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#26858 - 09/05/10 04:15 PM ichthyosis seen on ultrasound screening?
lmstaloney Offline
New member

Registered: 09/05/10
Posts: 3
This is a repost from another board, so forgive me if youre reading it twice. Were any Moms or Dads able to see any forms of ichthyosis on their prenatal ultrasound screenings?

Were having some questions about my pregnancy, and were unsure if you could determine anything from an ultrasound. Thank you in advance for your help!

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#26859 - 09/05/10 07:24 PM Re: ichthyosis seen on ultrasound screening? [Re: lmstaloney]
BritMum Offline
Member

Registered: 07/25/08
Posts: 226
Loc: UK
We asked this very same question with our second pregnancy given our eldest has CIE and were told unfortunately there was no way of detecting anything visual per se on ultrasound! However I'm sure I've read posts on here that say the trained eye can perhaps detect something in amniotic fluid that could indicate potential abnormalities (kind of like debris from the skin that has come off the unborn baby). Hopefully someone else will be able to tell you more about this??

J x

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#26864 - 09/07/10 03:34 AM Re: ichthyosis seen on ultrasound screening? [Re: BritMum]
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
No. We tried with both pregnancies. Harlequin is visible on ultrasound.

Confetti, as we have, is a type of EHK. We had a suggestion of ichthyosis on a very high resolution ultrasound done at a specialist's office. We could see a lot of particulate matter in the amniotic flud and we attempted to measure the scalp thickness, but it was inconclusive. We also tried to look at the cracking pattern on the feet, but that, too, was not visible on our boys. Ultrasounds were done around 32-33 weeks.

If you are looking for collodion, it is too thin to be visible and any stiffness wouldn't appear until the baby is out of the amniotic fluid.

If you are looking for XLI, the sure-fire test is the steroid sulfatase test.

Keep in mind that the skin doesn't develop into layers until about 30 weeks gestation. You can't see ANYTHING on any child of any type at the normal 20 week scan.
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

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#26871 - 09/09/10 04:24 PM Re: ichthyosis seen on ultrasound screening? [Re: Hearsay]
MamaH2 Offline
Member

Registered: 11/27/08
Posts: 77
Loc: Virginia
We didn't see anything but we weren't looking for it.

I would also be wary of extremely high resolution ultrasounds some studies have shown that the noise from the process is comparable to the noise of a subway at full speed. Plus they're not regulated.

I'm a particularly "crunchy" person so I feel like if it's not medically necessary and it won't change my mind to continue with the pregnancy there's no point in doing it. That goes for ultrasounds, amnios, and blood tests.


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#27706 - 06/08/11 06:30 PM Re: ichthyosis seen on ultrasound screening? [Re: lmstaloney]
~ Leonards Mom~ Offline
Member

Registered: 02/08/09
Posts: 6
Loc: us
during my pregnancy with my son during one of the routine blood test that they subject us mothers to I was told that something came back strange and that I needed to see a geneticist they thought that my son would be born with trisomey 13 a genetic disorder in which the child usually is born missing heart chambers which is fatal in some cases limbs ect.. they did some other genetic tests special ultrasounds that looked at heart chambers and reassurd me that this was not the case.he would be as per say totally normal. He was "normal" a very energetic baby but he had respitory problems at 3 months needing oxygen on and off for about six months or so. long story short he has itch-v and though they could not see it on the ultrasound I am sure this is what the genetic scare during my pregnancy was all about. He is seven now and is a wonderful lively child with very dry skin!

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#27758 - 06/22/11 05:10 PM Re: ichthyosis seen on ultrasound screening? [Re: ~ Leonards Mom~]
Laurensmom Offline
Member

Registered: 12/29/04
Posts: 212
Loc: north billerica, massachusetts...
My daugther has Harlequin and it was not visable on any of my multiple ultrasounds, including those after 30 weeks. We instead presented with abnormal findings on blood tests and other prenatal screenings and were counseled to prepare for Down Syndrome, which she does not have. I did not have 3D ultrasound at the time.

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#27760 - 06/23/11 02:14 AM Re: ichthyosis seen on ultrasound screening? [Re: ~ Leonards Mom~]
kekonen Offline
Member

Registered: 12/14/09
Posts: 58
Originally Posted By: ~ Leonards Mom~
during my pregnancy with my son during one of the routine blood test that they subject us mothers to I was told that something came back strange and that I needed to see a geneticist they thought that my son would be born with trisomey 13 a genetic disorder in which the child usually is born missing heart chambers which is fatal in some cases limbs ect.. they did some other genetic tests special ultrasounds that looked at heart chambers and reassurd me that this was not the case.he would be as per say totally normal. He was "normal" a very energetic baby but he had respitory problems at 3 months needing oxygen on and off for about six months or so. long story short he has itch-v and though they could not see it on the ultrasound I am sure this is what the genetic scare during my pregnancy was all about. He is seven now and is a wonderful lively child with very dry skin!


I had something similar with the CVS blood test done around 12 weeks with my unaffected daughter. The results came back with a chance of her having Trisomy 18. We had a level II ultrasound and the tech didn't find any of the markers for Trisomy 18. I'm wondering now if she is a carrier since my youngest has LI. We haven't done any genetic testing yet, but plan to test both girls for their own knowledge.
_________________________
Karen
Mom to Annalie born 7/17/09 (Mild Lamellar) & Hadley born 3/20/06

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#27766 - 06/23/11 02:28 PM Re: ichthyosis seen on ultrasound screening? [Re: Laurensmom]
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
Originally Posted By: Laurensmom
My daugther has Harlequin and it was not visable on any of my multiple ultrasounds, including those after 30 weeks. We instead presented with abnormal findings on blood tests and other prenatal screenings and were counseled to prepare for Down Syndrome, which she does not have. I did not have 3D ultrasound at the time.


That's really interesting. I wonder if it is a situation like ours where the only chance of seeing anything was to do a very high resolution scan by someone that knew what they were looking for. Back before I attempted it, I did some research, and came across several articles where Harlequin was diagnosed in utero, and in fact was the only one they could diagnose before birth prior to knowing any of the ichthyosis genes.

This one was published in 1980: http://www.ncbi.nlm.nih.gov/pubmed/7371219

This one's from 1989: http://www.ncbi.nlm.nih.gov/pubmed/2672741

This one's from 1992 in Israel: http://www.ncbi.nlm.nih.gov/pubmed/1314264

1995: http://www.ncbi.nlm.nih.gov/pubmed/7760469

2002 - 3d ultrasound was first used to diagnose harlequin, but only in a family that was a known carrier: http://www.ncbi.nlm.nih.gov/pubmed/12100425

And the last one that was available when I got pregnant with my second affected child was this one: http://www.ncbi.nlm.nih.gov/pubmed/12862276

There are several other articles in addition to that, but from the ones I went and found, most were done by someone actively looking for Harlequin, such as someone who had already had or lost a baby that was affected.
_________________________
Jennifer
Ichthyosis-en-Confetti Type 2
Husband, Nathan - 10, Elliot - 7, Oliver - 4, all affected.
I also have an unaffected daughter, age 8.


email: jennifer at confettiskin dot com
facebook - find me on "ichthyosis mommy spot" or "friends of ichthyosis"

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