSTRACT

Pre-implantation genetic diagnosis (PGD) is a reproductive technology that is being proposed to improve the effectiveness of in vitro fertilization (IVF) by screening for embryonic aneuploidy using fixed embryo samples prior to implantation. Indications for PGD varies depending on center, but in general they include advanced maternal age, recurrent pregnancy loss, recurrent IVF failure, severe male factor infertility, confirmed chromosomal rearrangement carrier, and bad obstetric history. Several diseases and disorders that can be screened prior to preimplantation are categorized generally as chromosomal abnormalities and monogenic diseases. The genetic analysis is performed by fluorescent in situ hybridization (FISH) for cytogenetic diagnosis, or polymerase chain reaction (PCR) for molecular diagnosis. To improve the accuracy of the diagnosis, new technologies are emerging, with comparative genomic hybridization (CGH) and microarrays.

Keywords: Pre-implantation, in vitro fertilization, aneuploidy, genetic screening.