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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

Dr. Oscar Novick
38 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

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How are scientists looking into preventing Trisomy 18 from occurring?

How are scientists looking into preventing Trisomy 18 from occurring?

There is no way to: Prevent genetic accidents that can occur as eggs & sperm split & half of the chromosomes from each join to form a new organism. Couples with increased risk of having a fetus with Down Syndrome because of known translocations or advanced maternal age can seek pre-pregnancy genetic counseling and prenatal Chromosome Analysis &/or Chromosomal Microarray when calculated risk of DS is high. ...Read more

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Risk trisomy 21:1/78 positive Risk trisomy 18:1/200 negative Any explanation as to why would be very helpful! HCG MOM:0.8 PAPPA-A MOM:0.5 NT MOM: 2.61?

Risk trisomy 21:1/78 positive Risk trisomy 18:1/200 negative Any explanation as to why would be very helpful! HCG MOM:0.8 PAPPA-A MOM:0.5 NT MOM: 2.61?

Trisomy 21: This is a common occurrence in obstetrics. Getting the screening tests and how to interpret them can be scary. Having a 1 in 78 chance of downs syndrome does not mean you have a Down syndrome baby. It means you have a greater chance than by your age alone. It also means you have a 77 in 78 chance of not having this condition. Get a Fetal DNA test to help clarify this. ...Read more

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Why doesn't my doctor want me to have this baby with trisomy 18 if I have bad heart?

Why doesn't my doctor want me to have this baby with trisomy 18 if I have bad heart?

Simple for some: Review your data. Pregnancy has increased risk to your life. This pregnancy will produce a baby with no chance of long term survival. The pragmatist would argue that you should not risk your life/health for this outcome. The ethicist would ask u to factor in your religious/spiritual views & decide. Your OB is driven to keep you alive to try another day if you decide to. ...Read more

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28 years old, nuchal translucency with blood showed trisomy 18 risk 1:1300. Dr said it's fine, but I'm worried. Does this seem high?

Trisomy 18 risk: A result of 1:1300 indicates that in 1300 pregnancies with the exact same test results, only one of them will result in a child with trisomy 18. This is approximately a 0.08% chance of trisomy 18.
This result gives a higher chance than the best risk group (less than 1:10, 000) but still reflects a low likelihood of trisomy 18. ...Read more

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IPS test screen negative (17 wks preg). Should I risk amnio due to age and previous trisomy 18?

IPS test screen negative (17 wks preg). Should I risk amnio due to age and previous trisomy 18?

IPS screen: Making a decision about whether to have further testing can be difficult. Speak to your doctor about further testing. For additional in formation you can ask for a referral for genetic counseling.
...Read more

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Retal born with Trisomy 18 and has right sided diaphragm eventration is this a lethal disease? She is 5 months old

Yes: Trisomy 18 is usually fatal in infancy. Many are shed during pregnancy as a miscarriage, others die from any number of issues including heart defects over the ensuing months. Some live a few years. ...Read more

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At my 20 week us I was told my baby has a choroid plexus cyst and a small fetal stomach. Odds of trisomy 18? F/u is in 4 weeks for routine us.

Blood test: The risk of trisomy 18 is assessed by doing blood genetic testing. A triple, quad or penta screen or alternatively fetal dna sequencing. If the blood test is normal then the presence of a unilateral choroid plexus cyst does not increase the risk of t18. If t18 is abnormal then a unilateral choroid plexus cyst can be supportive evidence. ...Read more

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What are the odds of trisomy 18 with 4 cysts, short finger and a cleft lip/palate?

What are the odds of trisomy 18 with 4 cysts, short finger and a cleft lip/palate?

Odds Not Great: The symptoms given can be found with several congenital chromosomal anomalies & do not point specifically to Trisomy 18. Palatal cleft is more commonly seen with Trisomy 13, Short fingers are commonly seen with Trisomy 21. Type of "cysts" is not given. Each Trisomy has reconizable features but there is overlap. A detailed exam by Pediatrician or Geneticst is needed to assess these findings. ...Read more

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Is there a cure for edwards syndrome trisomy?

No: Those with a standard trisomy have the abnormality in every cell of their body. The vast majority will die within the first year from one of many major congenital abnormalities with this defect. ...Read more

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Is the recurrent chance of having a pregnancy with trisomy 18 the same as trisomy 21?

Is the recurrent chance of having a pregnancy with trisomy 18 the same as trisomy 21?

Increased chance: Women who have had a previous trisomic pregnancy, particularly those under 35 years of age at the time, appear to be at an increased risk of future pregnancies being trisomic. Evidence of increased risk of the same trisomy subsequent to a previous pregnancy with trisomy 13 or 18 the increase in risk being greater for women aged under 35 at the previous trisomic pregnancy. ...Read more

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I've a healthy 2 yo. I'm 42 & trying to get pregnant. I've had 5 mc & a loss from Edwards syndrome. Can my egg quality deteriorate that much in 2 yrs?

See a geneticist: With that many MC and an Edwards, you should see a geneticist. A thorough review of the prior losses and a family history from both sides should be reviewed before your risk can be assessed. ...Read more

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What people with trisomy get dementia?

Down's syndrome: Down's syndrome involves a trisomy of the 21st chromosome, or an extra copy of chromosome 21. People with down's syndrome have a higher risk of developing dementia earlier. ...Read more

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How to know if certain people are more likely to get trisomy number 13 patau syndrome than others?

How to know if certain people are more likely to get trisomy number 13 patau syndrome than others?

Amniocentesis: Trisomy 13 can be diagnosed by amniocentesis with genetic study of the chromosomes prior to birth. ...Read more

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I heard that certain people are more likely to get trisomy number 13 patau syndrome than others, why is that?

Child of older mom: Increasing maternal age increases the risk for chromosome disorders, highlighted by trisomy 21 (down syndrome) but applying to rarer trisomies like the trisomy 13 causing patau syndrome (1 in 8000 births or so). Risks for trisomy increase gradually with maternal age, going from <1 in 2000 under 30 to ~ 1 in 50 over age 40, with age 35 arbitrarily set as high risk (~1 in 200). ...Read more

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What prenatal tests recommended even after PGS tested embryo. History of 3 MCs With turner's & Trisomy 14, age 34.Need 2nd opinion from few docs pls.?

What prenatal tests recommended even after PGS tested embryo. History of 3 MCs With turner's & Trisomy 14, age 34.Need 2nd opinion from few docs pls.?

Same tests: The curent recommendation is that patients who underwent preimplantation testing still undergo the usuall genetic testing during pregnancy. Your doctor can discuss options such as Sequential screening and cell free DNA testing. They may want to test for antiphospholipid antibodies based on your 3 miscarriages. ...Read more

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What is edwards syndrome and some common symptoms?

What is edwards syndrome and some common symptoms?

Extra chromosome 18: The edward syndrome applies to babies born with all or most of an extra 18 chromosome. Half die in the first week & only 5-10% make it past 1 year of age. The extra chromosomal material distorts the formation of major organ systems leading to major defects in the heart, brain, intestines and others. A feeble infant with low set ears, poor muscle mass & activity is the usual presentation. ...Read more

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Is it possible for a child to live with edwards syndrome?

Is it possible for a child to live with edwards syndrome?

Survival: According to the nih, half the babies born with trisomy 18 do not survive past the first week or so of life. Some children affected have survived in to the teen age years. ...Read more

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Can you tell me for edwards syndrome, how are they affected?

Trisomy 18: Edward syndrome is a chromosomal abnormality on chromosome 18. They present with multiple physical defects including cleft palate, deformed feet, small head, lung, kidney and stomach defect. Because of serious problems many don't survive to birth. Of those who do a small group live more than a year. ...Read more

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How old is that politicians child with edwards syndrome?

3: Trisomy 18 is usually fatal, but some children make it to age one and beyond. Here is a link to an article about santorum and trisomy 18 info http://republicanredefined. Com/2012/01/29/rick-santorums-daughter-bella-hospitalized-in-pennsylvania/. ...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