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DNA Genetic Testing


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#1 RedEmber

RedEmber
  • Global 100+
  • 210 posts
  • Gender:Female
  • Location:Calgary
  • Dx:Male Factor
  • My Clinic:Calgary Regional Fertility Program

Posted 21 January 2012 - 04:14 AM

Hi,

My DH has poor concentration, low motility, low morphology, his sperm die quickly and has sperm antibodies. Because of this our RE has ordered a blood test to check for genetic disorders.

The requisition states they are checking for 'Chromosome Analysis / Karyotype'.

Unfortunately, during our last appointment, I was feeling ill, so not on the ball when it comes to asking the right questions. And my DH was so gutted about his SA results that he hardly said anything.

I would like to know:
1. What exactly are they checking for?
2. Do the tests just come back saying there is a genetic problem, or do they state what genetic condition it is?
3. Is this the same as DNA fragmentation testing?
4. What happens if they find anything?
5. If they do find a genetic problem, does this mean we can't do IVF?
6. If they do find a genetic problem can they pre-screen the sperm or the embryos for the genetic problem?

Thank you in advance
ABOUT US
  • Me: 33, RE says all OK, but 2 Naturopaths sees low progesterone in luteal phase.
  • DH: 33, Male Factor - low concentration, motility, morphology and antibodies
HISTORY
  • 19 Sep 2010: Began TTC
  • 9 Nov 2011: Us = 1st appointment with fertility clinic (Dr. O'Keane).
  • 11 Jan 2012: Us = 2nd appointment with fertility clinic. Find out its male factor.
  • 15 Mar 2012: Us = Attend mandatory IVF talk.
IVF#1
  • 19 Mar 2012: Us = Active on wait list
  • 2 May 2012: Us = Got call to begin IVF
  • 16 May 2012: Me = Start Suprefact nasal spray & baby aspirin
  • 30 May 2012: Me = Start Stims: Gonal F = 150 iu, Luveris = 75 iu. Dose later reduced to 125 then 100 iu Gonal F. Stimmed for 9 days. 20 follicles.
  • 10 Jun 2012: Us = Egg retrieval. 18 eggs. Fertilization through ICSI.
  • 11 Jun 2012: Us = Day 1, Embryologist report: Of 18 eggs retrieved, 17 mature, 15 fertilized. Began Prometrium and Estrace.
  • 13 Jun 2012: Us = Day 3, Embryologist report: We've still got 15 embryos. Going for a day 5 transfer.
  • 15 Jun 2012: Us = Day 5, transfer 1 x 3AA blast (perfect), Embryologist report: other 14 not doing well, warned we might not have anything to freeze
  • 16 Jun 2012: Us = Day 6, Embryologist report: 4 frozen. All developmental 4, quality A's and B's
  • 28 Jun 2012: Me = Official pregnancy test = BFP
  • 29 Jun 2012: Me = 1st Beta: 449 (14dp5dt)
  • 1 Jul 2012: Me = 2nd Beta: 1012 (16dp5dt)
  • 16 Jul 2012: Me = Ultrasound, pregnant 7w1d, measured 6w,4d. Heart beat 120bpm.
  • 11 Sep 2012: Me = Doppler, heart beat 150bpm.
  • 10 Oct 2012: Me = Ultrasound, heart beat 136bpm, it's a boy.
  • 4 Mar 2013: Due Date
src="http://tickers.baby-gaga.com/p/dev062pb___.png" alt="pregnant" border="0" />

#2 Leeloo

Leeloo
  • Cyclebase
  • 97 posts
  • Gender:Female
  • Dx:Male Factor

Posted 25 February 2012 - 10:02 AM

Hi RedEmber,

Here is the info I gathered from urologist appointments and online searches. We just got these tests back and they are normal.

These tests are meant to determine if there is a genetic cause to male factor infertility. They don't provide more treatment options but if they come back abnormal, there are some serious decisions to make.

An abnormal karytotype would mean for example that there are 2 X-chromosomes instead of one one some genes (XXY) and there is a risk of passing this problem to offspring. A man may have a very mild expression of this that only affect sperm parameters, but that doesn't mean their children can't have a more serious expression of it if it is transfered. I may be mistaken on this but if your DH'S sperm count is above 1million/ml, you should not worry to much about this one. Usually men with this problem have azoospermia and when they have sperm, it is extremely low.

Chromosome analysis probably means search for Y-chromosome micro-deletion. This means that there are deficits in the Y-chromosome structure. It makes sperm quality decline progressively with time (much faster than it normally would). Men usually go from normal parameters in their teens to azoospermia in their fourties. Since it is bound to the Y chromosome, any male offspring is bound to have the same disorder. however in this case, it will be same and cannot be worst, i.e. sons will have normal lives but also will need medical assistance for procreation, unless they procreate in their teens, and also will pass on the micro-deletion to any male offspring of their own.

So they will tell whether it is OK or which condition it is.

It is not the same as DNA fragmentation; I think DNA fragmentation is another sperm quality indicator like motility or morphology

What happens if they find something? You would then be referred to genetic counselling for assistance in making reproductive decisions taking this into account. I was very surprised when I asked my RE about the possibility of doing a sex-selection in the case of Y micro-deletion. He said: "your husband is living a happy life, why would your sons not?" I answered that going through this is rather unpleasant and I would not wish that for my children, so I would think about doing sex selection to only have girls...He was rather surprised... In any case, I'm sure that you can do sex-selection if you wish, but that (I believe but am not 100% sure) only applies to Y micro-deletion, as the karyotype problems can also be passed on to girls.

It does not mean that you cannot do IVF. If you choose to assume the risks (which seemed to be a reasonnable and frequent decision as per my RE), you can continue IVF process. If not they will offer donor-sperm insemination.

Screening: I know they can do sex selection for y micro-deletion, but I don't know if karyotype problems can be detected with PGD.

I hope this helps!

I just realised this post is 1 month old! Did you get news since then?
  • Lucretia and RedEmber like this
TTC since March 2011
Me 27: All seems OK, however I don't do well with stimulation.
DH 30: low count (moderate) and morphology (severe), normal motility.

Sept.20.11: me: Pelvic ultrasound ok
Nov.16.11: him: 1st SA ok (hospital lab)
Dec.13.11: First meeting at fertility clinic - Referrals for further testing including 2nd SA due to doubts on 1st SA's methodology
Jan.6.12: him: 2nd SA - Low count, motility, morphology (severe)
Jan.6.12: me: Hormone blood tests (AMH, FSH, oestradiol)
Jan.11.12: me: Hysterosonography - clear tubes
Jan.17.12: him: 3rd SA + hormone blood test
Jan.30.12: him: Apt. with urologist; 3rd SA same as 2nd. mild varicocele, normal LH/FSH.
Feb.6.12: him: Apt. with urologist; Normal testosterone. Bacteria found in sperm. Antibiotics course for 2 weeks, will most likely improve sperm parameters but more motility than morphology. Awaiting genetic testing results; if OK will try varicocele surgery.
me: AMH slightly below normal. FSH/oestradiol normal;
We are now on the wait list for n-IVF + ICSI (2-3 months)...
Feb.23.12: him: Genetic tests are OK!!! New SA (4th) to confirm that bacteria is gone. Variococele surgery March 15!
Mar.1.12: me: Day 3 antral follicule count: 24!!! - Very very good AFC vs lowish AMH... I could do stimulated IVF if I wanted to afterall, but
I am told I need to have all my babies as soon as possible and if I wait too long my AFC will drop.
him: antibiotics and vitamins have made a huge improvement in motility; it is now within normal range. Morphology also
improved from 0% to 1%.
Mar.15.12: him: Varicocele surgery
May 2012: natural-IVF + ICSI #1 - Chemical pregnancy
June 2012: natural-IVF + ICSI #2 - No embryo - cycle cancelled
July 2012: Find out surgery did not improve sperm parameters.
Find out AMH is normal and first results were a mistake
September 2012: natural-IVF + ICSI #3 - Abnormal cell division - cycle cancelled
October 2012: Stimulated-IVF #1 - Antagonist -
- 12 retrieved, 3 mature(?!), 2 fertilized, low quality, did not make it to blast - Cycle cancelled
November 2012: natural-IVF + ICSI #4 - Good quality embryo transfered Dec. 6. Beta Dec.19: Negative
March 2013: Stimulated-IVF #2 - Short -
- 7 retrieved, 5 mature, 2 fertized, 1 3pn (not transfered), 1 lovely gr.1 9 cells. Beta April 2: 188, April 4: 642

#3 RedEmber

RedEmber
  • Global 100+
  • 210 posts
  • Gender:Female
  • Location:Calgary
  • Dx:Male Factor
  • My Clinic:Calgary Regional Fertility Program

Posted 25 February 2012 - 11:40 AM

Hi Leeloo,

Thank you for the response. It does make me feel better to hear more about what the results could mean.

We have no news yet, appointment to find out results is March 16.

Thanks
ABOUT US
  • Me: 33, RE says all OK, but 2 Naturopaths sees low progesterone in luteal phase.
  • DH: 33, Male Factor - low concentration, motility, morphology and antibodies
HISTORY
  • 19 Sep 2010: Began TTC
  • 9 Nov 2011: Us = 1st appointment with fertility clinic (Dr. O'Keane).
  • 11 Jan 2012: Us = 2nd appointment with fertility clinic. Find out its male factor.
  • 15 Mar 2012: Us = Attend mandatory IVF talk.
IVF#1
  • 19 Mar 2012: Us = Active on wait list
  • 2 May 2012: Us = Got call to begin IVF
  • 16 May 2012: Me = Start Suprefact nasal spray & baby aspirin
  • 30 May 2012: Me = Start Stims: Gonal F = 150 iu, Luveris = 75 iu. Dose later reduced to 125 then 100 iu Gonal F. Stimmed for 9 days. 20 follicles.
  • 10 Jun 2012: Us = Egg retrieval. 18 eggs. Fertilization through ICSI.
  • 11 Jun 2012: Us = Day 1, Embryologist report: Of 18 eggs retrieved, 17 mature, 15 fertilized. Began Prometrium and Estrace.
  • 13 Jun 2012: Us = Day 3, Embryologist report: We've still got 15 embryos. Going for a day 5 transfer.
  • 15 Jun 2012: Us = Day 5, transfer 1 x 3AA blast (perfect), Embryologist report: other 14 not doing well, warned we might not have anything to freeze
  • 16 Jun 2012: Us = Day 6, Embryologist report: 4 frozen. All developmental 4, quality A's and B's
  • 28 Jun 2012: Me = Official pregnancy test = BFP
  • 29 Jun 2012: Me = 1st Beta: 449 (14dp5dt)
  • 1 Jul 2012: Me = 2nd Beta: 1012 (16dp5dt)
  • 16 Jul 2012: Me = Ultrasound, pregnant 7w1d, measured 6w,4d. Heart beat 120bpm.
  • 11 Sep 2012: Me = Doppler, heart beat 150bpm.
  • 10 Oct 2012: Me = Ultrasound, heart beat 136bpm, it's a boy.
  • 4 Mar 2013: Due Date
src="http://tickers.baby-gaga.com/p/dev062pb___.png" alt="pregnant" border="0" />