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Doctor insights on: Edwards Syndrome Trisomy 18

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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. Austina Cho
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 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

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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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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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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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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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How common is Edwards syndrome?

1 out of 5000: http://ghr.nlm.nih.gov/condition/trisomy-18

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What is the history behind edwards syndrome?

Early Chromosome DX: Dr edwards reported of the features of trisomy 18 in 1960 in the british journal the lancet. Drs patau & smith reported it in the same journal edition but the name edward syndrome has stuck. This was soon after the methods for preparing & counting chromosomes was available in research labs starting in the late 1950's. ...Read more

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What is the edwards syndrome mode of inheritance?

Sporadic event: The preparation of an egg for fertilization includes reducing all the chromosomes (22 regular pairs + a sex chm pair) from pairs to singles. The sperm then brings a single 1-22 regular +a sex chromosome. If the egg has a pair of 18 chms, then when the sperm adds the single 18 there is 3, this creates the chms imbalance in every skin cell of the fetus & results in the defects of edward syndrome. ...Read more

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What is the definition or description of: Edwards syndrome?

What is the definition or description of: Edwards syndrome?

Trisomy 18: 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, and many medical issues... ...Read more

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What are current treatments for edwards syndrome?

Much patience: Treatment for a child with edwards syndrome is very difficult. It calls for a lot of patience as these babies are severely debilitated. ...Read more

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Will a test for downs syndrome also pick up if a child will have edwards syndrome?

Will a test for downs syndrome also pick up if a child will have edwards syndrome?

Depends on test: The chromasome study preformed during chorionic villous sampling will pick up the edwards-patau syndrome trisomy 18, down syndrome t21, & the major chromasome defects to the level of the study. High resolution studies can pick additional problems. Some ob's use a blood test to decide if cvs would be needed in low risk population & screening tests are less accurate pro/con & may not pick up either. ...Read more

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Can you have a child with the physical characteristics of edwards syndrome but not have any chromosomal abnormalities?

Can you have a child with the physical characteristics of edwards syndrome but not have any chromosomal abnormalities?

Yes: Some of the physical signs of edwards syndrome are non-specific, that is, shared by other syndromes, with or without chromosomal abnormalities. No one sign is diagnostic, and several signs could be present in a child with normal chromosomes and without its having edwards syndrome. ...Read more

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Can edwards syndrome be inherited?

Edwards syndrome: Edwards syndrome is better known as trisomy 18. It is caused by imperfect division of the chromosomes with an extra chromosome ending up in the embryo. That process can happen to anyone. ...Read more

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How does edwards syndrome affect a baby?

How does edwards syndrome affect a baby?

TRISOMY 18: Edwards syndrome or trisomy e is caused by extra chromosome 18 consisting of mental retardation, severe microcephaly and many developmental anomalies. ...Read more

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What are the tests for edwards syndrome?

What are the tests for edwards syndrome?

Chromosome test: The usual test is called a karyotype. Blood cells (white cells) are obtained from the patient and the chromosomes are counted under a microscope. If there is an extra chromosome 18 then the patient has edwards syndrome or trisomy 18. This test can be done after the baby is born or it can be done in utero by amniocentesis (amniotic fluid taken from the uterus is tested). ...Read more

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What sort of disorder is edwards syndrome?

Fatal disorder: Edwards or trisomy 18 is a birth defect with a third copy of chromosome 18. Most pregnancies with an extra chromosome miscarry. Of those that are born live 50% die in two weeks only 8% live to one year. Infants with this problem tend to have many problems including heart disease, kidney disease, rounded bottoms to their feet! webbing between toes and undescended testicles. ...Read more

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What are the symptoms of edwards syndrome?

See below:: Trisomy 18 (edwards syndrome) is associated with abnormalities in many parts of the body. Individuals often have slow growth before birth (intrauterine growth retardation) & a low birth weight. Affected individuals may have heart defects and anomalies of other organs that develop before birth. Other features include a small, abnl shaped head; a small jaw/mouth; clenched fists;overlapping fingers. ...Read more

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Could you tell me more about edwards' syndrome?

Could you tell me more about edwards' syndrome?

EDWARDS SYNDROME:: A chromosomal disorder: trisomy 18. 1/ 6000 births. Low birth wt, closed fists w/index finger overlaping 3rd and 5th overlaping the 4th; small head with prominent occiput; small mandible; short sternum; rocker bottom feet; narrow hips with limited abduction; heart and kidney malformations; mental retardation........ 95% lethal in the 1st. Year. ...Read more

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How does edwards syndrome affect someone's behavior?

How does edwards syndrome affect someone's behavior?

Genetics consult: I would refer you to the genetics consult or you can ask your question online at the office of rare disease research, which can provide you with more information: http://rarediseases.Info.Nih.Gov/gard/disease.Aspx?Pageid=4&diseaseid=6321. ...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