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#14944 - 01/18/08 04:56 AM QUESTION about CVS Prenatal Testing and screenings
Martika Offline
Member

Registered: 04/15/05
Posts: 78
Loc: Southern California
Hi, this is for the moms and dads with Ichthyosis or a form of it. I have EHK,

Does anyone know if the normal blood screening will indicate that a baby has EHK or something like that if the parent knows it's a possibility?

I'm nearly 6 weeks pregnant, and my OB wants me to have the CVS done, BUT I figure if the normal blood screening for "markers for anomalies" would hint to it, I may want to wait.

And as for CVS, has anyone had complications with it? I wanna be sure it's safe, esp. since this is our first baby.

THANKS,
Cindie
_________________________
Mommy to TJ (EHK, T21, 8/14. VSD/ASD repair 11/4) Wife to WONDERFUL Husband and daddy Carlos, and Baby Mason Born 12/9/09

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#14945 - 01/18/08 08:01 AM Re: QUESTION about CVS Prenatal Testing and screenings
mspowell981 Offline
Member

Registered: 06/08/07
Posts: 32
Loc: jacksonville, fl usa
If you are refering to the triple or quad screen, mine didn't show anything. I know there have been false positives and false negatives too. I think the test shows if you are at greater risk for certain defects. Trisomy 21, i know is covered a lot by that test.

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#14946 - 01/18/08 03:05 PM Re: QUESTION about CVS Prenatal Testing and screenings
immystique Offline
Member

Registered: 03/09/05
Posts: 271
Loc: Grand Junction, CO, USA
From what I know when my two kids were born, there are special tests that can indicate ichthyosis, but they are expensive and not covered by insurance. Regular tests blood tests (i.e. triple screen) only looks for anomalies like leaking spinal fluid, Downs, etc--not ich.

My ob said she wouldn't suggest doing the ich test unless we planned to terminate the pregnancy if the baby had ich. Well, that wasn't an option for us. And we figured if any of our kids WERE born with ich, they'd have a better advantage then I did because 1)We know what it looks like, 2) I know how to take care of it, and 3)the child wouldn't feel as alone as I did since he'd have a parent with the same thing!

CVS has a slightly higher rate of miscarriage than a regular Amnio. It can also cause deformities in the fetus if he/she gets in the way of the test. If your blood screenings come back normal, I would NOT risk doing a CVS or an amnio. It's not worth it.
_________________________
If the grass looks greener on the other side, maybe it's time to start watering your lawn!

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#14947 - 01/18/08 03:20 PM Re: QUESTION about CVS Prenatal Testing and screenings
Hearsay Offline


Member

Registered: 01/16/04
Posts: 1449
Loc: Richmond, VA, USA
You would have to have a gene test done from the amnio fluid. Ichthyosis is not something that is regularly screened for. The risk of miscarriage or birth defects from amnio or CVS are very low - around 1 in 100 or 1 in 200, but whether you do the test really depends on what you will do with the information.

The skin doesn't start forming until around 19 weeks and ichthyosis would not be visible on ultrasound until around 30 weeks. That's how we looked for it. Our doctor did the scan himself at 33 weeks and looked for details that techs don't usually look for - he took a closeup of the scalp and looked for the hair sticking vs waving around. He measured the thickness of the scalp. We tried to look for hyperlineation on the soles of the feet. and thickened skin or skin peeling off under the armpits. With a collodion membrane, harlequin syndrome has been found in utero because the mouth is stuck in an O shape and the limbs are rigid. Our type doesn't have a membrane, so that fact didn't help us.
_________________________
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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#14948 - 01/20/08 06:46 PM Re: QUESTION about CVS Prenatal Testing and screenings
Martika Offline
Member

Registered: 04/15/05
Posts: 78
Loc: Southern California
Thanks to all of you for your responses. I've done some research about the miscarriage rate for amnio and CVS. I've been told that if the place doing CVS is very experienced that the risk is the same for it as amnio. I DO plan on having one of these tests, because I want to know if the baby will have EHK. And not because I want to terminate, but because I'm gonna have to decide on either trying a natural birth and having the baby look stripped if he/she has ehk, or having a c-section with hopefully better results. of course if the baby is normal then I'll try a natural birth. (I HOPE the baby is born normal.. but obviously will accept it if he/she has EHK)

Cindie
_________________________
Mommy to TJ (EHK, T21, 8/14. VSD/ASD repair 11/4) Wife to WONDERFUL Husband and daddy Carlos, and Baby Mason Born 12/9/09

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#14949 - 01/25/08 09:21 PM Re: QUESTION about CVS Prenatal Testing and screenings
jenjen Offline
Member

Registered: 10/05/05
Posts: 31
Loc: jersey city, nj, usa
Hello,

I just want to reply to this question regarding CVS. I am currently pregnant with my third. I have EHK, my eldest daughter (16) has EHK and my youngest (15 months) does NOT have EHK.

I did a CVS at 12 weeks through GeneDX to see if the fetus had it. I will be doing that again this time.

Hope that helps.

Congrats,

Jenny

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#14950 - 01/26/08 12:25 AM Re: QUESTION about CVS Prenatal Testing and screenings
Martika Offline
Member

Registered: 04/15/05
Posts: 78
Loc: Southern California
Thank you jenny, my genetic counsellor said that for their office, CVS has a 1/100 or 1/200 risk of M/C, but Amnio has 1/300.

I'm gonna go w/amnio. Thanks for the congrats. And your answer did help!

Cindie
_________________________
Mommy to TJ (EHK, T21, 8/14. VSD/ASD repair 11/4) Wife to WONDERFUL Husband and daddy Carlos, and Baby Mason Born 12/9/09

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