Preimplantation Genetic Diagnosis to Improve Pregnancy Outcome

Abstract

The most common cause of pregnancy loss at less than 10 weeks of gestation is chromosomal abnormality. Multiple cytogenetic and molecular causes of pregnancy loss have been enumerated in various studies. The couples who are affected by or have a family history of genetic disorders like single gene disorders and X-linked diseases and known chromosomal abnormality can be given an option of preimplantation genetic diagnosis (PGD). It is one of the available medical procedures that can be offered as an acceptable substitute to the conventional prenatal diagnosis for the couples at high risks of transferring genetic aberrations to their progeny. PGD has to be done in collaboration with in vitro fertilization (IVF) cycles that adds to the cost of the treatment. Preimplantation genetic screening (PGS) to screen de novo aneuploidies is being performed recently for better results in IVF. In this chapter, we will discuss the various cytogenetic causes of pregnancy loss and the role of PGD/PGS in improving obstetric outcomes.