Preimplantation genetic diagnosis (PGD).

Diagnóstico genético preimplantario (DGP) en Clínica JOFREFIV

1. What is Preimplantation Genetic Diagnosis for monogenic diseases?

Preimplantation Genetic Diagnosis (PGD) for monogenic diseases is an early genetic diagnosis performed on the embryo before its transfer to the uterus, and therefore, before pregnancy is established. Its objective is to analyze the DNA of the embryo, allowing for the classification of embryos, distinguishing those that have not inherited the mutation and will not suffer from the disease. These embryos will be the candidates to be transferred to the mother's womb.

PGD for monogenic diseases prevents couples with a high genetic risk from having to make decisions about terminating pregnancies with abnormal gestations. A person's cells contain 46 chromosomes inherited from their parents, 23 from the father and 23 from the mother, giving us two sets of 23 chromosomes. Chromosomes are made up of a chemical molecule called DNA, which is divided into small fragments known as genes. DNA contains information organized in a sequence.

When a failure or mutation occurs in the information of a single gene, it results in a monogenic disease. These mutations are generally passed down in families from generation to generation, but they can also appear for the first time in offspring (de novo).

More information:
The main goal of PGD for monogenic diseases is to diagnose and prevent the transmission to offspring of severe diseases caused by the alteration of a single gene (monogenic), providing patients affected by these pathologies and their families with a quality diagnosis.

PGD (Preimplantation Genetic Diagnosis) for monogenic diseases allows for the genetic study of embryos before they are transferred to the maternal uterus, and therefore, before implantation occurs. It requires an embryonic biopsy, the extraction of one of the cells of the embryo, on which the genetic study for different pathologies is performed. With the results of the study, "normal or healthy" embryos are selected for transfer to the uterus. In cases of couples with hereditary genetic diseases, the objective of PGD for monogenic diseases is to select embryos not affected by the disease that the parents suffer from or carry.

2. Who is Preimplantation Genetic Diagnosis for monogenic diseases indicated for?

Preimplantation Genetic Diagnosis for monogenic diseases is indicated for couples with personal or family history of high risk for serious genetic diseases, examples of which include the following:

  • Autosomal Dominant Polycystic Kidney Disease.
  • Autosomal Recessive Polycystic Kidney Disease.
  • Becker Muscular Dystrophy.
  • Beta Thalassemia.
  • Congenital Adrenal Hyperplasia (CYP21A2 gene).
  • Cystic Fibrosis.
  • Charcot-Marie-Tooth Disease Type 1A.
  • Duchenne Muscular Dystrophy.
  • Familial Amyloid Polyneuropathy.
  • Fragile X Syndrome.
  • Hemophilia A.
  • Hemophilia B.
  • Huntington's Disease.
  • Multiple Endocrine Neoplasia Type 2A.
  • Myotonic Dystrophy (Steinert's Disease).
  • Rh Incompatibility.
  • Spinal Muscular Atrophy.
  • X-linked Adrenoleukodystrophy.