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Genetic Testing

Forum: 2013 Playroom


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  • 1 Post By mirdeemrlvs

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January 23rd, 2013, 12:57 PM
Join Date: May 2008
Location: Raleigh, NC
Posts: 242
So as I mentioned in a previous post, I was not at all happy with my OB for my first appointment on 1/6 and decided to switch when I was told that would be my one and only ultrasound. My appointment with the new OB is on February 1st. However, the appointment is with the OB nurse, not the OB at all.

I'm concerned because for my first appt on 1/6, not a single thing was mentioned about genetic testing. No background history about my family was taken. I talked to my SIL and she mentioned that she had an NT done at 12 weeks to test for Down's, Trisomy 18, and the like. She mentioned that Tay-Sachs is more prominent in our French-Canadian heritage. I had never even heard of this test, or any other genetic testing. I'll be 11 weeks at my next appointment with the OB nurse, so I won't even have the chance to get anything done then because I won't be seeing an actual OB.

Is it common to just not inform moms-to-be about genetic testing? I'm 30, have two cousins with Downs, and apparently have a heritage that has a higher propensity for a genetic disease. As I sit here thinking about this, I'm getting angrier and angrier that nothing was ever mentioned to me so far about testing of any kind, with either OB. I know the chances are slim that there will be a problem, but if I hadn't done some research I wouldn't even know about my increased likelihood or the options that are available.

Did I just pick bad OB's?
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January 23rd, 2013, 01:11 PM
Super Mommy
Join Date: Jul 2010
Posts: 726
With DD they never offered 1st trimester screening with me. The first appointment was with a nurse as well. She asked all of my history. It was after I did the quad screen that levels were high and they recommended a genetic counselor. After that appointment we had the choice to pursue testing. Since I was transferred to high risk the first time I just decided to start there this time. They offered testing right away (which can be done either in the 1st or 2nd trimester, your choice) because of my history.

I hope you get answers soon. I'm sure if you express concern they will go along with your wishes. ((HUGS))

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January 23rd, 2013, 01:20 PM
Jenilope's Avatar Platinum Supermommy
Join Date: Nov 2007
Location: Western Chicago Suburbs
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My OB talks about genetic testing at the 8 week appointment for everyone.

But, they've started a new maternal blood test now, my office is moving away from the nuchal translucency scans because the blood test is more accurate--the NT scan has a high incidence of false positives that lead to amnios that carry a risk of miscarriage. The maternal blood test finds the baby's DNA in your blood and tests it for common genetic disorders. I was offered screening via maternal blood for trisomy 13, 18 and 21 as well as CF. I don't know if they have a TS screening but I imagine they do, if you are concerned about it. The test can also tell you the baby's gender.

My ob said the test can be done any time after 7 weeks but it's better to wait until after 10 to get a better sample. I have not decided whether or not I'm getting the test done, but if you have missed your window for the NT scan to look for trisomy 21 (11-13 weeks) you could request the blood test which will be more accurate and look for more disorders anyway.

But yeah, I do think the office should have had someone call you to discuss genetic screening. Perhaps they just aren't organized enough to have it figured out yet about where you are in the pregnancy and that you're a new patient. But, at 11 weeks for your first visit you should still have time to do the NT scan if you want it.

Also, I had heard that T-S is more common in certain Jewish populations--I didn't know it was a prominent feature in the French Canadian community, too; that's interesting!
Mom to four beautiful girls
Matilda (6), Evelyn (5), Adelaide (3), Cecily (20 months)

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January 23rd, 2013, 01:36 PM
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Join Date: Jul 2008
Location: Richlands NC
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Sapphire you are very close to me! About a 2 hour drive

When I made my appt the scheduling nurse just basically told me any questions I had would be addressed at my appt. I know that When I am talking to the nurse if there is any questions they refer them to the doctor and that the doc is the one who writes the referall to the specilist for any reason. maybe at your appt your nurse does the same? maybe shes just there to do routine stuff and if something arises the doc just steps in.

Robert 17,
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Raymond 5
Alexavier 3
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Korbyn 28 week miracle 5/17/13
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January 23rd, 2013, 02:05 PM
BeachMum's Avatar Mega Super Mommy
Join Date: Jan 2011
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I have never been offered the testing and I have had 4 different obs.
Mom of 2 girls and 3 boys
Missing my 4 angels too precious for this earth: 2/22/04, 12/13/06, 4/22/08, 11/16/12

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January 23rd, 2013, 02:30 PM
DeletedUser12345's Avatar Mega Super Mommy
Join Date: Dec 2011
Location: Seattle
Posts: 2,668
I heard they arent accurate at all and usually just lead to more worry. The first doc I saw pretty much told me he didnt recommend it and mumbled on and didnt say much about it. When I switched to the team of midwives, they offered it in an unbiased way and I preferred that. I still declined genetic testing as it often has way too many false positives. I would rather not worry about my baby in there and keep it close as possible to a natural birth experience with the exception that I cannot wait to know the gender.. I personally wouldn't worry about the extra testing unless you are really worried.. but it could just lead to more worry.
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January 23rd, 2013, 02:37 PM
soccermamatomany's Avatar Mega Super Mommy
Join Date: Jan 2013
Location: Bay Area, CA
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I asked about the CVS at my last appointment and was told that Dr. didn't recommend it, even though I am 36. I will be having bloodwork at 11 weeks and then the NT scan at 12 weeks. If there are indications that we have a high risk for genetic defects, I will go ahead with the amnio or CVS at that point.
Mama to many:
DD: 18yo
Twin DDs: 14 yo
DS: 9yo
Step DD: 15yo
Step DD: 11yo
Rayna-August 18, 2013!
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January 23rd, 2013, 02:52 PM
Anchored's Avatar Platinum Supermommy
Join Date: Jan 2009
Location: Virginia
Posts: 5,741
With my pregnancy with chase, I was never offered one.

With this pregnancy, the Ob did talk about it and give me information and booklets on each of the available tests. She told me it was optional, and no pressure to get it done. She also mentioned that if I got it done at her office, my insurance most likely won't cover it. She said if I did it at the high risk doctor, my insurance WOULD cover it (how weird).
Then the high risk Ob scheduled it without even talking to me about it! lol (I'm okay with that, I wanted it anyway)

Sooo... I think it's just a matter of your Ob's views. Funny thing is I have the same Ob from Chase's pregnancy to this one and once they offered and once they didn't.

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January 23rd, 2013, 04:38 PM
alittlelost's Avatar Platinum Supermommy
Join Date: Jul 2012
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I would bring it up at your next appointment. My midwives are on top of things like this, but if they weren't I'd bring it up to them!
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January 23rd, 2013, 09:03 PM
Mega Super Mommy
Join Date: Oct 2008
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my ob at the last appt recommended the NT scan and offered the blood DNA testing which were both on board with so that will happen on Feb 4th at our next appt.
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January 23rd, 2013, 09:08 PM
mirdeemrlvs's Avatar Mega Super Mommy
Join Date: Feb 2012
Posts: 1,464
personally, I never opt to have genetic/amnio testing done. When I found out the risks of harming my baby were higher than the risk of something being wrong with my baby (due to my age) I said no. I've also heard of so many false positives. There is really nothing that can be done except abort your baby and that is NOT an option for us, so we always opt out.
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Children are a heritage from the Lord,
offspring a reward from him. Psalm 127:3

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January 23rd, 2013, 10:31 PM
mamalamb's Avatar Platinum Supermommy
Join Date: Apr 2006
Posts: 6,079
I have always been offered it and have always done the first trimester bloodwork and NT scan. If something were to be wrong, I like to have all the information possible so that measures could be taken to prepare for whatever challenges baby may have at birth. I do not think I would do an amnio, if it got to that point because I would be too scared and not want to risk it, especially since we would have the baby no matter what. But yes, I have always done the bloodwork/NT scan
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January 23rd, 2013, 10:51 PM
Wildflower's Avatar Mega Super Mommy
Join Date: Dec 2010
Posts: 2,678
I was offered the NT scan and bloodwork with this pregnancy and my last. I enjoy the extra peek and honestly, though it would not change my mind, I want to be prepared for the increased possibility that there may be something "wrong" (I dont like that word because it sounds so neg.) so we can be ready for that as a family. I have a family history of certain chromosone problems and spinal issues, so maybe that has some holding on why it was offered to me both times. But I enjoy it, and I have never personally known someone who had a false positive with the NT scan but it does happen. I just prefer it to more invasive testing (CVS and amnio). I asked for the materni21 but was told I was not "at risk" enough for it.

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