Preimplantation Genetic Screening
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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.
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 or 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 East Coast Infertility
and IVF in 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. East Coast Infertility and IVF works with two nationally recognized laboratories for their genetic screening.
Reprogenetics Genesis Genetics
Aneuploidy and translocations Single Gene Defects
1888-PGD-NOW1 (313) 544-4006
http://www.reprogenetics.com/ 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
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.
Gentle suction is applied to the cell and it is slowly removed from the embryo.
A biopsy needle is placed at the opening in the shell and cell is selected to be removed.
The nucleus – where the chromosomes are located – for the cell should be easily
identified in the cell.
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.
The results are communicated to East Coast Infertility and IVF 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 Dr. Hartog 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 looks of an embryo. As soon as results are available we will make all efforts to share them with you.