Protecting Future Generations From Hereditary Genetic Disorders Using Preimplantation Genetic Diagnosis: A Narrative Review Article

Cureus. 2024 Dec 10;16(12):e75465. doi: 10.7759/cureus.75465. eCollection 2024 Dec.

Abstract

Preimplantation genetic diagnosis (PGD) is provided by majority of reproductive clinics in the United States (US), and PGD is used in many in vitro fertilization (IVF) procedures every year. PGD is extensively used to screen for certain genetic abnormalities and aneuploidy in individuals undergoing IVF. Genetic disorders are very prevalent in Saudi Arabia. The high prevalence of consanguinity in the population explains, to a great extent, the incidence of genetic disorders being relatively higher in the Kingdom of Saudi Arabia (KSA) compared to many other countries. Estimates range from 6% to 10% among all live births, and at least one study estimated that up to 30% of the population couldbe affected by a genetic disorder at any time in their lifetime. Therefore, a preventive measure such as PGD is useful for detecting genetic disorders before implantation. In KSA, genetic disorders are prevalent with a high psychological and financial burden. A diagnostic procedure like PGD is useful for detecting genetic disorders. It is used to analyze embryos under the IVF cycle. Then, a biopsy is taken from the embryos and analyzed using techniques such as polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH). Only healthy embryos are transferred to the uterus, thus eliminating the need for a parental diagnostic test that comes with substantial risk to the mother and the fetus. PGD is used for the detection of genetic abnormalities such as sex-linked diseases and chromosomal abnormalities, helping parents with genetic disorders to conceive a healthy child. Some of the limitations of PGD are its unavailability and the high cost, which limit the access for parents of low socioeconomic status. It creates many decision-making problems for the facilities and parents. Our objectives include giving an overview of PGD history, demonstrating indications for this procedure, explaining its techniques, and discussing the ethical issues surrounding it. PGD offers improved IVF results and reduced genetic disorder prevalence but also has disadvantages like high costs, limited access, and ethical concerns.

Keywords: contiguity and genetic disorders; hereditary disorders; new techniques for preimplantation genetic diagnosis; preimplantation genetic diagnosis; preimplantation genetic diagnosis indications; saudi arabia.

Publication types

  • Review