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I'm new here and have a question about genetic testing....

SchnauzerL0verSchnauzerL0ver
in Pregnant after 35

Hello all!  I'm about 7 weeks pregnant and very excited and nervous.  I have a 15yo daugther.  I was married in the military when I was young and had my DD a year later at 20yo. 

Now that I'm 35 and will be 36 when I deliver in December, I am very worried about Downs Syndrome and other genetic problems.  I was raised with a severely mentally handicapped sister (not genetic - allergic reaction to an innoculation in the 70s') and it was such a difficult life for us, so I know first-hand how difficult it is to be in this situation.

We plan to do an amnio for peace of mind.  I feel that I would spend my entire pregnancy worrying about this.

Has anyone done this or plan to do this?  Is there any reason to do a CVS instead (it doesn't check for spina bifada so we planned to just wait til the amnio)?  The only reason I'd like to do the CVS is that its done much earlier.

Thanks for any insight/advice!

BPF - 5/4/2011 Miscarried - 6/6/2011
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Re: I'm new here and have a question about genetic testing....

  • mcwhittakermcwhittaker member

    We did the amnio. Everything tested great and we were able to relax in regard to genetic problems during the rest of the pregnancy.

    I am high risk due to several factors, and my high risk doctor does amnio and CVS tests regularly as well as all the other genetic tests, so we were very comfortable having him perform the amnio for us.

    We got the initial results after 5 days (including gender) and the rest of the results a week later.

    As long as you go to a doctor that performs these types of tests routinely, they are very low risk.

    I actually asked the ultrasound tech at my doctor's office how many babies they've lost due to miscarriage from the tests, and her response was "None, and he does 3 of these a day".

     

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  • jennypasadenajennypasadena member

    My sister is a genetic counselor, so I've definitely been getting her input on this.  If you know (as I do) that if your child will have Downs or one of the serious genetic disorders (Trisomy 13 or 18) that you would terminate the pregnancy, then CVS is really the best way to go.  It can be done at around 10 weeks - much earlier than amnio.  And the answers are definitive - unlike waiting for the NT and the quad screen which just give you adjusted odds for various problems (my sister is NOT a fan of those tests). 

    If potential termination of your pregnancy is something you know you wouldn't do, then waiting for the amnio would be fine.  I thought long and hard about this before I got pregnant, so I know I'm going to ask for the CVS to be done at around 10 weeks. It's a personal decision, though!  

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  • SchnauzerL0verSchnauzerL0ver

    Thanks for your information.  I've heard that CVS is a little riskier, do you know that to be true?  Also if it doesn't check for spinal bifada, is there a way to determine that later without an amnio?

    We haven't fully decided on term of pregnancy if trisomy 13 or 18 or Downs shows, but would really like the reassurance as early as possible.  I'm just wondering what are the stats for spina bifada? 

     

    BPF - 5/4/2011 Miscarried - 6/6/2011
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  • alliapistoralliapistor member

    If there is a possibility that you would choose to abort if the testing was positive for an issue, then I would do the CVS instead of an Amnio.  The CVS can be done between 10 to 13 weeks - so before you've told people and you still have options in terms of terminating.  The Amnio is done much later, people will likely know that you were pregnant and you have fewer options.  With CVS, you can do a simple blood test later to check for spina bifida.

    Our plan was to do the non-invasive NT scan and if it showed high risk to do an immediate CVS.  Thankfully, our NT scan showed low risks and we did not do further testing besides the blood test for spina bifida.

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  • mcwhittakermcwhittaker member
    imagealliapistor:

    If there is a possibility that you would choose to abort if the testing was positive for an issue, then I would do the CVS instead of an Amnio.  The CVS can be done between 10 to 13 weeks - so before you've told people and you still have options in terms of terminating.  The Amnio is done much later, people will likely know that you were pregnant and you have fewer options.  With CVS, you can do a simple blood test later to check for spina bifida.

    Our plan was to do the non-invasive NT scan and if it showed high risk to do an immediate CVS.  Thankfully, our NT scan showed low risks and we did not do further testing besides the blood test for spina bifida.

    The amnio can be done at 15 weeks, so really, it's not that big of a difference :)

    I had my amnio at 15.5 weeks. 

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  • alliapistoralliapistor member
    imageSchnauzerL0ver:

    Thanks for your information.  I've heard that CVS is a little riskier, do you know that to be true?  Also if it doesn't check for spinal bifada, is there a way to determine that later without an amnio?

    We haven't fully decided on term of pregnancy if trisomy 13 or 18 or Downs shows, but would really like the reassurance as early as possible.  I'm just wondering what are the stats for spina bifada? 

     

    The risks that are important are the ones from the particular doctor that will be doing your procedure.  You want someone who has done a lot.  For my doctor, I think the risk was 1 in 250 from CVS and 1 in 450 or 500 from Amnio. 

    One note though - for CVS, they generally count any miscarriages that result following a CVS and some may not be tied to the procedure itself (i.e., there's no way to rule it out so the risk rates tend to be higher just because risk of miscarriage is higher in the first trimester and the risks for people who tend to do CVS are on average higher).

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  • jennypasadenajennypasadena member

    I think CVS and amnio have almost equal risks.  I asked my sister about the spina bifida issue, and here's what she said.

     So, if you get a CVS, they'll still recommend a second-trimester blood test to test for open neural tube defects (ONTD, aka spina bifida), which looks at the levels of a protein called AFP in your blood.  If there is some type of ONTD, then AFP, which is present in spinal fluid, is essentially leaking out of the fetus, and then mom is absorbing some of this into her blood, and this blood test would show elevated AFP.  This blood test, in combination with a good ultrasound, are good tools to screen for ONTD - it would be rare that an ONTD would go undiagnosed with these two tests.

    So, just a blood test and ultrasound.  No need for a CVS AND amnio.

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  • PeppernutPeppernut

    Hi, and congratulations!

    We did amnio with Margaux (after an NT scan) and CVS with this new one.  My thoughts are if you are worried about risks, talk to the person who would be doing the procedure rather than googling statistics.  It depends a lot on the skill and experience of the person behind the needle. 

    We did the CVS this time because the results are earlier.  I think they can check for spina bifida at the anatomy scan around 20 weeks, which was okay with us.

     

    Good luck! 

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  • blessedoncemoreblessedoncemore
    Is it painful? I was very scared to do this because of the risk of miscarriage. But the doctor spoke to me and I was comfortable to go with the amnio. I might be nervous the day I get it done but I rather get it done and have a peace of mind.
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  • PeppernutPeppernut
    I didn't find either the amnio or the CVS painful at all.  It feels a little weird, but no pain.  It's really quick, too.
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  • mcwhittakermcwhittaker member
    Nope, no pain for me. They gave me a quick local which probably wasn't even necessary. They gave me medication for possible uterine cramping afterwards, but I never had any.
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  • SchnauzerL0verSchnauzerL0ver

    Thanks everyone for your input and info.  I called my OB/GYN doc and have asked to have a CVS she said they use only 2 doctors in the area and that they are the best at it and do them very frequently.  I went to a website that checks in PA if they have any complaints or disciplinary actions against them and they didn't.

    I'll be getting a call by tomorrow for my initial appt with this perinatologist.

    I'm scared but feel the relief of knowing earlier is what I want to do.

    Thanks for the info about the spina bifada, we'll blood test for that like you suggested rather than wait it out.

    My instincts are normally VERY accurate and I am not having any bad instincts about this at all. 

     Again thanks and I appreciate everyone not being judgmental as I know this is a fiery issue.

    BPF - 5/4/2011 Miscarried - 6/6/2011
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  • SFAug07SFAug07 member
    I have had two amnios, one for each baby, as I was 38 with DD1 and I am now 40. The amnio was very fast and painless for me and we got the good news of no genetic defects a week after. We also wanted peace of mind, so decided for the amnio.
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