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

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When do people get tested as a carrier for trisomy 18?

When do people get tested as a carrier for trisomy 18?

Translocation: If the edwards syndrome infant has translocation (joining of chromosomes) rather than a free-standing extra 18 chromosome (trisomy), then the parent may "carry" this translocation in balanced form without symptoms. Translocation carriers can have a 10-50% risk for future infants with edwards as opposed to the very small risk (<1%) when the child has trisomy 18. ...Read more

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Dr. Linda Callaghan
37 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

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Where can I find more information on trisomy 18 or edwards syndrome?

Trisomy18.org: There is a foundation set up for this syndrome - go to http://www.Trisomy18.Org. ...Read more

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What are the methods of the tests to be done for baby who is suspected to have trisomy 18?

What are the methods of the tests to be done for baby who is suspected to have trisomy 18?

Chromosome study: A simple chromosome study done at a specialized lab will confirm this diagnosis. Your local doc can have this done for you. S/he can also arrange for you to see whoever in your part of the Philippines can best explain the findings. ...Read more

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My sister has trisomy 18. What is the likelihood that if I have children that one of them will have it?

Almost zero: Trisomy 18 (edwards syndrome) is caused by the spontaneous, accidental inclusion of an extra chromosome #18 in the zygote for a total of three. Your sister's trisomy 18 has no effect on your reproductive risk. Your risk to have a trisomy 18 child is the background incidence of 1/6000 live births. ...Read more

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Is it possible for someone with edwards syndrome (trisomy 18) have children in the future if they live long enough?

Maybe: This is complicated. First, in most cases, there is an extra chromosome in all cells so the sperm and eggs will be genetically defective anyways & so can't create an embryo. Rarely, one can have mosaicism in which some cells have trisomy 18 - theoretically, the sex cells could have the normal 23 pairs. However, there's also anatomic problems like undescended testes in males. So the odds are low. ...Read more

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Is there a correlation between trisomy 18 and autism?

Is there a correlation between trisomy 18 and autism?

Not really: Trisomy 18 is a severe syndrome that significantly affects the brain and its development . A child with autistic like behaviors who has trisomy 18, is a trisomy-18 patient, not an autism patient. ...Read more

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What is the life expectancy of a child born with trisomy 18?

Less than a year: This chromaosome defect is incompadible with long term survival.Mosd die within the first few months.A few make it past a year. ...Read more

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Trismoy21 1: 1067 trisomy 18 1: 2674 trisomy 13 1: 8368 does it mean my child has down sydrome?

Trismoy21  1: 1067 trisomy 18 1: 2674 trisomy 13  1: 8368  does it mean my child has down sydrome?

Unclear: The information you list provides no specific information on which to base an answer. How was the data obtained and why? Does it relate to some specific test, a pregnancy, a genetic counseling session ? Questions should provide basic information on the problem and ask a clear question. The public site is not a chat room and none of your prior submissions are linked. Try again if you wish. ...Read more

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Do I have to have an amnio if the ultrasound shows lots of findings of trisomy 18?

Do I have to have an amnio if the ultrasound shows lots of findings of trisomy 18?

Diagnosis vs screen: Most maternal-fetal medicine or OB doctors. Sonographers spend time looking at the heart and other structures for abnormalities that can be associated with chromosomal or other problems. Details they see change with fetal age and position. Because there might be structures they cannot see, ultrasound is considered a screening test. To diagnose trisomy requires amniotic fluid or baby blood studies. ...Read more

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Is there a link between choroid plexus cysts and trisomy 18?

Is there a link between choroid plexus cysts and trisomy 18?

Trisomy 18: The presence of choroid plexus cysts and other anomalies can be caused by the presence of trisomy 18 in the fetus. A solitary choroid plexus cyst is not usually associated with trisomy 18. ...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