Every year, several Pacific Fertility Center professionals participate in ASRM’s national meeting. They evaluate the research and share their findings with PFC and Fertility Flash.

Among those attending the conference from PFC were Dr. Philip Chenette and Dr. Isabelle Ryan and Peggy Orlin, MFT. Their reviews cover the following topics: Update #1: Ovarian Stimulation Techniques, Update #2: PGD and Aneuploidy Screening Techniques, Update #3: Egg Freezing, Update #4: Acupuncture, and Update #5: Men and ART.

Update #2: PGD and Aneuploidy Screening Techniques

Preimplantation genetic diagnosis (PGD) has been one of the hallmark technologies of modern reproductive medicine. The ability to look inside a cell, beyond its visual appearance to the actual genes controlling the cell, has provided insight into the workings of the embryo and a valuable clinical tool to improve fertility care.

The most common use of PGD is to count chromosomes using FISH probes. Using labels that glow under ultraviolet light, a limited number of chromosomes can be identified and counted. Missing or duplicated chromosomes are indicators of abnormalities in the embryo, a condition known as “aneuploidy.” FISH has a significant error rate, and while clinically useful, results must be interpreted with caution.

A new technique discussed at the ASRM meeting is SNP analysis. SNPs are common tags in DNA that can be measured by automated systems. Microarrays of thousands of SNPs have been prepared that provide a clear picture of the chromosome structure of a cell. Microarray-based aneuploidy screening has excellent reliability and accuracy, and holds enormous promise for identifying genetically normal embryos. This study represents the first validated method of analyzing the entire set of chromosomes in a single cell. Stay tuned for more on this exciting technology.

Array CGH uses thousands of very small DNA probes along with computer software to describe the structure of DNA in a single cell. A very sensitive test, it is fast enough to be used during an IVF treatment cycle, and far more accurate than conventional fluorescent probe (FISH) analysis. Array CGH may lead to improved IVF outcomes as embryos containing an error in any chromosome can be detected, which would allow better selection of healthy embryos.

PGD has proven useful for the treatment of recurrent miscarriage. In an analysis of 279 patients with recurrent miscarriage (women who had previously experienced 3-5 miscarriages), researchers in New Jersey found an improved miscarriage rate of 19.5% after PGD versus their 40.9% expected rate.

Philip Chenette, MD

Here are some images from the different techniques that can be used for gender selection

To read more about this process, see our Ask The Experts post

The U.S. marketplace is punctuated with products and services trying to lure desperate parents into believing that somehow, someway, it must be possible to predict and even select the outcome of the baby’s gender through various hocus pocus methods. Perhaps not coincidentally, many products and services, such as www.fortunebaby.com, appear to be subsidiaries of companies based in China and India where male babies are prized over baby girls.

In the line-up of such products, Baby Gender Mentor blood test hit the marketplace with great Public Relations fanfare including a brief interview on the Today Show and a headline in the Boston Globe. Sadly, both of these popular press outlets focused squarely on the debate about gender selection ethics and never seriously questioned the accuracy of such a test. As a result, millions of viewers and readers may have assumed the expensive test results were accurate. Acu-Gen charges $275 to mail order the test.

This was in June. Now, three months later, enough women who were lured into buying the test and assured by the company’s guarantee that it will reimburse misdiagnoses with 200% of their money back, are asserting the test doesn’t work. Many women are trying to get refunds and are being told by Acu-Gen that a “vanishing twin” may have caused the test to fail.

National Public Radio, taking a more critical stand, recently broadcasted a story pointing out that Acu-Gen offers little proof of its claims and admits that it is not required to undergo FDA testing to verify accuracy. On its web site, the company describes how the process purportedly works.

Gender-specific DNA from the fetus floats around in the mother’s blood stream after having crossed over the placental walls. The presence of the Y chromosome in the female blood via a finger-prick blood tests indicates a “male-positive” baby.

A visit to Acu-Gen’s Gender Mentor test web site reveals some other questionable assertions. Men are not allowed to be anywhere near the pregnant woman as she is having her blood drawn for the test. Acu-Gen also lists on its web site the names and publications of noted experts on fetal DNA testing, some whom NPR interviewed and deny any involvement with the company.

The notion that just five weeks into a pregnancy a simple blood test can accomplish what amniocentesis or ultrasound can do much later in a pregnancy is at this point wishful thinking. A dedicated web site: www.in-gender.com takes a more comprehensive and critical look at the claims of many sex-prediction and selection techniques and includes descriptions of the high-tech methods that do work.

– Eldon Schriock, MD

Q.
We recently had PGD performed, and it revealed that two abnormal embryos were developing beautifully and two genetically normal embryos had ceased developing. Why would the genetically normal embryos not develop in comparison to the genetically abnormal embryos? Would this be due to egg quality? Would the same results be expected for a future PGD procedure? Is it unlikely that a six-cell embryo that had not developed in two days would result in a pregnancy?

A.
I don’t have all the information needed to give you a complete answer but I’m going to assume that you are a typical IVF patient (in your late 30′s) and were doing PGD to eliminate embryos with chromosomal abnormalities or aneuploidy. During your IVF cycle the eggs that were harvested from your ovaries were inseminated and those that fertilized and continued to develop were analyzed genetically. Depending on your (maternal) age, somewhere around 50% of your eggs would have been genetically abnormal. The genetically abnormal embryos look and behave in the same way as normal embryos.

Most genetic abnormalities cause an embryo to fail at the time of implantation (5 or 6 days old) or cause a pregnancy to fail early (miscarriage). When we look at embryos under the microscope in the days leading up to transfer, there is no way of knowing which are genetically normal or abnormal. Both types of embryos grow and develop similarly. In fact, some embryos that we know are abnormal (e.g. resulting from an egg that is fertilized by 2 sperm) often develop faster and look more beautiful than normally fertilized embryos.

The egg is a very large cell and when it is released from the ovary it has already been programmed to develop for 3 or more days after fertilization. Mom pre-loads her eggs with the necessary information for this early development. In most cells, including sperm, there are internal checks to make sure that the cell is functioning normally and that it is genetically normal. Cells that are abnormal, commit suicide in a process that we call apoptosis. Eggs however, seem to have a very poor internal surveillance mechanism, and even those that are grossly abnormal (e.g. with a whole extra chromosome) can fertilize and develop even to the point of giving you a live child. Down syndrome is the classic example, although at least 75% of embryos affected with this condition miscarry early in pregnancy.

So, eggs are endowed at ovulation with the necessary information to keep them going and looking normal for days, regardless of their genetic constitution. There is no relationship between their genetic status and how beautiful they look in our petri dish. If there were, we wouldn’t need to do PGD. We can keep embryos alive in the laboratory for 5 or 6 days and some of the abnormal embryos might stop developing by that time. However, our experience with PGD over the years tells us that about 50% of the genetically abnormal embryos will still look beautiful on their 5th day of life.

The pattern of development that we see with human embryos, regardless of their genetic status, is extremely variable. As you have witnessed first hand, normal embryos often arrest for reasons that we don’t always understand. This is true, regardless of whether the embryos are growing inside of you or in our lab, and this leads to a very inefficient process of reproduction in human females because she only ovulates one egg per month. We do know that the younger a woman is, the better the chance that the embryo will continue to grow. Embryos are more likely to fail in older women. In very young women, over 50% of embryos will implant in the uterus, but in women over age 40 less than 10% will implant. Although we can’t fully explain this phenomenon, a major contributing factor is egg age. Since women have all the eggs they will ever have when they are born, a 40-year-old woman is trying to get pregnant with a 40-year-old egg. And 40-year-old eggs just don’t perform as well as younger eggs.

Are PGD results consistent from one cycle to the next? The PGD technicians tell me that they get similar results for a patient 2 out of every 3 times.

Any embryo that has not developed in 2 days will not get you pregnant. If an embryo is to be ready for implantation, it must be alive and increasing its cell number every day. We expect a full round of cell division (e.g. from 4 to 8 cells) every 16 hours. Further, an embryo transferred to your uterus on day 4 or day 5, following your PGD analysis, should have enough cells to begin forming a placenta. It sounds like your embryo had arrested (i.e. it was dead).

Human reproduction is a very complex undertaking, and often patients feel like they’re left with more questions than answers after their fertility treatment. Don’t be afraid to ask your questions, no matter how simple or complicated they might be. Chances are, we’ve encountered your situation before.

– Joe Conaghan, PhD, HCLD

Considering prenatal diagnosis once pregnancy is achieved is an important and complex decision. Although there are a wide variety of screening options available, prenatal diagnosis is the most accurate method for detecting chromosome abnormalities, such as Down syndrome. Diseases like cystic fibrosis, Tay-Sachs, sickle cell anemia, and thalassemias can be tested for if the parents are known to be carriers for these genetic diseases. Because prenatal diagnostic testing allows genetic experts to test placental cells directly, the results are diagnostic and specific for the fetus.

There are two different prenatal diagnostic tests, chorionic villus sampling (CVS) and amniocentesis. CVS is a procedure in which a small amount of tissue (chorionic villi) is obtained from the developing placenta at approximately 10-13 weeks of pregnancy. The tissue is then evaluated for chromosome abnormalities, and if indicated, specific genetic diseases. The primary advantage to CVS is that this test can be performed much earlier in pregnancy than amniocentesis. However, CVS does not detect neural tube defects (spina bifida, meningomyelocele or anencephaly). Therefore, patients who opt to pursue CVS undergo an AFP blood test and a high-resolution ultrasound later in pregnancy to screen for these defects. Also, approximately one percent of all CVS results will show a mixture of normal and abnormal chromosomes, which is called mosaicism. The majority of the fetuses in these pregnancies are normal, however additional testing, including amniocentesis, may be indicated.

CVS can be performed one of two ways depending on the location of the placenta within the uterus. The transcervical method is performed by inserting a thin catheter, guided by ultrasound, through the vagina and cervix to reach the chorionic villi. The transabdominal method is similar to amniocentesis. Using ultrasound, a thin needle is inserted through the mother’s abdominal wall to obtain a small amount of tissue. In either case, this placental tissue is then sent for analysis.

Amniocentesis is typically performed between 16-20 weeks of pregnancy. Under ultrasound guidance, a thin needle is inserted through the mother’s abdominal wall into the amniotic fluid surrounding the fetus. A small amount of fluid is then taken and analyzed for chromosome abnormalities, neural tube defects, and if indicated, specified genetic diseases. The main benefit to amniocentesis is that although it is performed later in pregnancy, it is possible to test for genetic disorders, including chromosome abnormalities and specific genetic diseases, AND neural tube defects, such as spina bifida, all at once.

Whether patients choose CVS or amniocentesis, it is possible to obtain the same information with either procedure. However for patients who choose CVS, it is necessary to do a follow up blood test and detailed ultrasound in the second trimester to rule out neural tube defects. It should be noted that the results from this blood test and ultrasound are not as conclusive on neural tube defects as the results from an amniocentesis. Because both procedures are considered invasive, meaning that it is necessary to enter the womb with either a needle or a catheter in order to obtain cells, there is a small risk of miscarriage due to the procedures. The risk for either CVS or amniocentesis is approximately 1/200. Diagnostic results from either procedure take about ten days to be completed.

Regardless of whether you are considering CVS or amniocentesis, genetic counseling is an important step in your overall decision-making process and in assessing your risk factors for genetic disorders. Genetic counselors are available to discuss in further detail the benefits, limitations, and risks for prenatal diagnostic testing in order for you to make the best decision for you and your family.

– Kendall Glynn, MS, CGC, Certified Genetic Counselor, California Pacific Medical Center

In graph A (pregnant) DNA fragmentation index is nice and low at 7.5%. You can see clearly that there are very few sperm (7.5%) with moderate or high fragmentation and that most of the sperm are bunched tightly together with very little fragmentation. These healthy sperm were able to establish and maintain a pregnancy.

In graph B (not pregnant), the sperm DNA is much more unstable and there is a fairly even spread of low, moderate and high fragmentation. The DNA fragmentation index is 65% and these sperm were unable to establish a viable pregnancy.

Intracytoplasmic sperm injection (ICSI), a procedure where a single sperm is injected into an egg, went into widespread use in the US in the early 1990′s. With it came the view that as long as a man had any sperm, he could father a child. In many ways ICSI was a remarkable procedure, allowing thousands of infertile males to have children. And ICSI worked even when the sperm didn’t swim well, had poor morphology or were surgically recovered from the epididymis or testicle. It appeared as though there was no physical obstacle to fertilization as long as a live sperm was available for injection.

Now, with over 10 years experience with this procedure, and regardless of sperm or egg quality, we understand that on average 70-80% of all eggs will fertilize following ICSI. If we physically place the sperm inside the egg, fertilization happens most of the time. However, fertilization is not a very reliable measure of sperm quality, or even egg quality, and the rate at which your eggs fertilize has little bearing on whether or not your embryos will implant after transfer. Eggs recovered from women aged 40 and older, where we know that egg quality is poor, will fertilize at the same rate as younger eggs. Similarly, sperm with poor morphology will fertilize eggs at the same rate as sperm with normal morphology.

After fertilization, if embryo quality is poor, or if embryos fail to implant after transfer, we tend to implicate the eggs as the likely source of the problem. It is very hard to pin the blame on the sperm and we usually have very little evidence that would implicate the male partner in the failure. After all, much time and effort was needed to get the eggs, the egg is mostly responsible for preimplantation development, and the developing embryo was placed safely in the uterus. The tiny sperm brought only the male’s genetic material or DNA, and we saw that that was safely inside the egg at fertilization.

Even when we start to worry about the DNA, eggs are much better known for genetic problems than sperm. Down syndrome is the classic example, as it is well known that the incidence increases with increasing maternal age. Genetic problems in children due to paternal age are less well known and in fact less than 10% of Down Syndrome cases arise as a result of a genetic error in the sperm.

In trying to visualize what DNA looks like, you have to think of a ladder. DNA is a double strand that is held together by the rungs, and the ladder is twisted and coiled. In sperm or eggs the DNA is organized on 23 distinct structures called chromosomes. Each chromosome is simply a very long twisted and coiled ladder.

When we count chromosomes in sperm and eggs, sperm have the right number about 90% of the time and for eggs this varies according to maternal age. For women over age 40, we would expect at least 50% of their eggs to have an incorrect number of chromosomes. These abnormalities don’t appear to stop eggs from fertilizing, but the majority of the resulting embryos either won’t implant or will miscarry early in pregnancy.

Because we know that sperm don’t carry a lot of chromosomal abnormalities, we have to dig deeper to find problems that may cause infertility. The sperm chromatin structure assay (SCSA) is a test developed to look at the integrity of the DNA. Basically it looks at the structure of the ladder and determines if the strands are coming apart due to broken rungs. The more severe the DNA fragmentation is, the less likely that the sperm can establish a viable pregnancy.

To have the test performed, we ship a frozen semen sample to Donald Evenson, PhD, in Brookings, South Dakota www.scsadiagnostics.com. There the sperm are assessed and any sample with less than 15% DNA fragmentation is considered normal. Levels of fragmentation up to 30% may cause reduced fertility, and men with greater than 30% fragmentation are considered to have significantly reduced potential to father a child.

Environmental stresses such as smoking, exposure to other chemicals or toxins, or any other chemical or physical stresses that the sperm may be subjected to may cause or contribute to high levels of sperm DNA fragmentation. In the testes it takes over 70 days to make each sperm, so the potential for exposure to stress is high. Consequently, it’s important for men to look after their health in the months leading up to their attempts to conceive. As always it’s good to eat well, exercise, avoid illnesses, hot tubs and exposure to toxins and take your vitamins. We particularly recommend vitamins C and E, beta-carotene and anti-oxidants for sperm health. We don’t routinely recommend the SCSA for our male patients since sperm fragmentation is likely to affect a very small number of men. The significance of a high fragmentation index is still under debate as there are reports in scientific literature of pregnancy successes despite a bad test result. Further, it is unclear what the prognosis is for men that succeed in reducing their fragmentation score by taking their vitamins and living healthier lives. An alternative solution for men with high fragmentation is to use donor sperm, however most couples choose to use their own sperm despite high fragmentation.

You may have heard about Preimplantation Genetic Screening as a technique provided in the IVF laboratory, and may have wondered if this technology is one you should consider incorporating in your IVF cycle. When considering various technologies in your IVF cycle, it is always important to clearly define what information you wish to gather with this technology, and also understand the pitfalls of the technology.

We have two methods of screening embryos. The first is called Preimplantation Genetic Diagnosis, for couples that have a known and defined genetic disease (e.g. Cystic fibrosis, Huntington’s disease, thalassemia), or are carriers of a single chromosome abnormality (chromosomal translocation). In this case we screen the embryo(s) for that particular genetic disorder, and transfer appropriate embryos. For this type of genetic screening, the aim is to conceive a healthy, unaffected child.

The other type of genetic screening is called Preimplantation Genetic Screening, where we screen the embryos for abnormalities in chromosome number. We all have 23 pairs of chromosomes. Embryos that have extra or missing chromosome(s) (aneuploid embryos) are much more likely to not implant, or to produce a miscarriage. The incidence of implantation failure, or of miscarriage, depends on which chromosome(s) are missing or duplicated. We therefore can screen an embryo with a “five or nine chromosome panel.” At PFC we utilize the nine chromosome panel. We look at the nine chromosomes that have been identified as most commonly being associated with implantation failures or miscarriages to see if that particular embryo has the correct number of those nine chromosomes. If so, this embryo is deemed “normal”, and can be transferred back to the uterus.

So who might consider PGS? Patients who have had a number of failed IVF cycles (documented failed implantations), those with a poor response to ovarian stimulation or those with poor embryo development (poor responders), those with recurrent miscarriages (>2 first-trimester miscarriages), those with a prior aneuploid pregnancy, those who are at least 35 years old are all candidates for PGS. The chances of improved pregnancy rates with PGS are dependent on the indication for PGS.

When we started doing PGS for various indications, we expected a dramatic improvement in implantation rates, and therefore pregnancy rates, as we were transferring pre-selected embryos. As it turns out, we have not necessarily seen those expected improvements in all patient groups. Patients who are younger than 35 yeas of age have a better chance at improved implantation and pregnancy rates using PGS. Improvements can still be obtained for older patients, if the 9 chromosome probe set is used (some centers use a 5 chromosome panel). Studies now indicate that patients who have at least 6 fertilized eggs to screen will also have a better prognosis than those with 5 or fewer. For those patients who have five or fewer fertilized eggs in their IVF cycle, we may actually recommend not proceeding with the PGS. In this case less manipulation of embryos may provide the patient with the best overall chance at pregnancy. Patients who have had less than 3 failed IVF cycles may have greater benefit from PGS than those with > 3 failed cycles. Patients with a prior aneuploid pregnancy or with recurrent pregnancy losses can also expect an improvement.

For patients who have had repetitive IVF cycle failures, or repetitive pregnancy losses, a PGS cycle may be diagnostic (explain if those failures/losses are from a high number of abnormal embryos), and in that sense may provide important information that explains those fertility failures. With those answers, the patient can then decide about pursuing similar treatment cycles, or choosing other options (using a donor egg, pursuing adoption, or choosing to live child-free). Studies indicate that results from one PGS cycle are indeed predictive of probable results in subsequent PGS cycles. In other words, if we have a cycle with a higher than expected percentage of abnormal embryos, we have to anticipate that we will probably have a similar result in subsequent PGS cycles.

There are many proposed reasons to explain why we are not achieving a higher implantation/ pregnancy rate in PGS cycles. There clearly is added stress placed on the embryo(s) when one cell is biopsied out, and when the embryo is kept in culture for an extra day or two while waiting for the results of the genetic testing. We currently can only test for 9 chromosomes, and it is possible that there may be undiagnosed abnormalities on one of the untested chromosome pairs. There is also a small possibility that an embryo we deem “normal” may actually not be normal (false negative result). It also may be that simply looking at chromosomes is not the final answer. Most likely the integrity and health of the cytoplasmic structures, and other important structures of the egg are also critical in the ability of the embryo to develop into a viable and healthy pregnancy.

Who Benefits Most?

• Patients with < 3 failed cycles, and > 5 fertilized eggs
• Patients 35 year and older (if using a 9 chromosome panel)
• Patients with a history of recurrent pregnancy losses
• Patients with a previous aneuploid pregnancy
• Patients using PGS as a Diagnostic Tool for:
  - Repeated IVF failure
  - Non-obstructive Azospermia

So, while PGS is a wonderful tool that can be incorporated into the various techniques of your IVF cycle, you need to be aware of the strengths and limitations of PGS testing. Your physician can help guide you in terms of the appropriate use of PGS and whether you may benefit from incorporating PGS in your IVF cycle.

A recent development in the laboratory at PFC is the acquisition of a laser for use in key procedures. The laser will be used to assist in the processes of Assisted Hatching (AH), Intracytoplasmic Sperm Injection (ICSI), and Pre-implantation Genetic Diagnosis/Screening (PGD/PGS).

All of these procedures require us to make a small opening in the outside shell of the egg called the Zona Pellucida (zona). Prior to laser technology this opening was made with an Acidified Solution, which would slowly dissolve away part of the zona until a small opening was achieved. Now with the laser, a beam of light creates a precise opening in the zona.

Laser use for PGD: The red “pilot light” marks target for the laser. The white circle marks a “safe zone”. The laser is usually fired 3 times for assisted hatching and 5 times for PGD embryo biopsy.

The zona pellucida is a non-living, but important part of the egg. It specifically allows only 1 sperm through to fertilize the egg, and then immediately hardens, preventing other sperm from getting in. After fertilization, the egg divides into 2 cells, and then these divide again into 4 cells. As the embryo continues through these rounds of cell division, the zona keeps all the cells together, since it encloses the embryo. After 5 or 6 days, the embryo has enough cells to begin forming a placenta and the embryo hatches from the zona and attempts to implant in the uterine lining.

Assisted hatching (AH) is a procedure that has been around for about 15 years and it is something that is often performed in the laboratory just prior to an embryo transfer procedure. It is a simple and precautionary procedure where we create a small hole in the zona just before transferring embryos to the uterus. Since the zona is not a living part of the embryo, making a hole does no harm, and in fact facilitates the embryo in hatching from the zona once it’s in the uterus. A normal embryo should be able to hatch all by itself, but in some patients we perform this procedure just to make sure a problem doesn’t arise when the embryo tries to escape from its shell. For AH, the laser will allow us to refine the procedure considerably. Firstly, we will be able to make a hole of an exact size, and secondly, the procedure will be performed more quickly and we will therefore further reduce the amount of time that an embryo is being handled. Traditionally, AH takes about 5 minutes per embryo, but with the laser this time will be reduced to less than a minute. For the process of embryo biopsy for PGD/PGS, an extremely precise opening is made in the zona to facilitate the removal of one cell. Again, the laser will speed the procedure up considerably and reduce the time that we’re working on each embryo.

By now you might be wondering if there are any harmful effects of using laser light on embryos. According to several studies and expert opinions, laser-assisted hatching is superior to chemical-assisted hatching as seen by improved development of “hatched” embryos to the blastocyst stage (the stage at which an embryo will implant in the lining of the uterus). Furthermore, laser-assisted biopsy of cells from embryos for PGD analysis does not appear to have a detrimental effect on the continued development of the embryos versus embryos not undergoing any biopsy procedures. This indicates that using a laser to do the biopsy procedure appears to be safe.

Current lasers have several built-in safety features. The laser system is equipped with a second non-laser beam of light, similar to a penlight, which allows the embryologist to observe where an opening of the zona would be created prior to firing the laser. Also, the temperature that the embryo is exposed to is controlled by the use of Isotherm rings. Isotherm rings help the embryologist prevent potential harmful thermal effects on cells adjacent to the zona due to heat from the laser beam. The rings indicate both the drill hole size and the safety region based on temperature. With this interactive feature, the user can predetermine the hole size and eliminate practically all risk of impacting cells within the embryo.

PFC’s new laser system has been tested for both accuracy and precision. In addition, the lab staff is undergoing training with Laser professionals on its use and maintenance. They will have unlimited practice time, ensuring the highest level of safety and technique when it comes time to use it on human embryos.

– Jean M. Popwell, PhD TS (AB, PFC Lab Embryologist)

We are the parents of a little boy with a rare, life-threatening, enzymatic disorder. He inherited this condition through genetic mutations passed along to him by us. Caused by a recessive genetic defect, neither of us is affected in anyway as we are simply “carriers” of this disease. Once we were determined to be carriers, however, we learned that should we conceive another child naturally, there is a 25-percent chance that we will have another affected child.

It had always been our plan to have more than one child. However, as we began to discuss the possibility of having a second baby, we both realized that given the physical, emotional and financial costs of being affected by this disorder, we were not comfortable with consciously bringing another child into the world without doing everything we possibly could do to avoid this for any other child.

Embryo Biopsy

After two years of extensive pre-conception counseling, we decided in-vitro fertilization (IVF) with pre-implantation genetic diagnosis (PGD) through Pacific Fertility Center would give us the best possible chance of giving birth to an unaffected child.

A medical technique whereby embryos can be screened for specific genetic defects prior to transfer to the womb, PGD has been performed for over 10 years and has proven to be a most effective method of diagnosing embryos for known genetic mutations. To-date there have been over 2500 PGDs performed around the world resulting in over 1600 children born without the disease for which they were screened. The error rate for PGD is less than two-percent; therefore, PGD would reduce our chance of having an affected child from 25% to less than 2%.

A little over a year ago we began our IVF with PGD Embryo Biopsy cycle. On Day 3 after retrieval, when our embryos were eight-cells or so in size, a single cell was biopsied from each embryo. These cells then were sent to a lab where the single cell from each embryo was tested for the genetic defect in question. We then transferred two embryos pre-determined to be unaffected by the disorder. In October of last year, we welcomed to the world our miraculous bundle of joy, an – unaffected – little boy.

– Name withheld upon request