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Archive for the ‘pre-embryo genetic screening’ tag

IVF and Comprehensive Chromosomal Screening (CCS) a/k/a Pre-embryo Genetic Screening (PGS)

By David Kreiner MD

January 20th, 2016 at 1:55 pm

 

credit T. Minella

In 1985, when I started my fellowship training at the Jones Institute, IVF technology was so new that we numbered each baby that was born as a result of IVF and it was still in double digits. People came to us for IVF from all over the world because our success rate was the best — at that time, just 15 percent.

The technology of IVF was so inefficient then, it was routine to transfer six embryos at a time. That’s what it typically took to create a singleton pregnancy. Sometimes the result was multiples. My experience with multiple pregnancies in those early years opened my eyes and heart to the additional struggles that accompanied patients’ tremendous joy at finally being pregnant.

With the discoveries and improvements in both clinical and laboratory procedures and techniques in the early 2000’s, success rates for IVF boomed… allowing for the transfer of a much more limited number of embryos that depended on patient age and embryo quality. Ultimately, the goal was Single Embryo Transfer (SET), the transfer of one high quality embryo to eliminate the additional risks associated with multiple pregnancies.

The challenge has been that, despite the transfer of an embryo that appeared of highest quality, one could not tell by simply looking under the microscope that the embryo was genetically normal. Abnormal embryos were not just less likely to implant, but if they did, would miscarry or result in an abnormal fetus.

Technology to test embryos with CCS to determine if they were chromosomally normal before transferring them into the uterus has been available for over 10 years but previously the test was often inconclusive, occasionally inaccurate, and potentially hazardous to the embryos. In addition, the test cost between $5000 and $7000. Today, CCS (also known as PGS) has improved to the point that it is nearly 100% accurate and rarely inconclusive or damaging to embryos and the cost is generally not significantly more than $3000, depending on the number of embryos tested.

Incorporating CCS/PGS into IVF will increase the ability for a patient to achieve a live birth of a normal healthy baby while minimizing the risk for a miscarriage and to do so in fewer embryo transfers since only normal healthy embryos need be transferred. It is envisioned that the additional cost of PGS will be offset by virtue of going through fewer frozen embryo transfers .

These 30 years, I have seen a number of game changers in IVF.  CCS/PGS may be among the most significant.

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Would you consider using CCS/PGD?

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Long Island IVF and the ASRM 2012

By David Kreiner MD

November 5th, 2012 at 10:08 pm

Annually, reproductive endocrinologists and fertility experts from all over the world converge for information sharing and presentations of the most recent scientific advances in our field.  This year, the American Society for Reproductive Medicine (ASRM) meeting took place in San Diego, in a venue that was fertile ground for the growth and development of reproductive medicine.

Among the most exciting topics was the use of pre-implantation genetic screening (PGS) of embryos to improve IVF live birth rates and eliminate miscarriages.  Aneuploidy, the presence of chromosomally abnormal embryos, may be diagnosed through PGS with techniques that can analyze all 23 pairs of chromosomes.  One such method, aCGH (microarray comparative genomic hybridization), is available in most labs on day 3 cleaved biopsies as well as blastocyst biopsies.

The biopsied embryos can be determined to be euploid (chromosomally normal) or aneuploid.  Transfer then can be limited to only the euploid embryos which will eliminate most miscarriages and potentially improve the live birth rate.  This is especially useful in cases of repeat miscarriages and repeat implantation failures.

Whether to have the embryos biopsied on day 3 or day 5 depends on a few factors:

1-         Day 3 biopsy is a somewhat more invasive procedure with a higher rate of mosaicism (embryos containing multiple cell lines) leading to occasional false positive results.

2-         Day 5 biopsies are less likely to lead to fresh transfers.  Success is dependent on the survival of thawed frozen blastocysts.  The recommended form of blastocyst freezing is through vitrification.

Since most miscarriages are the result of implanted aneuploid embryos, we hypothesize that if we add PGS to an IVF protocol we can prevent most miscarriages.

In one study where PGS was performed as an adjunct to IVF/ICSI for patients with recurrent miscarriages (>2miscarriages), it was found that 53.7% of embryos studied were aneuploid in patients with a mean age of 37.5.  In 21.4% of all cases studied all the embryos from the IVF cycle were found to be aneuploid.

I recommend that you ask your physician whether PGS would be useful in your case.

 

 

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PGS May Help Eliminate Recurrent Miscarriages

By Dr. David Kreiner

March 1st, 2012 at 6:25 pm

Some news is worth repeating on occasion. Grab your coffee and settle in for an interesting and hopeful post from Long Island IVF’s Dr. Kreiner:

Pre-embryo genetic screening (PGS) was developed to help weed out embryos containing inherited metabolic disorders and genetic abnormalities prior to implantation. It was thought that PGS could be used to minimize the risk of miscarriage and perhaps even increase live birth rates in older women IVF undergoing .

We have thus far been disappointed in our results obtained using the FISH technique, the procedure performed for PGS for the past decade and a half. But an alternative new technology that was recently developed makes me very excited about PGS once again: Array Comparative Genomic Hybridization (aCGH).

ACGH is a technique actually applied to detect deficiencies and excesses of genetic material in the chromosomes. DNA from a test sample and a normal reference sample are labeled using colored fluorophores that hybridize to several thousand probes. These probes are created from most of the known genes of the genome and placed on a glass slide.

The differential color of the test compared to the normal sample DNA reflects the amount of DNA in the test specimen. It can pick up monosomies, trisomies or significant deletions on an embryo’s chromosomes.

The first baby born from this procedure was in September 2009 to a 41-year old woman. When aCGH is performed on a Blastocyst biopsy, it is effective in screening out mosaicism (mixed cell lines in the same organism). ACGH is 20 percent more sensitive than the best FISH assays with an error rate of two to four percent. Fifty percent of the embryos tested were normal with pregnancy rates exceeding Blast transfers without aCGH screening.

So, who could benefit from using this newer technology?

1. Patients with repeat miscarriages can eliminate up to 90 percent of their miscarriages.

2. Older patients who naturally have a higher percentage of genetically abnormal embryos may now screen for and only transfer their normal embryos.

3. Patients who want to maximize their success with a single embryo transfer.

4. Patients who have experienced repeat implantation failure can be screened for genetically abnormal embryos.

This technology is available for about the same cost as the FISH procedure yet, since it is performed on a Blastocyst, it is safer with less effect on the integrity of the embryo and without significant risk of wrongly identifying abnormal embryos. A concern with FISH is that embryos identified as abnormal can actually result in a normal fetus. This risk is practically eliminated with aCGH and is another reason making it more successful.

I expect PGS will now become a commonly used addition to standard IVF to promote more successful single embryo transfer, improve success in older patients, eliminate miscarriages and treat patients with repeat implantation failure.

We are approaching a new era in IVF. Brace yourselves for a thrilling ride into IVF’s future.

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Embryo Screening for Genetic Defects is Available

By Tracey Minella and David Kreiner MD

November 17th, 2011 at 4:15 pm

When IVF first hit the news with the birth of the first “test tube baby” in 1978, people were amazed, but also skeptical, and even a bit frightened. Conservatives and religious objectors went nuts over the idea of creating life outside the womb.

Today, IVF is almost as common as root canal. It’s not science fiction anymore. In fact, at least 4 of the 29 kids in my daughter’s class are IVF babies. There are still opponents, for sure, but the “shock value” of plain ol’ IVF has passed to a great extent.

Yet, scientific advances in the field of reproductive endocrinology and genetics have brought technology and tools to the table that continues to amaze, and sometimes frighten the general public.

Now, pre-implantation screening exists that may dramatically improve IVF success rates in several different patient scenarios.

Dr. David Kreiner, of Long Island IVF and East Coast Fertility, describes this latest amazing development and how it may help IVF success rates soar. And it is now available to Long Island IVF and ECF’s IVF patients! Read on to see if it could benefit you!

As Dr. Kreiner explains:

Pre-embryo genetic screening (PGS) was developed to help weed out embryos containing inherited metabolic disorders and genetic abnormalities prior to implantation. It was thought that PGS could be used to minimize the risk of miscarriage and perhaps even increase live birth rates in older women undergoing IVF .

We have thus far been disappointed in our results obtained using the FISH technique, the procedure performed for PGS for the past decade and a half. But an alternative new technology that was recently developed makes me very excited about PGS once again: Array Comparative Genomic Hybridization (aCGH).

ACGH is a technique actually applied to detect deficiencies and excesses of genetic material in the chromosomes. DNA from a test sample and a normal reference sample are labeled using colored fluorophores that hybridize to several thousand probes. These probes are created from most of the known genes of the genome and placed on a glass slide.

The differential color of the test compared to the normal sample DNA reflects the amount of DNA in the test specimen. It can pick up monosomies, trisomies or significant deletions on an embryo’s chromosomes.

The first baby born from this procedure was in September 2009 to a 41-year old woman. When aCGH is performed on a Blastocyst biopsy, it is effective in screening out mosaicism (mixed cell lines in the same organism). ACGH is 20 percent more sensitive than the best FISH assays with an error rate of two to four percent. Fifty percent of the embryos tested were normal with pregnancy rates exceeding Blast transfers without aCGH screening.

So, who could benefit from using this new technology?

1. Patients with repeat miscarriages can eliminate up to 90 percent of their miscarriages.

2. Older patients who naturally have a higher percentage of genetically abnormal embryos may now screen for and only transfer their normal embryos.

3. Patients who want to maximize their success with a single embryo transfer.

4. Patients who have experienced repeat implantation failure can be screened for genetically abnormal embryos.

This technology is available for about the same cost as the FISH procedure yet, since it is performed on a Blastocyst, it is safer with less effect on the integrity of the embryo and without significant risk of wrongly identifying abnormal embryos. A concern with FISH is that embryos identified as abnormal can actually result in a normal fetus. This risk is practically eliminated with aCGH and is another reason making it more successful.

I expect PGS will now become a commonly-used addition to standard IVF to promote more successful single embryo transfers, improve success in older patients, eliminate miscarriages, and treat patients with repeat implantation failure.

We are approaching a new era in IVF. Brace yourselves for a thrilling ride into IVF’s future.

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What do you think about PGS?

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