Fertility Solutions: Official Blog

Live, Online Seminar Q & A: Preimplantation Genetic Diagnosis

Posted in IVF, Live Online Seminar: Q & A | Tagged infertility, IVF, PGD, Preimplantation Genetic Diagnosis January 13, 2012

Each month we host a free, live online seminar where patients can ask the physicians of Fertility Solutions questions about infertility. The seminar for January was about 'Preimplantation Genetic Diagnosis (PGD)'. Topics change monthly, with our last two seminars focusing on endometriosis and unexplained infertility. View the live Q & A chat about PGD below:

(01/11/2012)

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7:04

Anne Devi Wold, MD:

We will discuss pre implantation genetic diagnosis and screening in IVF. Please feel free to share any comments or concerns.

Wednesday January 11, 2012 7:04 Anne Devi Wold, MD

7:09

Anne Devi Wold, MD:

PGD or sometimes PGS is used to screen embryos that have a specific genetic abnormality. This would prevent the couple from having a child with the affected disease. The testing is available for any genetic disease where a gene is specifically known. It also can be used to screen for all chromosome abnormalities in women who are older than 35 or who have experienced recurrent pregnancy loss

Wednesday January 11, 2012 7:09 Anne Devi Wold, MD

7:09

Anne Devi Wold, MD:

Any questions?

Wednesday January 11, 2012 7:09 Anne Devi Wold, MD

7:13

Anne Devi Wold, MD:

CGH is fairly new technology that allows us to screen one single cell from an embryo for all genetic abnormalities. The false positive is lab dependent but is estimated to be between 5-10%.

Wednesday January 11, 2012 7:13 Anne Devi Wold, MD

7:16

Anne Devi Wold, MD:

This depends on why you are using PGD or PGS. Fro example: if you and partner carry a gene that could create a lethal disease to your infant, you may want to screen all the embryos you can produce. Again, if the issue is pregnancy loss but no specific diagnosis, than you would want more embryos. IT IS ESTIMATED THAT MORE THAN 80% OF EGGS IN WOMEN OVER 40 ARE ABNORMAL

Wednesday January 11, 2012 7:16 Anne Devi Wold, MD

7:16

Anne Devi Wold, MD:

This means that if you have less than 5 embryos to biopsy, you may end up with nothing to transfer.

Wednesday January 11, 2012 7:16 Anne Devi Wold, MD

7:18

Anne Devi Wold, MD:

Probably less. The labs usually tend to err more on the false positive side. In doubt, they are more likely to fail and embryo abnormal to avoid a transfer that could result is an affected child

Wednesday January 11, 2012 7:18 Anne Devi Wold, MD

7:20

Anne Devi Wold, MD:

CGH and FISH can also be used to detect genetic abnormalities on miscarriages. They are very effective here because there is more cellular material and more DNA

Wednesday January 11, 2012 7:20 Anne Devi Wold, MD

7:24

Anne Devi Wold, MD:

FISH means fluorescence in situ hybridization. Genetic marker for the most common chromosomes are painted with different colors and embryos are tested for 5 to a maximum of 11 chromosomes. It is dependent on the amount of fuorochromed or color that the human eye can handle. In other words with FISH we are not looking at all the 23 pairs of chromosomes

CGH is based on gene chip technology and allows us to amplify a single cell and look for abnormalities in all 23 chromosomes. it is more efficient an has only become more available for clinical use in the last 5 years.

Wednesday January 11, 2012 7:24 Anne Devi Wold, MD

7:26

Anne Devi Wold, MD:

There are many labs offering PGD and PGS. Most IVF labs will perform the biopsy of the embryo and send the slide to bid molecular genetic labs that can turn out result sin 24 hours while the embryos remain in culture. Once we know the status of each embryo we are able to choose the unaffected to transfer into the uterus

Wednesday January 11, 2012 7:26 Anne Devi Wold, MD

7:29

Anne Devi Wold, MD:

How much do you believe this technology would cost?

Wednesday January 11, 2012 7:29 Anne Devi Wold, MD

7:31

How much do you think it costs to have PGS or PGD?

5,000

( 100% )

1,000

( 0% )

Covered by insurance

( 0% )

Not covered by insurance

( 0% )

Don't know

( 0% )

Wednesday January 11, 2012 7:31

7:33

Anne Devi Wold, MD:

CGH for chromosome abnormalities costs typically around 5,000.00 dollars in most labs This includes testing, embryos biopsy and transport.

If the technology requires making specific probes for rare diseases it may cot more

Wednesday January 11, 2012 7:33 Anne Devi Wold, MD

7:36

Why are you looking for information on PGD?

My partner and I have are carriers for specific genetic disease

( 0% )

We have multiple failed IVF cycles

( 0% )

We have had many miscarriages

( 0% )

We are older

( 0% )

Don't' know

( 0% )

Wednesday January 11, 2012 7:36

7:36

Why are you looking for information on PGD?

My partner and I have are carriers for specific genetic disease

( 33% )

We have multiple failed IVF cycles

( 0% )

We have had many miscarriages

( 33% )

We are older

( 33% )

Don't' know

( 0% )

Wednesday January 11, 2012 7:36

7:39

Anne Devi Wold, MD:

It is covered by some insurance companies In MA. most insurances will cover PGD for specific disorders such as cystic fibrosis, muscular dystrophy, spinal muscular atrophy, etc. Most often they will not cover PGS (screening all chromosomes) unless member of the couple is carrier of a chromosome abnormality like trans-location

Wednesday January 11, 2012 7:39 Anne Devi Wold, MD

7:41

At what age would you consider PGS?

30

( 0% )

35

( 0% )

35-40Y

( 100% )

40y?

( 0% )

Wednesday January 11, 2012 7:41

7:42

Anne Devi Wold, MD:

Most often , the parents are tested first. If their chromosomes are normal, the testing would not be indicated and most insurances would not cover the expenses

Wednesday January 11, 2012 7:42 Anne Devi Wold, MD

7:44

Anne Devi Wold, MD:

Does the age of the father matter?

Wednesday January 11, 2012 7:44 Anne Devi Wold, MD

7:45

Do you believe the age of the father matters?

Yes

( 75% )

NO

( 25% )

Wednesday January 11, 2012 7:45

7:47

When is the father old ?

30y

( 0% )

30-35Y

( 0% )

40 -45y

( 67% )

50y

( 33% )

Do not know

( 0% )

Wednesday January 11, 2012 7:47

7:51

Anne Devi Wold, MD:

Unlike mothers, fathers are able to reproduce well into their 70' and 80's. Some studies suggest that older father (more than 40y-45y) contribute to pregnancy loss because of DNA fragmentation of sperm. There are also some genetic disorders such as Achondroplasia (dwarfism)that occur more frequently in offspring of older fathers

Wednesday January 11, 2012 7:51 Anne Devi Wold, MD

7:52

Do you believe that PGS should be allowed for gender selection

Yes

( 0% )

No

( 0% )

In some cases

( 0% )

No opinion

( 100% )

Wednesday January 11, 2012 7:52

7:54

Anne Devi Wold, MD:

Thank you all for your participation. Please follow us on Facebook and feel free to send any comments (positive or negative)

Wednesday January 11, 2012 7:54 Anne Devi Wold, MD

7:58

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