PGD and chromosomal analysis results

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SoBayAsker
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PGD and chromosomal analysis results

Post by SoBayAsker » Mon Mar 24, 2014 3:49 pm

Is the PGD/PGS process informed by chromosomal analysis of the products of conception from a previous miscarriage? Or is there a standard protocol for all PGS?

Dr. Wisot
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Re: PGD and chromosomal analysis results

Post by Dr. Wisot » Tue Mar 25, 2014 9:15 am

When we order the genetics for PGS we generally ask for all chromosomes. If the previous problem was any trisomy it would be the standard array. They do not need to do what the specific abnormality was as they check all the chromosomes.

If it was the result of something else like a tranlocation or microdeletion, they would have to know.

For PGD for a single gene defect they would have to not only know the disease but have DNA samples from the affected individuals and possibly the parents to create a probe.

Arthur L. Wisot, M. D.
Reproductive Partners Medical Group
Redondo Beach, California

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Re: PGD and chromosomal analysis results

Post by SoBayAsker » Wed Mar 26, 2014 5:42 pm

Does genetic testing of the products of conception reveal translocations or microdeletions?

Dr. Wisot
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Re: PGD and chromosomal analysis results

Post by Dr. Wisot » Wed Mar 26, 2014 9:33 pm

That depends on how the assay is done. Translocations occur in the parents and result in unbalanced chromosomal material in the offspring. Miocroassays looking for microdeletions are relatively new and not routinely done on products of conception.

This can be very complex and requires a collaboration between doctors and genetic counselors.

Arthur L. Wisot, M. D.
Reproductive Partners Medical Group
Redondo Beach, California

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Re: PGD and chromosomal analysis results

Post by SoBayAsker » Fri Apr 04, 2014 5:47 pm

Chromosomal analysis results showed four copies of two different chromosomes. A few questions:

1. Does this sort of abnormality increase the likelihood of a future genetically abnormal pregnancy?
2. Is this problem independent of poor egg quality or sperm fragmentation?
3. This is my second early pregnancy loss, is RPL blood work still recommended?

Thank you.

Dr. Wisot
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Re: PGD and chromosomal analysis results

Post by Dr. Wisot » Sun Apr 06, 2014 9:19 am

1. Any chromosomal error increases the chances of another but what you describe is a common finding and will be detected by a regular array.

2. The chance is related to one's age which is a reflection of egg quality but not specifically DNA fragmentation in the sperm which is important but not in causing chromosome abnormalities.

3. It's not so important since you have a documented chromosomal reason but I would probably do it for completeness sake.

Arthur L. Wisot, M. D.
Reproductive Partners Medical Group
Redondo Beach, California

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Re: PGD and chromosomal analysis results

Post by SoBayAsker » Sun Apr 06, 2014 9:05 pm

Thanks, Dr. Wisot.

In regards to age, I'm 31 and my husband is nearly 40. We conceived on our own the first time. This last pregnancy, we used Clomid, trigger shot, and IUI after three cycles with Clomid alone. We'd like to try IUI again. Would your recommendation be different?

- Would injectibles plus IUI increase our chances of a normal pregnancy?
- At what point do you recommend IVF with PGD for someone with my history?

Dr. Wisot
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Re: PGD and chromosomal analysis results

Post by Dr. Wisot » Mon Apr 07, 2014 5:57 pm

I can't make specific recommendations but at your age and if your FSH is normal and if only one of the miscarriages had a documented chromosomal problem, trying conventional treatment makes sense.

Injectables would not significantly decrease the chances of a miscarriage since it has no effect on the chromosomes.

The use of IVF with PGS is usually when someone has had recurrent loss from chromosomes with no other reason for recurrent miscarriage and they cannot bear the thought of going through another miscarriage.

Arthur L. Wisot, M. D.
Reproductive Partners Medical Group
Redondo Beach, California

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