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Doctor insights on: Getting Tested As A Carrier For Trisomy 18

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Dr. Jeffrey Stevens
36 doctors shared insights

Edwards Syndrome (Definition)

Edwards Syndrome happens with a frequency 1 in 6000 live births, and is the 2nd most common chromosomal syndrome, where there is an extra copy or part of an extra 18th chromosome. The classic physical findings include prominent occiput, clenched hands, and usually significant structural heart defects. The life span is short with usually severe mental retardation, ...Read more


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How do I know if I am a carrier of trisomy 18?

How do I know if I am a carrier of trisomy 18?

Chromosome study: Most trisomy 18's arise as a new error on meiosis during the formation of a womans egg.It is not "carried" like a sickle trait. There is a rare possibility that infants with trisomy 18 picked up the material from a parent with a balanced switch between 2 chromosomes.The babies study would show the translocation not t18, parents would need to be studied in such a case. ...Read more

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What does it mean if I tested positive for trisomy 18? Should I be worried?

What does it mean if I tested positive for trisomy 18? Should I be worried?

Confusing question: Are you saying you have T18, or your pregnancy is positive for T18. The first response would not be possible. The second is worrisome. Those with any trisomy have birth defects, many of which are life threatening.Few with T18 live past a year of age. ...Read more

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Tested positive for trisomy 18 and i'm really scared. Is there any cure for this?

Sad news, sorry : Trisomy 18 is bad news by anyone's measure. The extra chromosome 18 is usually in every cell of the body. This distorts the formation of organs and body systems & provides severe limitations on function and lifespan. There is no cure. Some pregnancies end spontaneously, only 10% of newborns survive their first year. Rx is focused on maintaining comfort for their short lives. ...Read more

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My doc said my baby tested positive for trisomy 18 but that its unlikely for him to have that because everything is going normaly should I b worried?

Going Normally ???: If you had the test that determined you carry a trisomy you must fall into a group where it was more likely than others. Many trisomies will not make it through pregnancy, but the 13, 18 & 21 all can have a wonderful pregnancy but deliver a baby with major defects that threaten life from the point of delivery. Seek genetic counselling now & prepare for hard times. ...Read more

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How to deal with trisomy 18?

How to deal with trisomy 18?

Keep them comfortabl: These patients are supported with comfort measures as much as possible. Fluids, nutrition, oxygen, etc.As a universally fatal disorder, management focuses on comfort rather than things that would prolong the act of dying. ...Read more

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What're the causes of trisomy 18?

Error in formation: During the formation of the egg or sperm, the chromosome(c) pairs split with one of each going to the egg or sperm. At conception, the egg & sperm each bring 1 of each (c) & the embryo starts with a pair of each.If there is an error & the 18pair doesn't split but donates a pair of 18's to the egg, then it picks up a 3rd from the sperm. Age/toxins/radiation etc all may play a role in (c) errors. ...Read more

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What is edwards syndrome (trisomy 18) like?

What is edwards syndrome (trisomy 18) like?

Extra chromosome: In trisomy 18 the patient has an extra chromosome 18. This genetic disorder frequently causes heart and kidney defects. They may have a small head and jaw and usually have severe developmental delay. Here is a link http://www.Trisomy18.Org/site/pageserver?Pagename=whatist18_whatis. ...Read more

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How do you treat edwards syndrome (trisomy 18)?

Keep them comfortabl: These patients are supported with comfort measures as much as possible. Fluids, nutrition, oxygen, etc.As a universally fatal disorder, management focuses on comfort rather than things that would prolong the act of dying. ...Read more

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What is edwards syndrome (trisomy 18)? What causes it?

Extra chromosome: In trisomy 18 the patient has an extra chromosome 18. This genetic disorder frequently causes heart and kidney defects. They may have a small head and jaw and usually have severe developmental delay. Here is a link http://www.Trisomy18.Org/site/pageserver?Pagename=whatist18_whatis. ...Read more

Trisomy (Definition)

Ordinary chromosomal traits require a pair of chromosomes to determine the traits. Occasionally, as a mistake in cellular division, there is a tripling of one of the chromosomes. When these occur, they usually cause unpleasant, and sometimes deadly conditions in the inheritor of these traits (e.g. Down's). Many we do not know about as they are ...Read more