Preimplantation Genetic Diagnosis For In Vitro Fertilization Patients

PGD allows only those embryos identified as being free from genetic abnormalities to be transferred for implantation in the mother’s uterus. PGD provides great comfort by reducing the probability of passing on a genetic abnormality and increasing the likelihood of a normal pregnancy. PGD may be utilized when a genetic defect is the suspected cause of infertility.

The most frequent indications for PGD in such cases are:

  1. Recurrent miscarriages
  2. Advanced age (35 years or older) of the mother
  3. Unsuccessful I VF cycles
  4. Severe male factor infertility (this may include problems related to sperm production, the anatomy or structure of the man's reproductive organs, or the man’s immune system)
  5. Unexplained infertility

Embryos may be analyzed for chromosomal aneuploidy disorders, structural abnormalities, single gene disorders, or mitochondrial disorders. Partial lists of conditions that can be diagnosed with PGD are provided below. In addition to the disorders listed, technology is available to test for many more genetic diseases—a list that expands almost daily. If a specific genetic disorder exists in your family history, ask your physician about the availability of a test for that disorder.

Chromosomal Aneuploidy disorders

  • Chromosomes 13, 14, 15, 16, 17, 18, 21, 22, X, and Y
  • Chromosomes 13, 16, 18, X, and Y
  • Down syndrome
  • Turner syndrome
  • Klinefelter syndrome

Structural chromosomal abnormalities

  • Translocations
  • Deletions
  • Inversions
  • Duplications

Single gene disorders

  • Cystic fibrosis
  • Fragile X syndrome
  • Duchenne/Becker muscular dystrophy
  • Hemophilia
  • Myotonic dystrophy
  • Huntington disease
  • Charcot-Marie-Tooth disease
  • Thalassemia
  • Spinal muscular atrophy

Mitichondrial disorders

  • Oxidative phosphorylation disorders
  • Retinitis pigmentosa