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Genetic Testing


Forum: October 2013 Playroom

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  #1  
March 14th, 2013, 04:55 PM
Rosiegirl7's Avatar Mega Super Mommy
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This is my first baby, I am 11 weeks today (yay!). I have had two appointments so far, both have been great-one ultrasound, one I got to hear the heartbeat. After the appointment I was told about all my options for genetic testing. I was just curious what everyone has done in the past (mom's with other children), and what you would recommend? I don't want to risk a miscarriage, I'm 27 and my boyfriend and I have no history for genetic disorders in both of our familes. Also, my insurance is decent I think it covers 90% of genetic testing.

I know anything can happen, and some of the tests can help ease the mind- but are all of them worth it?
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  #2  
March 14th, 2013, 04:58 PM
~*Nicole*~'s Avatar Nicole
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I've never done any genetic testing in the past and have had 4 healthy babies. It's up to you but at your age and with your history, I wouldn't think it's necessary
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  #3  
March 14th, 2013, 05:03 PM
Wanta.number2's Avatar Hi, I'm Tiffani!
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I have an awesome OB, and she told me with no medical history and my age ( we are the same age, btw) its really not necessary....some of these tests are in the thousands of dollars and usually insurance will not cover them unless you have had family history. Usually genetic testing is required for those with family or personal histories with genetic disorders, or are age 35 or older.

Also, i know some ladies have experienced a lot of false positives, especially with down syndrome testing. I just dont think its worth it, simply for the amount of stress it could cause you throughout your pregnancy.
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  #4  
March 14th, 2013, 06:08 PM
Wren's Avatar Mega Super Mommy
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I did it last time and I will again. This time I am 35 so it is more recommended. I had some options, and I am opting for finding out later in the pregnancy which means a lower false positive and follow-up with amnio instead of CVS. It means that terminating would be more complicated, but given the low risk of anything being found it seems like a good tradeoff.
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  #5  
March 14th, 2013, 06:09 PM
YoginiMomma's Avatar Veteran
Join Date: Feb 2013
Posts: 210
Would you be willing to abort if you found out that you tested positive for something?

Keep your thoughts positive --- you're going to have a perfectly normal healthy baby!

My fiance's brother has a son with autism- he's scarily autistic and to the point where it looks like it's painful for him to make eye contact, and he gets violent with his parents (he's only 6). At first I was worried that it might be passed on, but now I really don't care. There have been some correlational studies with autism being passed down genetically- but more importantly is that there also needs to be an environmental trigger to exacerbate the autism-- I believe it's vaccinations. Some people also attribute unhealthy maternal diet including artificial colors/flavors, lack of oxygen at birth/birth trauma (my nephew had the cord around his neck 2x and then was vacuumed out and didn't breathe for awhile before he was resuscitated). So knowing that, and making the choices I'm making with my pregnancy, I'm confident I will have a healthy normal baby-- and we're not doing any testing.
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  #6  
March 14th, 2013, 08:08 PM
*Lana*'s Avatar Platinum Supermommy
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I recently had the Counsyl Test done--detects if you're a carrier of 100+ disorders (had it before I knew I was pregnant). There are a few other blood tests they can do. One is drawn in the first trimester and again later on and the two results are compared against each other to assess the risk. There is another one done around the end of the first trimester/beginning of the second trimester.

Deciding to do these sort of screenings depends on the person and how they handle things. If I had a test come back abnormal or showed I had a higher risk, I would want to know, but my DH wouldn't be able to handle the what if's. For me, I will agree to any non-invasive test (i.e. blood draw)--I didn't tell DH about the Counsyl test until the results came back normal. My SIL had an abnormal test. Although it caused stress while they waited for the specialist appointment, the test was correct, the baby had surgery before he was born and he is able to walk--he would have been in wheelchair of he waited to have surgery until after he was born.
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  #7  
March 14th, 2013, 11:24 PM
ILoveStorm2011's Avatar Mack :)
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It's my first baby and Dh and I are super young and have no history but we're still getting the blood test at 16 weeks? That's the only one my doctor told us about.
With him being gone for the actual birth we want to be prepared if anything can happen.
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  #8  
March 14th, 2013, 11:56 PM
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This will be my 3rd and I have not done any genetic testing for any of them. The big question is, "could I abort?" The answer is "no," so there is no point. I just couldn't do it.
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  #9  
March 15th, 2013, 04:59 AM
sweety_pie's Avatar Platinum Supermommy
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I never had any done with my other 2 and opted out again this time.
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  #10  
March 15th, 2013, 06:28 AM
Lemon's Avatar Mega Super Mommy
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No we are not.
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  #11  
March 15th, 2013, 06:38 AM
2Corinthians10:4's Avatar Platinum Supermommy
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We will not do any genetic testing outside of the measurements that are done during the 18 week u/s.
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  #12  
March 15th, 2013, 07:59 AM
mamarazzi40's Avatar Veteran
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We're having a CVS done on 4/2.
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  #13  
March 15th, 2013, 10:55 AM
Spyctre's Avatar Arwen
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I think the question should be would you abort if you found out there was something wrong?

I wish they had a test for Autism. We wouldn't abort, but we would seriously consider giving the child up for adoption. I have tendencies, my daughter has a moderate case. She makes eye contact, doesn't communicate but talks all day. It gets hard. I can honestly tell you she was Autistic from birth.

She was so absolutely perfect. That's a story I often hear. Autistic children are such wonderful babies, and then it CHANGES. lol But she was odd looking back. She laughed a total of one time her first year. She had 20 words, two sentences, and was potty trained by one. She even LOOKED Autistic, and Autism has a face like Downs children. Faces are formed in the first trimester of pregnancy so it leads greatly to it being genetic. She regressed around 14-15 months.

I won't be getting testing because we wouldn't terminate. So it doesn't matter to us.
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  #14  
March 15th, 2013, 12:15 PM
Rosiegirl7's Avatar Mega Super Mommy
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Thank you all for your responses and experienced. To answer your question, no I wouldn't abort. I had the talk with my boyfriend and I was actually surprised at his response. He said he already feels a connection to this baby, and it is ours no matter what. We will provide it with the best life we can. I almost teared up I was so happy to hear that-and on top of that I had my own answer as well. So I think i will pass on the genetic testing.

Praying we all have happy babies no matter what!

Quote:
Originally Posted by Spyctre View Post
I think the question should be would you abort if you found out there was something wrong?

I wish they had a test for Autism. We wouldn't abort, but we would seriously consider giving the child up for adoption. I have tendencies, my daughter has a moderate case. She makes eye contact, doesn't communicate but talks all day. It gets hard. I can honestly tell you she was Autistic from birth.

She was so absolutely perfect. That's a story I often hear. Autistic children are such wonderful babies, and then it CHANGES. lol But she was odd looking back. She laughed a total of one time her first year. She had 20 words, two sentences, and was potty trained by one. She even LOOKED Autistic, and Autism has a face like Downs children. Faces are formed in the first trimester of pregnancy so it leads greatly to it being genetic. She regressed around 14-15 months.

I won't be getting testing because we wouldn't terminate. So it doesn't matter to us.

Do they know what causes Autism? In an earlier post someone mentioned vaccines and I've heard that one before..but like you said Autistic children make some wonderful babies- and intelligent! I knew a couple kids in high school that were autistic and they were geniuses. Like you said, either way I wouldn't terminate either. Thanks for sharing your story.
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  #15  
March 15th, 2013, 12:20 PM
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I had the genetic u/s thing down last time and will get it again this time. I think they are doing some blood tests that day too.

Its not a question of abortion to me. It's about being prepared and having the medical staff prepared on the day of delivery. A friend in her late 30's did not have it done and gave birth to a Down syndrome baby who almost died. She needed 7 surgeries the first 2 years of her life.
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  #16  
March 15th, 2013, 04:37 PM
Spyctre's Avatar Arwen
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Quote:
Originally Posted by Rosiegirl7 View Post
Do they know what causes Autism? In an earlier post someone mentioned vaccines and I've heard that one before..but like you said Autistic children make some wonderful babies- and intelligent! I knew a couple kids in high school that were autistic and they were geniuses. Like you said, either way I wouldn't terminate either. Thanks for sharing your story.

lol I can talk about this all day because I've been living with it my entire life, but I'll just hit some key things. Anyone is free to PM me about it if they want to talk more. Don't want to hijack this thread any more than necessary.

There have been numerous studies disproving vaccinations are to blame. The man that made the original study between the vaccinations and Autism was put in jail for it. His article was retracted a short time after it was published, but the damage was already done. Now there are diseases coming back. Recently there was a child in the news diagnosed with polio. I haven't seen that since the 80's, and that was one person in our city.

I have heard so many theories. The latest and most insulting for me was from one of the midwives running The Farm, the natural childbirth place. She states that epidurals cause it, or that hospital births in general do. So again, it's the fault of the mother. She claimed that hospital births were to blame by using the lack of Autism in the Amish community as proof.

My grandfather had Autism. He was born at home, naturally. He had four children. The first two normal, the second two with tendencies. My dad has the tendencies/mild autism. He was born at home. NATURALLY! He had three children, one normal, two like me. My brother is a little worse. My autistic aunt had one, he has mild Autism. By and by, she was a hospital birth, but no epidurals. The two normal aunts had normal children and Autistic grandchildren. My child has Autism, my sister's middle child is...something. We'll leave it at that for now. My Autistic aunt has no grandchildren with it. Her son decided not to reproduce.

If you Google "Autism face," there is a nifty article about how they have their own look. I used to take care of Autistic kids so I know that look well. When my daughter was 1 month or so, my DH took a picture of her sleeping. I instantly hated it. I told him, "She looks Autistic. She looks just like Josh! Don't print this out." Besides some eye drops and a Vitamin K injection, she had absolutely no vaccinations at that point. Here it is.



I don't know if anyone here can see it, but there's something about the size and shape of her chin, the spacing of her eyes. It's so freaking clear here. This should have been the very first red flag. Actually, the second. The fact she was born with a head over 15" big should have been the first. But she was very strange even from birth. Just the way she behaved, how different it was from neurotypical children.


What I think a lot of people also forget is that our country was a prison colony. Why ship to Australia when America is right there? So many of those people had these problems. Autism, ADHD... Depression and anxiety are hereditary, my husband inherited OCD. We wonder why America has so much of this. It's just in us. I hope one day they can find a way to just give people shots that eliminate that gene from our eggs or sperm, something. Maybe find a way to give babies brain therapy to reverse the abnormalities.

The only other interesting thing I have heard, a hypothesis still, is that Autism seems to also be linked to the father's age. My grandfather's children got more Autistic the more he had. My dad's children got more Autistic the more he had. Might just be a coincidence. Most of the people I know with Autistic children have an older child with it followed by one or two neurotypical children.
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  #17  
March 15th, 2013, 04:52 PM
soul_donut's Avatar Melissa
Join Date: Sep 2012
Location: Florida
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Arwen your story is really interesting.. I read some articles recently that tried to debunk that it's just the female's age that effects pregnancy - men's sperm quality starts to decrease at about age 35 also. Of course it's small percentages, but it is what it is.

We are getting the testing done. I can't say whether I'd abort or not, but I'm definitely pro-choice. I'm very attached to the baby, but for a decision like that I would use both my head and my heart. I haven't given it much thought now because I don't think that is positive energy for either of us, but if faced with that decision, I would spend a lot of time considering. My DH is on the same page.
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  #18  
March 15th, 2013, 05:02 PM
Rosiegirl7's Avatar Mega Super Mommy
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My personal trainer had a son with Autism and so did her sister. Turns out they both grew up living close to a power plant or something that emmitted a lot of radiation, or it was in their drinking water or something I don't remember. She is convinced that is what caused both of their children to have it, as there was no history in her family.

How is your daughter now?

I wish they can pinpoint what does it. I found myself to become very paranoid since I've gotten pregnant-second guessing everything I do. I question using the microwave, pumping gas, drinking a cup of coffee a day, eating sweets. I think about the vaccines and the delivery room, and the epidural. Heck not knowing causes a lot of worrying!
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  #19  
March 15th, 2013, 05:12 PM
Spyctre's Avatar Arwen
Join Date: Aug 2009
Location: Freaking Louisiana
Posts: 7,750
I think a lot of the mild cases or tendencies are undiagnosed. I have no official diagnosis, just a whole lot of experts telling me, "Are you aware you have some tendencies, mam?" People are so used to quirkiness, eccentricities.

Alice is never going to live on her own. She is now potty trained if she's naked, but is confused about potties when she has pants on. She babbles all day without communicative intent. She's not an Autistic Savant. She's nothing like Forest Gump. I seriously doubt she'll ever develop some kind Alpha power.

I guess she is normal in some ways. Doesn't listen, climbs too much, wants to play outside, likes candy.
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  #20  
March 16th, 2013, 09:19 PM
Effervescence's Avatar Platinum Supermommy
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Posts: 6,791
We did all of the tests recommended by doctors for my son. None of them told us that he had a genetic disorder. Some red flags came up on the quad, for spina bifida, which is interesting to me because when he was born he did in fact have a severe dimple at the base of his spinal cord. and he has had many ultrasounds on said dimple to make sure everything is closed and okay. Everything is okay, but spina bifida is one of the symptoms of his genetic deletion, so it makes me wonder how close he was to having it but in the end things found a way to develop properly? All I know is that none of those tests really told us what we had needed to know about our son, it took us until he was two years old before we found what was truly plaguing him.

I do not know if we will do any this time. We will certainly not be getting the normally recommended tests, I found those to be relatively useless. If we do CVS (which we need to decide soon) then it will be only to make sure the hospital staff are prepared, and also to monitor the systems in utero that could be affected. The baby has a 50/50 chance of inheriting the genetic syndrome we are concerned about, as discussed in my other thread. I don't think we will end up getting the testing done because the risks aren't worth it to me. I might request a level 2 ultrasound to make sure the organs are developing properly, and the hospital knows of our chances so they will probably have a team ready during the birth, to handle any "just in cases" But, we already know our chances; it would be different if we had no knowledge whatsoever.
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