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Question from a Lurker

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DancinBarefoot
06ers Rock!!

Member since 1/07

9534 total posts

Name:
The One My Mother Gave Me ;-)

Question from a Lurker

with the thought that someday I'll be posting here I am always reading this board. Half the time it scares the heck out of me!! Chat Icon Chat Icon

Anyway, y'all always talk about ultrascreens and amnio and other stuff but I can't find the answer to this question (and yea I tried google), the ultrascreen "screens" for downs, and trisomy and "other chromosomal abnormalites" what are the "other chromosomal abnormalities" this test screens for?? To me it seems kinda silly to take a test that screens for two things, so what are all the others???

Posted 5/18/07 1:51 PM
 
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DanaRenee
Fitness Junkie!

Member since 6/06

6470 total posts

Name:
Dana

Re: Question from a Lurker

here are some benefits of the test:

Gives you and your healthcare provider earlier information to assist you in managing your pregnancy.

Detects more birth defects than any second trimester screening.

Helps identify over 90% of Down syndrome, 97% of trisomy 18, 40% of heart defects, and some other birth defects.

Reduces mother’s anxiety and unnecessary testing.

Message edited 5/18/2007 2:03:08 PM.

Posted 5/18/07 2:02 PM
 

DancinBarefoot
06ers Rock!!

Member since 1/07

9534 total posts

Name:
The One My Mother Gave Me ;-)

Re: Question from a Lurker

Posted by DanaRenee

here are some benefits of the test:

Gives you and your healthcare provider earlier information to assist you in managing your pregnancy.

Detects more birth defects than any second trimester screening.

Helps identify over 90% of Down syndrome, 97% of trisomy 18, 40% of heart defects, and some other birth defects.

Reduces mother’s anxiety and unnecessary testing.




I understand all the benefits and the drawback of getting a result that causes worry, the question is what are the "other birth defects" it screens for???????? Your post says trisomy 18, what about trisomy 13???

Posted 5/18/07 2:07 PM
 

DanaRenee
Fitness Junkie!

Member since 6/06

6470 total posts

Name:
Dana

Re: Question from a Lurker

Posted by DancinBarefoot

To me it seems kinda silly to take a test that screens for two things, so what are all the others???



There are hundreds, if not thousands of different chromosome abnormalities and considering it only took me about about 3 mintues to find some more maybe you should do more research!



Cystic Hygroma / Nuchal Thickening
Monosomy X (Turner syndrome) Noonan syndrome
autosomal dominant anomaly
congenital heart disease
trisomy 21
Choroid Plexus Cysts
Fetal Hand
Club Foot
Intracardiac Echogenic Focus
Single Umbilical Artery
Cerebellar Hypoplasia (small cerebellum)

in addition to detecting:
structural malformations(any), short femur or humerus, increased nuchal fold, echogenic bowel, choroid plexus cyst, hypoplastic middle phalanx of the fifth digit, wide space between the first and second toes, two vessel umbilical cord, or short ear length.

Other:
1) Omphalocele (exomphalos: failure of the umbilical ring to close with abdominal contents extruded into the amniotic cavity)
2) Polyhydramnios (excess amniotic fluid)
3)Intrauterine Growth Restriction
4) Many additional structural anomalies such as isolated pericardial effusion, separation of the great toe, shortened ear length, or fetal cholocystomegaly (enlarged gallbladder) have been found to be associated with chromosomal anomalies. When these findings are seen in isolation, it is still controversial whether or not amniocentesis should be offered.

Posted 5/18/07 2:42 PM
 

DancinBarefoot
06ers Rock!!

Member since 1/07

9534 total posts

Name:
The One My Mother Gave Me ;-)

Re: Question from a Lurker

Posted by DanaRenee

Posted by DancinBarefoot

To me it seems kinda silly to take a test that screens for two things, so what are all the others???



There are hundreds, if not thousands of different chromosome abnormalities and considering it only took me about about 3 mintues to find some more maybe you should do more research!





Thank you so much for this list. Could you tell me what you used as a search term? I tried searching ultrascreen & abnormality and didn't have the same success. I only got a description of the ultrascreen with those few things I originally posted.

Posted 5/18/07 2:49 PM
 

Kerie-is-so-very
versatile!

Member since 5/05

13535 total posts

Name:
K

Re: Question from a Lurker

Posted by DancinBarefoot

Posted by DanaRenee

here are some benefits of the test:

Gives you and your healthcare provider earlier information to assist you in managing your pregnancy.

Detects more birth defects than any second trimester screening.

Helps identify over 90% of Down syndrome, 97% of trisomy 18, 40% of heart defects, and some other birth defects.

Reduces mother’s anxiety and unnecessary testing.




I understand all the benefits and the drawback of getting a result that causes worry, the question is what are the "other birth defects" it screens for???????? Your post says trisomy 18, what about trisomy 13???




I'm not sure about trisomy 13. My DH asked the doctor a lot of questions and this is something that the doctor was definitely interested in going over. I just can't remember what he said! The ultrascreen is almost risk free and I felt that it would be a lot more accurate than the AFP test. I refused the AFP test but not the ultrascreen. The AFP is also very safe but I figured that if I have to be stuck with a needle one more time, it should not be for a test that I am so uncomfortable relying on. I also made a difficult decison to have an amnio. That does not make me a murderer. I have to trust the doctor performing it.

Posted 5/18/07 3:00 PM
 

smdl
I love Gary too..on a plate!

Member since 5/06

32461 total posts

Name:
me

Re: Question from a Lurker

Posted by DanaRenee

Posted by DancinBarefoot

To me it seems kinda silly to take a test that screens for two things, so what are all the others???



There are hundreds, if not thousands of different chromosome abnormalities and considering it only took me about about 3 mintues to find some more maybe you should do more research!



Cystic Hygroma / Nuchal Thickening
Monosomy X (Turner syndrome) Noonan syndrome
autosomal dominant anomaly
congenital heart disease
trisomy 21
Choroid Plexus Cysts
Fetal Hand
Club Foot
Intracardiac Echogenic Focus
Single Umbilical Artery
Cerebellar Hypoplasia (small cerebellum)

in addition to detecting:
structural malformations(any), short femur or humerus, increased nuchal fold, echogenic bowel, choroid plexus cyst, hypoplastic middle phalanx of the fifth digit, wide space between the first and second toes, two vessel umbilical cord, or short ear length.

Other:
1) Omphalocele (exomphalos: failure of the umbilical ring to close with abdominal contents extruded into the amniotic cavity)
2) Polyhydramnios (excess amniotic fluid)
3)Intrauterine Growth Restriction
4) Many additional structural anomalies such as isolated pericardial effusion, separation of the great toe, shortened ear length, or fetal cholocystomegaly (enlarged gallbladder) have been found to be associated with chromosomal anomalies. When these findings are seen in isolation, it is still controversial whether or not amniocentesis should be offered.




For amnio, you can add:

Spinal bifida
cleft palate....

Posted 5/18/07 3:00 PM
 

DanaRenee
Fitness Junkie!

Member since 6/06

6470 total posts

Name:
Dana

Re: Question from a Lurker

Posted by DancinBarefoot

Thank you so much for this list. Could you tell me what you used as a search term? I tried searching ultrascreen & abnormality and didn't have the same success. I only got a description of the ultrascreen with those few things I originally posted.



I typed in:
chromosomal abnormalities examples

and found where it talked about ultrasounds

Posted 5/18/07 3:04 PM
 

DancinBarefoot
06ers Rock!!

Member since 1/07

9534 total posts

Name:
The One My Mother Gave Me ;-)

Re: Question from a Lurker

Posted by DanaRenee

Posted by DancinBarefoot

Thank you so much for this list. Could you tell me what you used as a search term? I tried searching ultrascreen & abnormality and didn't have the same success. I only got a description of the ultrascreen with those few things I originally posted.



I typed in:
chromosomal abnormalities examples

and found where it talked about ultrasounds





Thank you!!

Posted 5/18/07 4:46 PM
 

Aga
hello baby Albert

Member since 9/05

7750 total posts

Name:
Aga

Re: Question from a Lurker

you can also try research nuchal translucency screening, maybe that will give you more results..

Posted 5/18/07 4:50 PM
 
 

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