Why Is PGD/Preimplantation Genetic

Diagnosis Important for Couples?

This technique enables any couple that has a specific inherited disease within the family to
avoid passing it down to the children. If you know about a risk due to genetic abnormalities,
this can help prevent your child from having to be born with it. Through diagnostic testing,
doctors can determine whether there is any chance of your child of inheriting the genetic
disease.

How pre-implantation genetic diagnosis is

performed?
Some cells will be removed micro-surgically from an embryo of about five days into the
development stage, after which it can be frozen safely.

The cells DNA then gets evaluated to determine whether a problematic inheritance gene may
be present within every embryo, the process can last up to one week.

When PGD confirms or identifies that the embryo/s are free from problems genetically, then it
can be inserted into the womans uterus using an IVF procedure. After implantation, its
basically a waiting period for positive results of pregnancy.

Leftover embryos free from any genetic problems can be kept frozen. These could be used at a
later stage. However, problematic gene embryos will be destroyed.

Candidates that may benefit from such a procedure

Couples that are at a high risk to pass a genetic condition or disease onto their offspring.

It includes the following:

Any woman that failed more than 1 treatment of fertility

In the case where she experiences continuous miscarriages

Women of thirty-five years of age or older

People that suffer from chromosomal disorders

Single gene disorder carriers

With genetic sex-linked disorder carriers

This procedure can also be used with gender selection, although some people feel to discard
embryos only based on consideration of gender is not ethical.

Benefits of pre-implantation genetic diagnosis

This procedure will enable any couple pursuing to have children biologically, where it would
not have been possible otherwise.

Its usually performed prior to implantation which means a couple may be allowed to decide
whether they want to carry on with a pregnancy.

Through a PGD procedure, its possible to test and diagnosed over hundred different conditions
genetically.

Disadvantages that is associated with the procedure

Remember that PGD doesnt replace pre-natal testing recommendations.

Some genetic diseases that are present, may only cause symptoms if a person reaches his/her
middle ages. Therefore, this probability to develop a disorder needs to be discussed with your
doctor.

While this procedure can reduce any chances to conceive a baby that carries some disorders
genetically, it might not be possible to eliminate the risk completely. Sometimes, its necessary
to do more testing during the pregnancy period to make ensure there is no genetic factor there.

The way embryos will be chosen to transfer

All embryos that present a normal appearance with test results might get transferred into a
FET/frozen embryo transfer cycle. The appearance of embryos can be a great help to select
embryos that are best to transfer. Yet, it has been noted that some embryos with many
chromosome abnormalities have appeared normal.
This is the reason why PGD should be used, results can identify those that will be the best for
transferring it into a womans uterus. A combination of a normal appearance and genetic testing
can indicate the best chance for carrying a child that is healthy.

Decisions about which of the embryos must be transferred into the uterus, plus, what to do with
the rest will be a choice made between the doctor and yourself.

What steps are followed with PGD in an IVF cycle?

Once the embryos are created within a laboratory, its left for between 5 6 days to grow.
During day 5 and 6 a PGD biopsy will be performed on embryos that developed appropriately.
These biopsies involve the removing of some cells from your embryos cell layer that has
started to hatch during the development stage.

Embryos will be stored appropriately while testing for any abnormalities in the cells genetic
material that was extracted. The results of the PGD testing is discussed with the couple/woman.
After this, the frozen embryo that is chosen can be transferred with an IVF procedure. The
decision of selecting an embryo usually will be made with advice from a genetics and medical
team.