turner syndrom(syndrome)

[zokodent]

My sester has Turner syndrom (syndrome).I have 1 healty boy 5 year old,but my wife was pregnant.I want to know is there any risk for the baby to have some genetic disorder like Turner,and could the ginecologist  diagnoze this disorder with 3D skan in 20 week of pregnansy?Thank you,I prefer fast answer

[eureka254]

Most genetic disorders that are caused by a major chromosomal abnormality, like Turner syndrome, are not diagnosable by using ultrasound (even 3D).  In order to detect a chromosomal abnormality, an amniocentesis can be performed, usually done between 16-18 weeks.  Even though your sister has Turner syndrome, you are at low risk for having a child w/ Turner syndrome (the risk is more increased if the mother is of older age, 35 or older.)

Hope that helps.

[dstnyx]

My daughter has Turner Syndrome, and we've gone through all of the education with the geneticist and endocrinologist.  So let me just correct a couple of things that eureka254 responded to, in case someone else searches and pulls this answer up...

Turner Syndrome cannot be diagnosed through ultrasound (correct), but it is usually found in the Triple-Screen bloodtest that is standardly given to the pregnant woman.  If there is an abnormality in the blood test, then an amniocentesis is recommended for confirmation.

Turner Syndrome IS NOT GENETICALLY PASSED ON!!!  There is absolutely no greater risk because of a family member having it.  As the doctors said to us, "It's a genetic fluke!"  AGE IS NOT A FACTOR (that was incorrect, eurekea), past behaviors (such as drugs or alcohol use) is not a factor...there is NOTHING to pinpoint a cause or prevention.  EVERYONE HAS THE SAME RISK, which is 1 in 2500 girls.

[claire38]

i want to thank u for clearing that up. i had a stillborn due to the complications that turner's gives while she was still in me. the only reason they found out i needed to be tested was cuz the ultrasound showed hygroma and hydrops. and that was at 20 weeks. but it wasn't found in my blood test. as u said age is not a factor i was 22

[eureka254]

claire38:
I'm very to sorry to hear of your loss.  My condolences to you and your husband, and best wishes to you in the future.

dstnyx:  perhaps the information you received from your geneticist and endocrinologist is specific and correct for you and your case, but it's not entirely accurate.

Some cases of Turner's syndrome go undetected prenatally, both by ultrasoud AND by triple screen blood testing (as claire pointed out above, it was NOT found in her blood test).  In fact, triple screen blood testing does NOT assess risk for Turner syndrome.  It is used to assess other genetic abnormalities, specifically Trisomy 21 , Trisomy 18, and open neural tube defects, and actually does not address risk for other chromosomal abnormalities.  

It is correct to say that Turner's syndrome is generally not inherited, but it IS a genetic condition, and although highly unusual, there are cases of "gonadal mosaicism" that (though very rare) COULD cause such a syndrome to be "genetically passed on" or inherited.

Genetic "flukes", or more correctly, chromosomal changes, INCLUDING Turner syndrome) ARE more common in pregnancies for women over the age of 35.  That's not to say that it doesn't happen to younger women, it does, especially since more younger women are having children than older women, but a woman's risk for conceiving a child with extra or missing chromosomes (called "aneuploidy," which includes Turner syndrome) DOES increase with age -- NOT everyone has the same risk:

http://www.expat-at-large.com/thesis/Chapter13.htm

Hope that clarifies things.  Best wishes to all.
~eureka