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PGD testing

LyvGLyvG
in Infertility

I hope this is not a dumb question....

I wanted to know when others choose to move forward with PGD testing is it because you are aware of a genetic disorder that you or your spouse may carry. 

The reason I ask is because I do not know of any genetic disorders that we carry or that run in our families, although I was thinking that I would be aware if myself or my husband were carriers of something is this not true?

Is there anyone who opted for the PGD screening and found out they were carriers but was not aware of this because they did not have symptoms or other conditions.

For example a person who is a carrier for CF or Fragile X (or any other genetic disorder) do you know that you are a carrier?

I feel like the information I am finding is conflicting and not giving me accurate information.

01/07-09 off BCP NTNP 07/09 - ectopic right side removed 08/11 HSG my left tube is all clear- Blood work all normal 12/11 SA everything is normal 04/12 1st round of Clomid 100 mg ovulating from right side= BFP (left tube picked up right side?) Beta 96 Beta 2 126 Beta 3 150 04/17/12 Betas dropped 112 miscarried 5w3d 05/27/12 2nd round of Clomid-6 follies R- 18,12,12 L-15, 12,12 -60ml- HCG+IUI =BFN 06/27/12 3rd round of Clomid-4+follies R-18 L, 28, 23- 139ml- HCG+IUI= BFN 07/26/12 4th round of Clomid-R side only -20-24-25-27 = BFN 08/25/12 5th round of Clomid-L-26 139ml +HCG+ IUI = BFN 09/22/12 6th round of Clomid-L-18-19 R-13-18-23? natural = BFN 10/24/12 7th round of Clomid-L-21-23 HCG +natural = BFN 12/21/12 starting BC moving on to IVF 1/7/13 Baseline and blood work, sono,Lupron, Bravelle and Menopur 2/11/13 ER 8retrieved 5mature/ICSI 3 fertilized 2/14/13 3dt 2-10 cell/1 frostie Beta#1 249 Beta#2 511 BabyFetus Ticker
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Re: PGD testing

  • J&D2007J&D2007 member

    Excuse my limited knowledge, but I will try to advise. First, PGD and PGS are two separate tests. PGD is done when there is a confirmed genetic disorder they will be testing the embies for (I believe that usually will be picked up by doing a karyotyping of you and DH and a CF test as well, or if there is a genetic disorder that you know of that runs in your/his family). PGS is a screening test done without any known disorders that will screen for basic genetic anomalies such as trisomies, wrong number of chromosomes, wrong pairings, etc..

    So, to start, we both had karyotyping of our own genes done. Thankfully, no problems there. We then chose to do PGS just to test the embies for any errors when the egg and sperm were being made and combined (which can happen even if neither of you have a genetic disorder).

    Make sense? Or more confused now? 

    Me: 37, DH: 38: ttc 7 years, dx: unknown
    10/11: after 2 years, saw a RE, FSH 5.4
    11/11: BFP! (surprise after thyroid & normal hsg),
    12/11: missed m/c after 7 week u/s, 1/12: D&C
    6/12 IUI#1-IUI #3: clomid = BFP!, C/P
    IVF #1(10/12) FSH 5.4, AFC: 16 long Lupron, 5R/5M/4F, all 4 made it to 5dt, 1 blast/1-8 cell transferred=BFN
    IVF #2(12/12)AFC 21, MD lupron, 4R/4M/3F, 5dt of 1 blast and 2-8cell. BFN.
    IVF#3(4/13) Natural start antagon protocol, 12R,11F. one PGS normal at day 6 transfer. BFN.
    IVF#4 (11/13) C.CRM (ODW.U normal 8/13 Still no Diagnosis) EPP/antagonist. ER 13R/7M/6F. Only 1 made it to freeze. Abnormal. Looking into options of DE, Fresh vs frozen.
    10/14 new local RE to look into what's next. CD3 FSH 4.7, AMH 0.9. Met with DE agencies and exploring options for feb/march 2015.
    Surprise natural bfp (4 days before donor is signed). Beta #1 at 9dpo: 51.8, 2nd beta: 195 (25 hours doubling) @11dpo. 3rd beta (12/15): 516 (35 hrs doubling) 4th beta(12/17): 895 (58 hours doubling) 5th beta(12/19): 2120. U/S at 5w0d(12/22): one gestational sac with yolk sac. U/S #2 (6w0d)12/29. One little bean measuring 6w0d with HR 124. 3rd u/s(1/4)7w0d: baby measuring 7w2d. HR 134. 3/30: A/S at MFM went great except for low lying placenta. Verifi results are normal! Team Blue! Please send any positive thoughts our way! EDD:8/24/2015
    Baby Will born 8/18. He's perfect.
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  • kflynn81kflynn81 member

    We haven't done PGD but before we started IVF last summer my RE's office does a complete work up of blood tests for common genetic disorders, ie. CF, Tay Sachs, etc.....so in that respect we knew we didn't have anything they drew for.

    Me: 33, Endocrine issues & FVL       DH: 32, Nothing 
    NTNP 2009-2012         TTC since 2012:
    • Clomid, 2 IUI cycles, and 5 IVF cycles = BFN
    • FET #1   August 2013 = BFP!     EDD 5/11/14
    • Jack dx at 19w1d with Dandy Walker on 12/16/13
    • Severe Pre-e /HELLP set in Jack born sleeping at 20w1d on 12/23/13
    • FET #2 --July 2014  BFP!  ---  EDD  4/5/15

    Jack has handpicked his sibling up there :)

    My blog about IF and loss ... Kate's IF Blog

            Lilypie Angel and Memorial tickers 

                                                      

                                                                              Lilypie Pregnancy tickers


                  Anniversary





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  • BrideJackie11BrideJackie11 member
    I had the genetic testing (blood test) and found out I have extra copies for Fragile X.  I had never heard this before.  My parents hadn't either.  The number of repeats can go up with each generation. I have no symptoms or signs.  We found out after the first round of IVF.  We are likely going to do PGD for child number two.  It involves making a probe and requires cheeks swabs of myself and my parents, $$ and 3 months to make.

    <Image and video hosting by TinyPic
    Married June 2011 Dx: anovulatory due to prolactinoma (1.5cmx 1.5cm in 2006)
    April 2012: MRI- questionable cyst 8mg by 12mm in pituitary ; referred to RE by Ob-gyn after amenorrhea x 4+ months, provera ineffective, low estrogen level
    cycle 1: May 2012, clomid 50mg; cycle cancelled, thin lining, no response
    cycle 2: June 2012, femara 5mg; cycle cancelled, no response
    cycle 3: July 2012, femara 7.5mg; cycle cancelled (largest folli on Cd12 & cd 16: 11, lining 4)
    Repeat MRI July 25,2012- Cyst unchanged, likely old infarction.
    Aug. 8: met with RE, move to injectables if HSG and SA normal
    Aug. 23: HSG all clear; DH- perfect
    Switched to a new RE in early Sept. IVF here we come
    Genetic testing reveals: Fragile X- Intermediate risk/grey zone.
    IVF#1: ER 11/30: 14 retrieved, 10 mature, 7 fertilized. E2 prior to trigger 5200. Decision made to freeze 6 embryos and transfer later due to OHSS.
    IVF#1.2/FET #1: estrogen injects start 1/18, FET delayed to try to thicken lining. lining 5.4mm. FET- 2/18- transferred one 3AA expanded blast. BFP 5dp5dt. Beta #1- 2/27 9dp5dt- 102.27 beta #2 3/1: 147 :(, beta #3 3/4: 268 told to stop meds and let nature take its course. requested 4th beta (3/6); Beta hell for 2 months.

    FET # 2: endometrial scratch 5/6, added estrace vaginally and ASA to delestrogen and PIO. June 10- transferred one 4AA hatched embryo, BFP 4dp6dt, Beta 1 (9dp6dt) 187, Beta 2 (11dp6dt): 412; Beta 3 (15dp6dt ): 4452. U/S #1- one beautiful embryo with a heartbeat of 133 at 7 weeks.  8 weeks: heartbeat 156. EDD 2/26/2014: born 2-3-14 induced due to Pre-E and HELLP at 36w5d.

    12/1: met with RE to discuss trying for #2


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  • LyvGLyvG

    Basically we could be carrying a genetic disorder and not know it.

     This does help, thank you for your responses!

    01/07-09 off BCP NTNP 07/09 - ectopic right side removed 08/11 HSG my left tube is all clear- Blood work all normal 12/11 SA everything is normal 04/12 1st round of Clomid 100 mg ovulating from right side= BFP (left tube picked up right side?) Beta 96 Beta 2 126 Beta 3 150 04/17/12 Betas dropped 112 miscarried 5w3d 05/27/12 2nd round of Clomid-6 follies R- 18,12,12 L-15, 12,12 -60ml- HCG+IUI =BFN 06/27/12 3rd round of Clomid-4+follies R-18 L, 28, 23- 139ml- HCG+IUI= BFN 07/26/12 4th round of Clomid-R side only -20-24-25-27 = BFN 08/25/12 5th round of Clomid-L-26 139ml +HCG+ IUI = BFN 09/22/12 6th round of Clomid-L-18-19 R-13-18-23? natural = BFN 10/24/12 7th round of Clomid-L-21-23 HCG +natural = BFN 12/21/12 starting BC moving on to IVF 1/7/13 Baseline and blood work, sono,Lupron, Bravelle and Menopur 2/11/13 ER 8retrieved 5mature/ICSI 3 fertilized 2/14/13 3dt 2-10 cell/1 frostie Beta#1 249 Beta#2 511 BabyFetus Ticker
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  • Twinkie0612Twinkie0612 member

    Lurking from 3T...

    Many people that are a carrier of a recessive disorder like CF or Fragile X have no idea they are a carrier.  I found out yesterday morning that I am a carrier for CF, even though I have no known family history of the disease.  The only reason I found out now is that my first RE's office offered screening through a lab for only $20, so I said WTH I know I don't have family history, but it's only $20 so I'll do it. It took me by surprise when they called and told me that my screening came back positive and that I was a carrier for CF.  Your odds of being a carrier for CF are about 1 in 30 or approximately 3%, although it depends on your ethnicity.

    Many people can be carriers and not know it.  Generally the genetic screening for CF is only done when you are pregnant or if you have a family history of the disease, and even then you have to consent to the screening. I know many pregnant women refuse to have the screening because they don't want to spend their pregnancy worrying about the possibility that their baby might have a genetic disease.

    We are currently in the process of switching REs and waiting for DH's screening to come back. If his test were to come back showing that he is a carrier of CF (which more than likely he is not), we would move straight on to IVF wth PGD.  If both of us are carriers of CF, we would have a 25% chance of having a child with CF.  PGD would allow us to make sure we only implant healthy embryos. 

    I've done a lot of reading over the last 24 hours. :)

    imageimageimageimageimage

     

    image

    TTC #1 since August 2011

    My Blog

    September 2012: Start IF testing

    DH (32): SA is ok, slightly low morph, normal SCSA  Me (32): Slightly low progesterone, hostile CM, carrier for CF, Moderately high NKC, High TNFa, heterozyogous mutated Factor XIII, and +APA

    October 2012-May 2014: 4 failed IUIs, 3 failed IVFs, and 1 failed FETw/donor embryos

    November 2014: IVF w/ICSI #4 Agonist/Antagonist with EPP and Prednisone, Baby Aspirin, Lovenox, and IVIG for immune issues.  Converted to freeze all due to lining issues.  2 blasts frozen on day 6!

    January 2015: FET #2 Cancelled due to lining issues

    April 2015: FET #2.1


    PAIF/SAIF Welcome!

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  • LyvGLyvG

    I have done some reading as well and most of the information I am finding is conflicting somehow. 

    I am getting pricing information tomorrow, I hope mine is only $20!  

    I am sorry you had to hear about your screening results, IF is stressful as it is without having to deal with with things like this. 

     Good luck with your new RE and with DH's screening! Thoughts and prayers for you and DH!

    01/07-09 off BCP NTNP 07/09 - ectopic right side removed 08/11 HSG my left tube is all clear- Blood work all normal 12/11 SA everything is normal 04/12 1st round of Clomid 100 mg ovulating from right side= BFP (left tube picked up right side?) Beta 96 Beta 2 126 Beta 3 150 04/17/12 Betas dropped 112 miscarried 5w3d 05/27/12 2nd round of Clomid-6 follies R- 18,12,12 L-15, 12,12 -60ml- HCG+IUI =BFN 06/27/12 3rd round of Clomid-4+follies R-18 L, 28, 23- 139ml- HCG+IUI= BFN 07/26/12 4th round of Clomid-R side only -20-24-25-27 = BFN 08/25/12 5th round of Clomid-L-26 139ml +HCG+ IUI = BFN 09/22/12 6th round of Clomid-L-18-19 R-13-18-23? natural = BFN 10/24/12 7th round of Clomid-L-21-23 HCG +natural = BFN 12/21/12 starting BC moving on to IVF 1/7/13 Baseline and blood work, sono,Lupron, Bravelle and Menopur 2/11/13 ER 8retrieved 5mature/ICSI 3 fertilized 2/14/13 3dt 2-10 cell/1 frostie Beta#1 249 Beta#2 511 BabyFetus Ticker
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