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Doctor insights on: Trisomy 18 Down Syndrome

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Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
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What's the relationship between trisomy 21 and down syndrome?

What's the relationship between trisomy 21 and down syndrome?

Name game: Dr.Langdon Down worked at a home for the retarded in Britain in the 1800's.He was credited for the first published description of the syndrome that would carry his name. After the human chromosomes were identified and numbered in the 1950's, DS was studied and trisomy 21 was identified in most. Later studies show an extra piece of a specific area of the 21 is all that is needed to have DS. ...Read more

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Dr. Barbara Lavi
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


Dr. Maya Vazirani Dr. Vazirani
Pediatrics - Neonatology
49 years in practice
Maharashtra University of Health Sciences, Seth G. S. Medical College
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My trisomy is 1:14. What is the chance of my baby will have down syndrome. Ultrasound clear.

My trisomy is 1:14. What is the chance of my baby will have down syndrome. Ultrasound clear.

T1;14(p22;q32: commonly seen in extranodalMZL associated with lymphomas downs syndrome translocation involves different chromosomes so the chance of downs syndrome is that of the general public not any more ...Read more

Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
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I was told my unborn baby has a 1:120 chance of trisomy 21. I am doing more testing, but how concerned should I be that my baby has down syndrome?

I was told my unborn baby has a 1:120 chance of trisomy 21. I am doing more testing, but how concerned should I be that my baby has down syndrome?

Glass half empty ?: You can also look at this as a 98+% chance you don't. Any pregnancy has about 4% chance olf some unexpected outcome, including prematurity, birth defect, sick baby, etc. If your like most moms you worry about stuff like this happening anyway, it was just brought into focus by the comment. Hang in there and try to enjoy the idea you wile likely have no problems. ...Read more

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Dr. Osman Farooq Dr. Farooq
Pediatrics - Neurology
16 years in practice
University of Karachi, Dow Medical College
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How can you treat Down syndrome (trisomy 21)?

How can you treat Down syndrome (trisomy 21)?

Supportively: Down syndrome itself does not need to be treated however certain conditions that can go along with ds should be managed and prevented if possible. These include monitoring for disturbances in growth and obesity, getting a cardiac workup to evaluate the heart function, have hearing and vision testing, check thyroid function, monitor the blood yearly for abnormal blood counts, good dental hygiene. ...Read more

Dr. Tanya Russo Dr. Russo
Pediatrics
21 years in practice
Nova Southeastern University College of Osteopathic Medicine
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7month baby(Down Syndrome-trisomy 21).Friend suggested NuTriVene-D vitamins (Daily Supplement, Daily Enzyme, and NightTime Formula).What do you think?

7month baby(Down Syndrome-trisomy 21).Friend suggested NuTriVene-D vitamins (Daily Supplement, Daily Enzyme, and NightTime Formula).What do you think?

Supplement review: Although I do not have first hand experience with this product, I have reviewed the website and their claims. They claim to manufacture according to current Good Manufacturing Processes, have FDA inspected facilities, and appear to have policies for lab testing for product purity and quality. These practices are generally good indicators of a reputable company, so the product is likely safe. ...Read more

Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
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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

Dr. Gregory Mosolf Dr. Mosolf
Pediatrics
20 years in practice
University of Toledo College of Medicine
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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

Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
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How do you treat edwards syndrome (trisomy 18)?

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

Dr. Gregory Mosolf Dr. Mosolf
Pediatrics
20 years in practice
University of Toledo College of Medicine
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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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Dr. Craig Uhl Dr. Uhl
Pediatrics
23 years in practice
University of Chicago Pritzker School of Medicine
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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

Dr. Ankush Bansal Dr. Bansal
Internal Medicine
13 years in practice
Creighton University School of Medicine
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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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Dr. Jerry Casale Dr. Casale
Pediatrics
34 years in practice
Technical University of Santiago (UTESA) School of Medicine
14
Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
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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

Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
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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

Dr. Carla Enriquez Dr. Enriquez
Pediatrics
46 years in practice
Boston University School of Medicine
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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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Dr. Pam Yoder Dr. Yoder
Obstetrics & Gynecology - Maternal Fetal Medicine
years in practice
University of Illinois College of Medicine
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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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Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
19

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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

Dr. James Ferguson Dr. Ferguson
Pediatrics
42 years in practice
University of Texas Medical Branch School of Medicine
20

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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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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


Dr. Kathryn Akin
648 doctors shared insights

Down Syndrome (Definition)

A genetic chromosome 21 disorder causing ...Read more