Preimplantation Genetic Diagnosis (PGD) Treatment Options / Genetic Testing

Preimplantation Genetic Diagnosis (PGD)

What is PGD?

Preimplantation Genetic Diagnosis (PGD) is a standard biopsy procedure performed on embryos in conjunction with an in-vitro fertilization (IVF) cycle, prior to implantation. PGDinvolves taking one or two cells from a developing embryo and examining its genetic makeup. This allows screening of the embryos for a specific genetic abnormality before being transferred in an IVF cycle.

Patients using preimplantation genetic diagnosis testing methods will first undergo controlled ovarian hyperstimulation, oocyte retrieval, and in vitro fertilization in the standard manner. The genetic material is taken from the developing embryo and is examined for mutations.  The term “preimplantation genetic diagnosis” (PGD) is used when one or both parents carry a known genetic mutation and they seek to transfer a non-affected embryo.


Known genetic diseases that PGD can detect:


Autosomal Recessive Disorders*
Couples in which both partners carry a known mutation for disease have a one-in-four chance of having an affected child. The parents are not affected as a result of being a carrier for the mutation. This is known as an autosomal recessive disorder.

Examples of Autosomal Recessives Disorders are listed below:

Cystic Fibrosis                                                        Phenylketonuria

Sickle Cell Anemia                                                   Spinal Muscular Atrophy

Thalassemia                                                            Congenital Adrenal Hyperplasia

HLA genotyping                                                       Fanconi Anemia

Epidermolysis Bullosa                                             Glycogen Storage Disease

Gaucher Disease                                                       Tay – Sachs disease


X Linked Diseases*
In some instances, a mutation is found in a gene contained on the X-chromosome. Because males contain only a single copy of the X-chromosome, which is inherited from the mother, these diseases occur much more frequently in males. Females have two X chromosomes. If one of the X chromosomes contains a normal gene, then the female would not be expected to have the disease. These females may be referred to as carriers. In rare cases, a female may have a mutation on both X chromosomes, and she would manifest the disease.

Examples of X-Linked Disorders are listed below:

Fragile X                                                          Hemophilia A and B

Duchenne Muscular Dystrophy                         Myotubular Myopathy

X-linked Hydrocephalus                                    Ornithine Carbamyl Transferase (OTC) Deficiency


Dominant Disorders*
Some disease states are inherited when a single copy of a gene is passed from the parent to the child. As would be predicted, the parent with the abnormal gene is usually afflicted with the disease.

Examples of Autosomal Dominant Disorders include:

Myotonis Dystrophy                                               Huntington’s Disease

Polycystic Kidney Disease 1 &2                             Achondroplasia

Neurofibromatosis 1 &2                                          Li-Fraumeni (p53 gene)

Von-Hippel Lindau                                                    Marfan Syndrome

Osteogenesis lmperfecta I&IV                                Charcot-Marie-Tooth type lA

Multiple Epiphyseal Dysplasia                                 Retinitis Pigmento

Familial Adenomatous Polyposis


Chromosomal Disorders*
A chromosomal disorder occurs when there are an abnormal number or chromosomes or a chromosomal structural abnormality. 

Examples of Chromosomal Disorders include: 

Chromosomal Trisomies ( ie. Trisomy 13, 18, or 21 (Down Syndrome))

Chromosomal Translocations

Monosomies ( ie. Turner’s Syndrome)

Any other chromosomal abnormality, with few exceptions, can typically be diagnosed by PGD. For a more complete list of genetic diseases that can be screened, or to determine if you would benefit from PGD, please consult one of our physicians.

* The list is not intended to be exhaustive.