Controversial New Down Syndrome Test

A new non-invasive test for detecting Down syndrome was announced recently and reported in this NY Times article.  This new test by Sequenom tests for Down syndrome by testing a sample of the mother’s blood rather than the more invasive tests of amniocentesis or CVS (chorionic villus sampling) which are the routine tests currently performed to check for chromosomal abnormalities, both of which carry risk of miscarriage.

According to a recent study published by the journal Genetics in Medicine, this new test was 98.6% accurate in picking up Down Syndrome cases, with a less than .02% risk of a false positive.  However, in the cases where Down Syndrome is detected, further invasive procedures that test all chromosomes are often recommended for additional confirmation.

Because the test does not pose a risk to the fetus and because it can be used as early as 10 weeks of pregnancy (earlier than both other current tests) experts believe it may result in fewer of the more invasive procedures being performed.  The drawback is that the test is not able to detect other chromosomal abnormalities, including a few rare forms of Down Syndrome that do not have three copies of chromosome 21.

The controversy (and potential medical ethics question) that arises is whether tests such as these will lead to more pregnancy terminations when Down Syndrome is detected, which would lead to diminished support and services for those currently living with this condition.

Two other companies have announced plans to release similar tests in 2012, and with the technologies that are being utilized for genetic analysis in these tests, we can expect future tests that may make it possible to prenatally diagnose abnormalities that do not involve extra chromosomes.

Read more at:http://www.nytimes.com/2011/10/18/business/sequenom-test-for-down-syndrome-raises-hopes-and-questions.html

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US Clinic Donor Egg IVF Success Rates

Fertility Success Rates recently published their list of the top US clinics for Live Birth rates with Fresh Donor Eggs.  They are reporting that this data is based on the 2009 Society For Assisted Reproductive Technology (aka SART) IVF Success Rates data (note: not all reproductive clinics report to SART).

The top two clinics were no surprise since they have been on the top of most DE lists for several years.  However, a few other clinics who rounded out the top 10 were not who I expected, and a few that I expected to be there did not make the list.

Of course, this data is from 2009 cycles, so we know that the current statistics may be very different, and it is in the best interest of the patient to check with clinics for their most recent statistics.   When comparing recent statistics, I personally think that clinical pregnancies are a good indicator for recent comparisons before the live birth rate is available.  After all, the reproductive doctor gets you pregnant, but really has very little control over what happens after a clinical pregnancy is confirmed and you are no longer under their care.

And so without further ado, here is the SART 2009 IVF Success Rates for Fresh Donor Egg cycles at clinics in the US – listed with Live Birth Rates, and number of cycles:

1. San Diego Fertility Center – 85.1% live birth rate per transfer, 67 cycles
2. Oregon Reproductive Medicine – 82.2% live birth rate per transfer, 90 cycles
3. Houston IVF – 80.5% live birth rate per transfer, 41 cycles
4. Utah Center for Reproductive Medicine – 79.2% live birth rate per transfer, 24 cycles
5. Advanced Fertility Center of Chicago – 74% live birth rate per transfer, 50 cycles
6. Pacific NW Fertility and IVF Specialists – 73.1% live birth rate per transfer, 93 cycles
7. Reproductive Specialty Medical Center (Newport Beach, CA) – 73.1% live birth rate per transfer, 26 cycles
8. Center of Reproductive Medicine (Webster, TX) – 72.7% live birth rate per transfer, 33 cycles
9. Colorado Ctr. for Reproductive Medicine (Lone Tree, CO) – 70.6% live birth rate per transfer, 204 cycles
10. Center for Assisted Reproduction (Bedford, TX) – 70% live birth rate per transfer, 30 cycles

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Male Biological Clocks

Biological clocks – they aren’t just for women anymore.  A recent article referencing a male factor infertility study showed that there is a decline in male fertility after age 41, and it points to an even sharper decline after age 45.  It isn’t the same decline that we often see with women’s eggs, but certainly another factor to consider in the infertility big picture.  Isn’t it interesting that it took a donor egg study (that allowed them to eliminate the female partner’s eggs as a factor) to highlight this male fertility decline?

I have long been surprised and slightly irritated that so much focus is put on a woman’s eggs as the likely culprit when fertility issues arise. Often the only testing done for the male partner related to sperm quality is a semen analysis to measure volume, motility and morphology – even if the male partner is over 45 – 50 years old.   Even sperm that appears to be normal in a routine semen analysis may have extensive DNA fragmentation.  It has been reported that 40 – 50% of infertility cases have male factors as at least a contributing cause (although not necessarily the only cause), yet little is done to scrutinize potential male factors.

While I am certain that statistically speaking the likelihood of the eggs being the issue is high if the woman is over 40, but why not also test the male partner as well (beyond simple semen analysis) to see if DNA fragmentation may be a factor?   The SCSA test (Sperm Chromatin Structure Assay) is relatively inexpensive, and can at least provide some information to factor into the decision-making process.  A simplistic view of this is that a semen analysis looks at the outside of the sperm, whereas the SCSA does a better job of assessing the inside of the sperm and how DNA integrity may impact embryos. Inciid.org (The InterNational Council on Infertility Informatino Dissemination, Inc.) provides a very good article about SCSA testing that describes how it works and answers commonly asked questions.

While some doctors say the test is not always a 100% accurate determination of fertility, it does give some indication as to whether a little focus should be put in the male partner’s lap (ha!) too.  Generally, there is not a procedure that doctors can do to improve the results if they are bad.  Many experts will recommend specific vitamins (particularly antioxidants) and lifestyle changes (reducing stress, improving diet, minimizing opportunities for increased testicular temperature) that the male partner can implement.  These changes usually need to be in place for at least 3 months prior to providing the “swimmers” for a cycle to improve the odds of success.

Also, the results of this test may also trigger recommendations for the use of ICSI or PICSI to aid in selecting the best sperm for fertilization.  And in some cases, couples may instead use the test results to decide to use donor sperm in addition to donor eggs – or even consider frozen donor embryos.   But absent these test results (which is often the case) couples may not realize that sperm may be contributing to continued infertility (even with donor eggs).

I have seen cases where women are on their 4th or 5th IVF cycle before the doctor recognizes some signs that sperm may contributing to the lack of success.  Here are some things that may be an indicator that further sperm testing should be discussed with your doctor:

• sperm does not survive freezing and thawing well
• semen analysis shows high levels of abnormal sperm
• male partner is over 45 years old
• higher than normal embryo demise between day 3 and 5 in the IVF laboratory (the sperm has a lot of responsibility for growth during those days)
• recurring miscarriages

I think often it isn’t until eggs and other female factors have been eliminated that the potential sperm issues finally get attention.  But why wait until the second or third very expensive unsuccessful cycle to explore something that is so easy, non-invasive and inexpensive to check early?

While the SCSA and other sperm testing is not some magic solution, it is most certainly worth discussing with your doctor to see if it may be a valuable tool in assessing your own fertility issues and treatment plans.

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