What are the Benefits of Pre Genetic Testing?

Pre genetic testing (PGT) is a laboratory procedure by which an embryologist removes one or two cells from an embryo and screens the removed cells for genetic abnormalities. PGT is invaluable for all patients and is typically performed in conjunction with a patient’s in vitro fertilization (IVF) treatment while the embryo is developing in the fertility clinic’s laboratory.

Benefits of PGT

PGT affords you the opportunity to have your embryos tested for abnormal chromosomes before they are transferred into your uterus via IVF.

After a diagnosis is made by way of PGT, only a genetically healthy embryo will be transferred into your uterus where hopefully it will attach to your uterine lining and develop into a healthy baby.

Genetic Testing Types

Hereditary disease. The biopsied cells from an embryo can be tested for a gene that has the tendency to produce a particular hereditary disease.

  • Normal embryo – no hereditary disease
  • Affected embryo – hereditary disease is present

A person who may be an unaffected carrier of a hereditary disease is one who has the ability to pass the disease on to his/her children without personally being affected with the typical signs and symptoms of the disease.

Chromosomal defect. Another type of genetic test is a karyotype that checks for chromosome abnormalities in a fetus during a pregnancy by way of a villus sampling or amniocentesis.

  • More than 46 chromosomes – indicative of Down syndrome
  • Less than 46 chromosomes – indicative of Down syndrome
  • Out of order chromosomes (translocations) – indicative of problems with growth or function

Preimplantation Genetic Diagnosis (PGD) and Preimplantation Genetic Screening (PGS)

Before an embryo is transferred into a woman’s uterus, it can be biopsied and can undergo preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS) to identify and screen out embryos affected by a genetic disease or chromosomal abnormality.

An embryo with a genetic disease or chromosomal abnormalities typically will not attach to the lining of a woman’s uterus. If an abnormal embryo does attach, it will likely miscarry.

Preimplantation genetic screening (PGS) is the laboratory procedure used to test an embryo for hereditary disease or chromosomal abnormalities because:

  • All women have some percentage of eggs that are abnormal
  • All men have some percentage of sperm that are abnormal

The percentage of abnormal embryos produced result from a variety of factors that include the age and health history of the parents.

Kofinas Fertility Institute Specializes in PGT

Dr. George Kofinas is a pioneering doctor in Assisted Reproductive Technology (ART) including the specialization of state of the art PGT testing techniques such as microarray and genome sequencing.

Dr. Kofinas favors PGT for:

  • Patients who have or are carriers of a known genetic disorder
  • Patients who have experienced recurrent miscarriage
  • Patients who are in their advanced maternal years
  • Patients whose ovaries are not functioning optimally
  • Patients who have had multiple failed infertility treatments

To receive the answers to the questions you have about the benefits of PGT, please accept this invitation to contact Kofinas Fertility Institute.