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July 2007 Archives

July 31, 2007

In response to comment - male fertility issues

I received a comment which mentioned society's tendency to "place the blame" for fertility issues entirely upon women. I treat couples struggling with infertility every day, and I want to reiterate that infertility is an issue that affects both the husband and the wife in the relationship. Whether it is the male, female, or both partner(S) who are experiencing trouble conceiving, together, they must tackle the many challenges associated with fertility treatment. The term "blame" can sound inflammatory when used in reference to a condition that is no one's "fault", such as infertility. Certainly, when the couple becomes pregnant, it is both the mother and father who experience happiness and joy surrounding new parenthood. To further elucidate this matter, I have reposted an article that I put on here a few months back. The New York Times article discusses men and their fertility clock, which has commonly been thought of as a "female concern".

From the New York Times,

________________________________________
February 27, 2007
It Seems the Fertility Clock Ticks for Men, Too
By RONI RABIN
When it comes to fertility and the prospect of having normal babies, it has always been assumed that men have no biological clock — that unlike women, they can have it all, at any age.
But mounting evidence is raising questions about that assumption, suggesting that as men get older, they face an increased risk of fathering children with abnormalities. Several recent studies are starting to persuade many doctors that men should not be too cavalier about postponing marriage and children.
Until now, the problems known to occur more often with advanced paternal age were so rare they received scant public attention. The newer studies were alarming because they found higher rates of more common conditions — including autism and schizophrenia — in offspring born to men in their middle and late 40s. A number of studies also suggest that male fertility may diminish with age.
“Obviously there is a difference between men and women; women simply can’t have children after a certain age,” said Dr. Harry Fisch, director of the Male Reproductive Center at New York-Presbyterian Hospital/Columbia University Medical Center and the author of “The Male Biological Clock.”
“But not every man can be guaranteed that everything’s going to be fine,” Dr. Fisch said. “Fertility will drop for some men, others will maintain their fertility but not to the same degree, and there is an increased risk of genetic abnormalities.”
It’s a touchy subject. “Advanced maternal age” is formally defined: women who are 35 or older when they deliver their baby may have “A.M.A.” stamped on their medical files to call attention to the higher risks they face. But the concept of “advanced paternal age” is murky. Many experts are skeptical about the latest findings, and doctors appear to be in no rush to set age guidelines or safety perimeters for would-be fathers, content instead to issue vague sooner-rather-than-later warnings.
Article continues, for the full article, please see the link below (subscription may be required):http://www.nytimes.com/2007/02/27/health/27sper.html?_r=1&ref=science&oref=slogin

July 25, 2007

PGD to Screen for Huntington's Disease - Dr. Werlin in the News

I previously wrote about one couple’s touching story on their use of PGD to screen for Huntington’s Disease.

An in-depth article recently appeared on the front page of the Orange County Register which chronicled their journey and provides some additional insights into the PGD process.

How an HB couple sidestepped Huntington's disease
Genetic screening to weed out embryos that harbor abnormalities can help parents protect their children's futures. But critics contend the procedure serves as selective breeding.

By BLYTHE BERNHARD
The Orange County Register
Like all new parents, Stacy and Mitch Brookhyser wonder who their baby girls will grow up to be. Where will they go to school? What jobs will they choose? Who will they marry?
But there's one question they don't have to ask – whether the girls inherited a defective gene from their mother.
The Brookhysers went through in-vitro fertilization and genetic screening of their embryos to ensure their twins, Roxanne and Laurel, now 9 months old, would not develop Huntington's disease.
"We cared about our kids before we ever had them," said Stacy Brookhyser. "Doing this doesn't mean our children are perfect. It just means this is one less thing to worry about."
Hundreds of babies have been born across the country through pre-implantation genetic diagnosis – selecting certain embryos over others to weed out genetic abnormalities from muscular dystrophy to hemophilia.
For a fatal disease like Huntington's, eliminating affected embryos is currently the only hope for a "cure."

You can read the full article online at:
http://www.ocregister.com/news/screening-embryo-embryos-1768486-disease-brookhysers

July 20, 2007

In Response to “In Vitro Fertilization with Preimplantation Genetic Screening”

In Response to “In Vitro Fertilization with Preimplantation Genetic Screening”
By Lawrence B. Werlin, M.D., F.A.C.O.G.

A recently published study in the New England Journal of Medicine (Mastenbroek et al, July 2007) introduced questionable statements about the validity of Preimplantation Genetic Diagnosis (PGD) as a tool for aneuploidy screening and enhancing the pregnancy outcomes of women of advanced maternal age. Although the intent of the study appears inherently good, the techniques used and conclusions drawn from the randomized, prospective, double-blind study reveal three areas of concern: the number of embryos tested that yielded “undetermined” results, the number of chromosomes analyzed in the study, and the undefined number of cells biopsied from the embryos.
The study cites the number of fluorescence in situ hybridization (FISH) embryos with undetermined results at 20.1 percent. Because 20 percent represents a large number in this and any study, one must question why the study’s researchers failed to biopsy, couldn’t get a nucleus, obtained incomplete nucleus’ or failed to do FISH. This number may speak to the technique of those conducting the biopsy or the fixation of the cell. In the hands of an experienced person who does biopsy and fixation, a typical “undetermined” rate is less than five percent. Clearly, a result rate as high as 20 percent points to faulty technique – which could have affected the ability of the embryo and its ultimate potential for long-term development.
The authors of the study also discuss embryos in which no biopsy was performed stating, “Embryos on which no biopsy was performed because they contained fewer than four blastomeres were also categorized as undetermined.” It is possible, then, that these embryos may have been replaced because a biopsy was not possible with fewer than four blastomeres. When looking at embryos, at least for the past seven years, fertility specialists and researchers have looked at a minimum of nine chromosomes. For the past year and a half, that number has been at least 12 chromosomes (8, 13, 14, 15, 16, 17, 18, 20, 21, 22, X and Y). The study looks at eight chromosomes (1, 13, 16, 17, 18, 21, X and Y) and one of these is chromosome #1, which is ordinarily not tested. Screening just seven chromosomes, in essence, eliminates the possibility of screening chromosomes that could be factors for aneuploidies.
“A biopsy of a second blastomere was performed only if no nucleus suitable for fluorescence in situ hybridization (FISH) was available after fixation of the first blastomere and only if the remaining embryo contained at least four blastomeres,” states the study, which fails to quantify these occurrences. Also unknown are the results associated with two cells embryo biopsies versus single-cell biopsies. Returning to an embryo to take a second cell imparts trauma on the embryo. The study only makes clear that a biopsy of a second blastomere was performed if it was an undetermined cell. As an example, it the embryo was a five cell and the study’s authors couldn’t get a read, they could go back and biopsy it because there were four cells left to biopsy. But what they don’t reveal to the reader, is how many cases this applied to, on how many embryos this was done and what the results were.
It is difficult to draw conclusions from a study where 20 percent of the embryos are undetermined. Conclusions based on this data aren’t appropriate. It is significant to point out the difference in results when using an 8-cell embryo. When one cell is biopsied from an 8-cell embryo, 12-13 percent of the embryo is removed. If two cells are taken from that embryo, 25 percent of the embryo is removed – and that makes a difference. The study fails to address this. It states that this may have been done (2-cell analysis), but doesn’t state how many this applies to and what in fact, those results were. “When planning PGD for infertility, the number of cells to be biopsied must be considered carefully,” explains Dr. Santiago Munné, an award-winning and internationally recognized leader in reproductive medicine research, director of Preimplantation Genetic Diagnosis at Reprogenetics, LLC and the co-author of a noted study on the subject.

Removal of up to one-third to one-half of embryonic tissue versus a single cell may be the defining difference in the embryo’s ability to continue to develop and divide appropriately. For women of advanced maternal age, who mainly comprise a high-risk group of patients for whom there is increased risk for chromosomal abnormality – PGD serves another function. When observing embryos for high-risk groups, such as women of advanced maternal age, women with recurrent pregnancy loss, women with two or more failed in-vitro fertilization (IVF) cycles and couples where the male has severe male factor; 25 to 30 percent of these patient have all embryos abnormal. Thus, PGD allows patients within these high-risk groups an assessment on their likelihood of conceiving and consideration of alternative options.

In instances where aneuploidy is consistent, PGD can help women turn a corner from their painful position of, “If I just keep trying IVF, I will eventually get pregnant.” The technique provides answers that allow these women to search for other options such as traditional adoption, use of donor eggs or donor embryos. Of course, every patient’s case needs to be evaluated on an individual basis and no process is 100 percent accurate; however, PGD can be beneficial for a number of reasons – including its ability to answer patient queries as to why they haven’t conceived in the past or why repetitive results may indicate a need to look at other options.

Clearly, there need to be guidelines for how PGD is used. But through application of the technique, multifetal gestational rates can effectively be reduced and the likelihood of a pregnancy resulting in twins and triplets can be dramatically reduced.

The impact that an embryo experiences from removal of its genetic material deserves greater attention. Attributing results of the New England Journal of Medicine study to the PGD pregnancy rates of all patients, becomes an apples-to-oranges comparison – one that acts as a disservice to the thousands of couples nationwide who aspire to build a family through advanced reproductive technologies.

July 2, 2007

Call for Stories

Inspiration strikes people in different ways. Over the years, I’ve drawn inspiration from the unwavering spirit of Coastal’s would-be parents. Each person and couple has had a truly touching and remarkable story to share about their journey to parenthood, and it’s provided me with unending inspiration and motivation to persevere through the challenges and triumphs that inevitably accompany the quest to build a family. I often have the pleasure of hearing from patients about how they’ve been inspired by others in this same way, which is why I’d like to invite you to participate in Coastal’s blog—a place where your own story has the potential to inspire other future parents...

Please post a comment to share your stories with us. We look forward to hearing from you!

About July 2007

This page contains all entries posted to Dr. Werlin's Fertility World in July 2007. They are listed from oldest to newest.

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