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Birth defects, should I tell?

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July 26th, 2011, 12:23 PM
Join Date: Jul 2011
Location: WA
Posts: 151
Ok my daughter was born with what they used to call " goldenhaar" syndrome,
Basically she has one working ear, and one smaller closed non working ear, she also has minor spinal issues that don't affect her, and an extra urethra between bladder and kidney , some other small issues as well. I recently found out that my 15 yr old son has a minor form of a cleft palate, again something that no doctors even caught until now.
So my concern is, should I be asking for extra testing for this baby?
The reason why I even ask is that I feel like we have been very lucky with our children, and the birth defects they do have are asymptomatic and don't seem to affect their heLth or well being.
I almost feel like I would be exploiting them for an extra us because they really aren't bad problems they were born with .. I am not that worried about this baby, but my DH is pushing for another us and wants me to use the other kids' as a reason to convince my OB.
I am probably being silly, any opinions would be appreciated..
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July 26th, 2011, 12:26 PM
Mistyx6's Avatar Mommy of 6
Join Date: Apr 2007
Location: CT
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I probably would opt for more testing just to know whats going on and prepare myself if needed.
Thanks for the Beautiful siggy Kristy!

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July 26th, 2011, 12:26 PM
TNTGarner's Avatar Mega Super Mommy
Join Date: May 2011
Posts: 1,275
The way our clinic works is that those things would be found at the 20 week anatomy scan. From there, if they are concerning in utero then they are followed through the rest of the pregnancy via ultrasound or whatever else is needed. My son was diagnosed with hydronephrosis at his 20 week scan and we were followed with extra ultrasounds. I would mention it and see what that scan shows and go from there. I am sure every clinic does it differently but atleast that is a starting point.

Unless " goldenhaar" syndrome is a chromosomal defect (I have no idea what it is)... then what Misty said. Either way, discussing it with your doctor and letting them decide what is best sounds like the best bet.

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July 26th, 2011, 12:43 PM
heatherj101604's Avatar Super Mommy
Join Date: Mar 2010
Location: PA
Posts: 680
I would see if you can go see a genetic counselor.
Married to Matt for 7 years
Mother to Amaya(11), Cameron(9), Jameson(2)
and Dashiell born 12/26/11
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July 26th, 2011, 12:44 PM
BobbityBoo's Avatar Platinum Supermommy
Join Date: Aug 2009
Location: The Left Coast
Posts: 816
I would get further testing (at this point its too late for the quad screen) because maybe you are lucky you kids now have minor issues, what if something more serious happens with this baby. Especially, since this seems to be a recurring issue.

But I agree with the PP posters that the 20 u/s is probably all they are going to do. I bet they won't sign you up for something right this second, like your DH seems to want. I still think its valid to discuss with your doctor.

Thank you Kiliki for my wonderfull siggie!
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July 26th, 2011, 12:47 PM
swade66's Avatar My friends call me HIRB.
Join Date: Jan 2007
Location: Sewickley, PA
Posts: 39,416
I think you should talk to your doctor too.

I know that my doctor would want to (and probably already know) this stuff and would make sure I saw all the extra doctors I needed.

***Don't expect me to lie to you just because you won't like the truth.***
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July 26th, 2011, 12:57 PM
NutMeg76's Avatar Platinum Supermommy
Join Date: Oct 2006
Location: United States
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We had to disclose any type of birth defects or other issues about us, our children and our immediate family members 9brothers, sisters, parents) at our first appointment. From there that triggered a discussion with the genetic couselor during our first pregnancy because my husband has an eye disease that runs in his family. They determined our children were not at risk, so we didn'tneed further testing. I would definetly mention it to the doc and let them decide.

When they persisted in questioning him, he straightened up and said to them, "Let the person among you who is without sin be the first to throw a stone at her." John 8:7
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July 26th, 2011, 01:00 PM
anybodyinthere's Avatar Mega Super Mommy
Join Date: Nov 2009
Posts: 3,307
They asked me about down syndrome, clef palate, spina bifida and cystic fibrosis history at my NT scan/genetic blood test appt. It's too late for those tests, but it's absolutely something you should mention to your dr.

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July 26th, 2011, 01:07 PM
SPinkD's Avatar Platinum Supermommy
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Originally Posted by Mistyx6 View Post
I probably would opt for more testing just to know whats going on and prepare myself if needed.

Thank you RaspberryBeret for my gorgeous siggy!

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July 26th, 2011, 03:43 PM
Join Date: Jul 2011
Location: WA
Posts: 151
Thanks all, I did tell my OB about my other children and the issues.
He didn't seem to think it was worth worrying over, that's kindof what I was basing my laid back opinion on, was his reaction. I was just wondering if I should push the issue or not I think.
Maybe I wasn't clear enough to my OB .
I had a clear nuchal scan with neg results
I would like to know if there's anythig wrong of course, I think I am worried about having more to worry about ..
Thanks guys, I will discuss it in more detail with OB
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