PGT-M (PGD)

(Preimplantation Genetic Testing - Monogenic)

PGT-M (PGD): Identifying Inherited Genetic Disorders in Embryos

When is PGT‑M (PGD) Recommended

  • Couples with a history of genetic disorders in their families should undergo PGT-M (PGD).
  • Fertile couples with a family history of single gene disorders can also opt for an IVF cycle coupled with PGT-M (PGD)

PGT-M (PGD) Process

PGT-M is a powerful tool that can aid couples in their journey towards conceiving a healthy baby. The process involves several steps, from the initial diagnosis to the transfer of a healthy embryo. Let’s take a closer look at the steps involved in the PGT-M process.

Benefits of PGT-M

It is believed that chromosome rearrangements are hereditary. However, it can also happen spontaneously. In fact, many carriers of chromosome rearrangements are completely unaware of their status until the time they try to have children. In such circumstances, PGT-SR comes as a life savior to help identify healthy embryos that further develop into healthy babies.

At Anderson, we test for three primary types of chromosome rearrangements which include inversions, Robertsonian translocations, and reciprocal translocations. Let us look at each of them individually to understand the conditions better.

PGT-M (PGD) enables the examination of single gene mutations and individual carriers of diseases.
The test is customized based on the nature of genetic disorder often associated with a patient’s family medical history.
Coupling PGT-A with PGT-M reduces the risk of miscarriages caused by Aneuploidies.
PGT-M can be applied to any single gene disorder that has been diagnosed to be pathogenic.

Preimplantation Genetic Diagnosis (PGT-M (PGD)) for Single Gene Disorders

  • Cholestasis, progressive familial intrahepatic
  • ACADM deficiency
  • Bardet-Biedl syndrome
  • Cystic fibrosis
  • Charcot-Marie-Tooth disease, type 1 B
  • Stickler syndrome, type II
  • Osteogénesis imperfecta
  • Spondyloepiphyseal dysplasia
  • Muscular dystrophy-dystroglycanopathy
  • Multiple endocrine neoplasia II
  • Retinitis pigmentosa
  • Central core disease
  • Duchenne muscular dystrophy
  • steinert (DM1)
  • Jeune syndrome
  • Cerebral Vascular Disease
  • Exostoses, type I
  • Exostoses, type II
  • Hemophilia A
  • Hydrocephalus
  • Marfan syndrome
  • Fragile X syndrome
  • Spinal muscular atrophy
  • Spastic paraplegia AD type 3
  • Holt-Oram syndrome
  • Hemophagocytic lymphohistiocytosis, familial, 3
  • Mucopolysaccharidosis
  • Oculodentodigital dysplasia
  • Thalassemia‑beta
  • Tay-Sachs disease
  • Histocompatibility
  • Lynch syndrome
  • Huntington disease
  • Combined immunodeficiency, X‑linked
  • Amyotrophic lateral sclerosis (ALS)
  • Epidermolysis bullosa
  • Treacher Collins syndrome 1
  • Tuberous sclerosis‑1
  • Saethre‑Chotzen syndrome
  • Cardiomyopathy dilated
  • Renal cysts and diabetes syndrome
  • Multiple endocrine neoplasia
  • Ornithine transcarbamylase deficiency
  • Autosomal dominant Polycystic kidney disease 1
  • Autosomal dominant Polycystic Kidney disease 2
  • Autosomal recessive Polycystic kidney and Hepatic disease
  • Charcot-Marie-Tooth disease, type 1A and type 1E
  • FSHD
  • CADASIL