Please contact us at: 732-758-6511

Preimplantation Genetic Screening

Preimplantation Genetic Screening (PGS)

Preimplantation genetic screening (PGS) is a technique that can be incorporated into an IVF cycle to help identify embryos that may either carry a disease that can be inherited or a chromosome abnormality that could result in a miscarriage or birth defect.

PGS is recommended as a screening tool only. Patients who transfer embryos that have been evaluated with PGS are strongly recommended to follow up in the pregnancy with additional screening tests as recommended by their obstetrician.

Array Comparative Genomic Hybridization (a-CGH)

Screening for Aneuploidy and Translocations

We offer full 24 chromosome screening for aneuploidy and chromosome translocations using a technique called a-CGH. This type of screening amplifies the DNA present and looks for too much (more than two copies) or too little (less than two copies) of each chromosome. This type of screening looks only at the whole chromosome – not for an individual disease on a portion of a chromosome.



Translocations happen when a part of one chromosome is switched to another chromosome. The affected parent carries one copy of the translocated chromosomes and one copy of each unaffected chromosome. The other parent has two copies of each chromosome with no translocation.


As long as the switch or translocation is balanced the baby will be otherwise healthy and possibly carry the translocation themselves.  The embryos can carry a balanced translocation or they can carry one copy of the translocation and one copy of the unaffected chromosome.  That would be too much of one chromosome and not enough of the other. An unbalanced translocation would result in a miscarriage or the birth of a child with physical and / or mental handicaps.

Screening for Single Gene Disorders

a-CGH can also be used to look for a specific genetic disease located on a section of a chromosome. This type of testing requires a genetic history and blood samples from the  affected individual. Sometimes blood or cheek swabs are requested from family members to help build a more accurate probe. Once the genetics lab constructs the probe specific to your mutation; the DNA from the embryos is screened for that mutation. The embryos can then be identified as unaffected, a carrier of the disorder or affected (the disease would be express in the child).

Fluorescence In-Situ Hybridization (FISH)

Some couples choose IVF with PGS to identify the gender or sex of the embryos before it is implanted for a pregnancy. In this situation it is not necessary to perform a full 24 chromosome panel and patients may elect to use a 5 panel test where the chromosomes are labeled with different colors. The results are the identification of the most common aneuploidies that can cause miscarriage or a live born baby with physical and / or mental handicaps as well as the sex of the baby.

Why it is done

Prior to starting medication for an IVF cycle a patient is counseled on the risks and benefits of PGS by Dr. Damien. Some indications for PGS are the following:

  • History of multiple pregnancy losses (more than 3 miscarriages).
  • History of a child born to a couple with a genetically linked disease.
  • History of a child born to a couple with a chromosomal abnormality

Some couples may also elect to undergo PGS to identify the gender of an embryo:

  • To avoid a sex-linked disorder such as Hemophilia (expressed primarily in boys)
  • Family balancing

What you need to do

Once an IVF cycle is designated to be using PGS, you as the patient need to do the following:

1. Meet with Robert or Micaela, our benefits and billing coordinators. They will review your financial obligations to Damien Fertility Partners with respect to the PGS procedure.

2. Contact the appropriate laboratory performing the analysis. You are responsible for arranging a separate payment to the diagnostic laboratory prior to the procedure. Damien Fertility Partners works with two nationally recognized laboratories for their genetic screening.

Reprogenetics Aneuploidy and translocations
1888-PGD-NOW1
http://www.reprogenetics.com
Genesis Genetics Single Gene Defects
(313) 544-4006
http://www.genesisgenetics.org

3. Sign all appropriate consents related to the type of PGS being performed. These will be presented to you at the time you decide to use PGS with your IVF cycle.

4. If you are using PGS to identify a translocation or single gene disease, bloodwork needs to be collected prior to starting medications. This may affect when you can begin your IVF cycle as the diagnostic lab will need to prepare unique probes for your embryos.

5. Contact the appropriate diagnostic lab to arrange a genetic consultation. These usually take place with the genetic counselor over the phone and last approximately 20-45 minutes. It is recommended that your partner be a part of the conversation as the counselor will ask the genetic background of both biological parents.

How it is done

On the third day of embryo development embryos are evaluated. These embryos can come from either:

  • A current or fresh IVF cycle where the eggs are collected and fertilized.
  • Thawed for an FET cycle where embryos were created from a prior IVF cycle and frozen on day 3 of development.

The embryo is placed under a microscope and a hole is made in the zona pellucida or shell of the embryo in order to gain access to the cells inside.

A biopsy needle is placed at the opening in the shell and cell is selected to be removed. When choosing the cell, the embryologist will pick a cell that has an obvious nucleus.  The nucleus is where the chromosomes are located.
Gentle suction is applied to the cell and it is slowly removed from the embryo.
Finally the cell is completely removed from the embryo. The embryo is removed from the biopsy area and placed back into the incubator to continue growing until day 5 of development.
The results are communicated to Damien Fertility Partners on day 4 or 5 of embryo development. Patients are usually asked to return to the office on day 5. The genetic information is reviewed by Dr. Damien and is matched with the development of the embryo.

In order for an embryo to be replaced for transfer or frozen for later use it must have continued to develop in an appropriate manner. This will be reviewed with you just prior to an embryo transfer.

It is possible that either there are no embryos that are genetically appropriate for transfer and/ or developing as expected. In this instance a transfer will not take place and the patient will be counseled appropriately as to what to do next.

Embryos that appear to be high quality may in fact not be suitable for transfer. It is, therefore, not possible to predict the outcome of a biopsy on day 3 based on the morphology of an embryo. As soon as results are available we will share them with you.

Shrewsbury

Damien Fertility Partners
655 Shrewsbury Avenue
Shrewsbury, NJ 07702
Phone: 732-758-6511
Fax: 732-758-1048

Newark

Damien Fertility Partners
60 Park Place, Suite 210
Newark, NJ 07102
Phone: 973-732-2909
Fax: 732-758-1048