Preimplantation Genetic Testing

Preimplantation Genetic Testing (PGT) in Tennessee

In fertility, it’s always better to know than to wonder what if. Preimplantation genetic testing helps spot gene mutations and increase the chances of a successful pregnancy.

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What is Preimplantation Genetic Testing (PGT)?

Preimplantation genetic testing is a series of tests that check for chromosomal abnormalities in embryos cultivated through in vitro fertilization (IVF). Although diagnoses are 98% accurate, prenatal testing later in pregnancy is strongly advised to confirm the diagnosis and review the number and structure of all chromosomes.

Why is PGT Used?

Sometimes, the cause of infertility and miscarriages can be due to genetic abnormalities in an embryo. PGT can be used to reduce the chances that an IVF cycle will fail, ultimately and hopefully resulting in a healthy pregnancy that’s carried to term.

Who Can Benefit from PGT?

Preimplantation genetic testing (PGT) is a way of safeguarding against genetic diseases or disorders before they are transferred into a woman’s uterus through in vitro fertilization (IVF). PGT is ideal for those who:

  • Want to increase their chances of a successful pregnancy
  • Have a history of a genetic disorder in their family
  • Are at an advanced maternal age
  • Have a history of miscarriage caused by genetic factors
  • Are interested in having a child whose bone marrow or blood matches a family member

What We Screen For

PGT can test for and potentially prevent many diseases and genetic disorders. Here are the most common abnormalities we test for at Tennessee Fertility Institute.

  1. Single Gene Defects

    These genetic conditions are caused by inheritance patterns (recessive or dominant) and can be passed on if they are prevalent in families. Some of the more common single-gene disorders include:

    • Tay-Sachs disease
    • Cystic fibrosis
    • Muscular dystrophy
    • Fragile X syndrome
    • Spinal muscular atrophy
  2. Chromosome Translocations

    Translocations occur when fragments or pieces of a chromosome break off and rearrange onto a different chromosome or rearrange within itself. There are two types:

    • Balanced translocations contain all genetic information, but pieces of chromosomes have switched places resulting in no gain or loss of chromosome material.
    • Unbalanced translocations result in an individual having more or less chromosomal material, thus causing genetic defects.
  3. Aneuploidy

    Humans have 46 chromosomes, and an embryo receives 23 chromosomes from each parent. This condition involves a cell or embryo that received too many or too few chromosomes. Aneuploidy disorders do not typically run in families and can include:

    • Down syndrome
    • Trisomy 18
    • Trisomy 13
    • Turner syndrome

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