Genetic problems with sperm
3 Replies
Pheanny - January 8

My husband was diagnosed with a very low sperm count. Our RE recommended ICSI. Egg retrieval was this past Wed. The RE got 9 eggs and 7 of the 9 fertilized. We went in on Sat. for transfer and were told that the embryos hadn't grown since Fri. Basically we were told it was most likely something genetically wrong with the sperm. Today (Sun.) the RE called to tell us there was some growth and that he wanted to wait one more day before giving up completely and discussing other options. We're feeling quite hopeless based on what the doctor told us on Sat. and today (no hope of it getting better the next time around). Are we really out of IVF options? I thought testing could be done on the sperm to determine if there were genetic abnormalities that would prevent an embryo from developing normally.

 

Pheanny - January 9

We found out today that all of the embryos have arrested and none are viable. The doctor doesn't want to try again because he fears as I said in my first email that it's a genetic problem with the sperm so the same thing would happen the next cycle. I asked if we could test the embryos to find out what happened. He said the science is 5 or 10 years away from that. My first question is whether or not the embryos can be tested for genetic defects and my second question is should we really just give up? I know it's difficult to answer the second question without all of our medical info but if you could at least give us your reaction or if you've seen similar situations what other couples have done.

 

Dr Smith - January 13

Sorry for the delay. I was away performing a lab inspection and then got sick with the flu. Yuk.

Although the most likely explanation for the embryos arresting development is a problem with the genetics of the sperm (genetic problems are associated with very low sperm counts), it may not be the only explanation - it takes two to tango. You didn't include your age in your post. I'm sure you are aware that as a woman ages, the percentage of genetically normal eggs decreases. This percentage drops very quickly after age 35. So, depending on your age, the genetic normalacy of the eggs may have contributed to the arrested development of the embryos.

The Sperm Chromatin Structure Assay (SCSA) is a test to evaluate the integrity of the sperm DNA. For more information see www.scsadiagnostics.com. The results of the SCSA cannot be interpreted in absolute terms. In other words, it would give you the answer to your question in an absolute yes or no form. There is no way to get that answer. The SCSA will give you an idea of the probability of success (e.g. term pregnancy) based on the integrity of the sperm DNA. I would suggest having a SCSA test performed.

Secondly, the embryos can be tested for genetic normalacy, but there are strings attached. The procedure is called Pre-implantation Genetic Diagnosis (PGD). PGD provides a rather crude evaluation of the embryo's genetic make up by looking for an abnormal number of chromosomes. It doesn't look at all chromosome pairs and its not 100% accurate and the embryo biopsy procedure itself may interfere with embryonic development. I thing that's why your RE told you that we are 5-10 years away from accurately evaluating the genetic makeup of a developing embryo.

Now for the bottom line. I would suggest having the SCSA test performed to evaluate the sperm DNA integrity. If those results are promising, I would suggest another IVF cycle. Every cycle is different in that the genetic makeup of every embryo created during that cycle is unique. Perseverance often pays off in infertility treatment. Don't give up yet.

 

Pheanny - January 17

Thank you Dr. Smith for your response. We are supposed to go back and meet with our RE so I will ask about SCSA. Your information has been most helpful. We've been feeling quite hopeless and weren't considering trying again based on what the RE told us but maybe there is hope.

As a side note, my age is 34 so I haven't quite reached that 35 mark yet :) But it's not too far off.

 

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