Improve Your Chances of Conceiving a Healthy Baby with Preimplantation Genetic Screening/Diagnosis

Preimplantation genetic screening (PGS) is a method of determining the genetic profile of embryos prior to transfer to the uterus.  To perform PGS cells are removed from a blastocyst stage embryo on the 5th or 6th day after IVF in order to evaluate its genetic makeup.  The cells are frozen and shipped to a national genetics laboratory. The embryos remain frozen while the testing is being performed, for transfer in a future cycle.  PGS is indicated to rule out genetic abnormalities in patients at risk because of age or with the inheritable genetic diseases. PGS is only 95 percent accurate because the cells that will form the placenta and the cells that will form the baby can have a different genetic makeup. FINO has offered PGS to its IVF patients since 2004

Many couples and women who choose to undergo in vitro fertilization (IVF) may be at risk for passing on heritable genetic disorders and can greatly benefit from a screening test that can identify affected embryos. PGS, performed at our centers, is an optional diagnostic test that can be performed during the IVF process to detect the presence of many genetic abnormalities.

If you or your partner has a family history of one or more heritable genetic disorders, PGS can provide you with the peace of mind you need. PGS is available to any of our patients who feel it may be beneficial. If you think that you could be at risk for passing on an inherited condition and would like more information about PGS testing, please contact our office to schedule a consultation.

The PGS Method

To understand PGS' role in infertility treatment, it helps to first understand how IVF works. After a semen sample is obtained, either from the male partner or a donor, it is combined with eggs outside the mother's body. PGS is performed after fertilization has taken place, but before implantation occurs (when the embryo is transferred to the mother's uterus). When the embryos reach the blastocyst stage on day 5 or 6, eight cells will be removed for DNA sequencing and molecular testing to determine if an abnormal chromosome is present. After the results have been obtained, healthy embryos that are not affected by the specific genetic disorder will be selected for transfer to the mother's body.

PGS Benefits

PGS is performed before the embryo is implanted in the uterus. This reduces the need to perform an amniocentesis later and allows the mother the opportunity to decide if she wishes to continue with the pregnancy before it is established. PGS also reduces the risks associated with multiple pregnancies because the test can identify healthy embryos for implantation, allowing our doctors to select a single embryo for transfer. This step also minimizes the risk of miscarriage.

Indications & Candidacy for PGD

Preimplantation genetic diagnosis (PGD) is primarily used at The Fertility Institute for patients who are at risk for passing on inherited genetic disorders. Women over the age of 35, carriers of sex-linked disorders, and carriers of single gene defects may be good candidates for PGD.

PGD testing can indicate the presence of many conditions, including:

  • Cystic Fibrosis
  • Tay-Sachs Disease
  • Beta Thalassemia
  • Muscular Dystrophy
  • Hemophilia
  • Fragile X Syndrome
  • Rett Syndrome
  • Huntington's Disease
  • Sickle Cell Anemia
  • Down's Syndrome

As PGD technology continues to improve, it is becoming possible to identify the presence of a growing range of disorders. If you feel that you are at risk for passing on any conditions to your children, please talk to one of our specialists about the different options that we have available to our patients.


Schedule a Consultation

PGS has already helped thousands of women and couples make the most informed decisions about their futures and their families. If you would like to speak to one of our doctors and find out more information about PGD, please make an appointment today.

PGS - An Overview