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Doctor insights on: High Functioning Down Syndrome

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What causes high risk of my little one having down syndrome?

What causes high risk of my little one having down syndrome?

Advanced mom age: The risk of having a baby with any form of chromosome defect increases as the mother ages. It is lowest in her early 20's and rises above 1% at 40 and approach 5% at 50. It is a fact of life, that environmental toxic factors may eventually cause changes to the eggs that yield this risk. ...Read more

Dr. Kathryn Akin
654 doctors shared insights

Down Syndrome (Definition)

A genetic chromosome 21 disorder causing ...Read more


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My babies neck tissue measurement was high and they say he could have down syndrome. Can you explain this?

My babies neck tissue measurement was high and they say he could have down syndrome. Can you explain this?

Need more info: Babies with Down syndrome typically have short necks with extra tissue. Having this noted on ultrasound does not necessarily mean the baby has down syndrome, but other tests will be necessary to know this. ...Read more

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Can extremely high sugar level in a male lead to (down syndrome) in his offspring. We are so scared of making babies.

Can extremely high sugar level in a male lead to (down syndrome) in his offspring. We are so scared of making babies.

No: Males get a bit of a pass on the ds issue.You make millions of sperm that are constantly renewed and only the healthiest sperm swim well enough to conceive.Any weak ones wouldn't do the deed. Women present only one egg at a time and those show the accumulated effect of toxins an the like. You may benefit from talking with a genetic counselor to explore any risk issues. ...Read more

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Penta test came back for having high risk of Down Syndrome. How accurate is this test? Will Panorama possibly be negative?

Could be: there may be a one-in-five chance of a false positive or even a one-in-two chance, depending on the mother’s age. If the panorama is negative, then it was likely that the penta test did not screen properly. ...Read more

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Why are high hCG levels an indicator of down syndrome?

See below: As tests were developed to assess the fetal health it was noted that a fetus with down's syndrome had higher maternal HCG levels that a normal child. This came to be part of the test, along with maternal age and ultrasound examination, to asses the risk of having a down's child. ...Read more

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Is it true that high hog levels in early pregnancy is linked to down syndrome?

Is it true that high hog levels in early pregnancy is linked to down syndrome?

Quad Marker Screen: The Quad Marker Screen is done between 15 and 20 weeks of pregnancy in select patients. It looks at levels of AFP, hCG, UE, and Inhibin-A. Low levels of AFP and UE and higher than normal levels of hCG and Inhibin-A COULD indicate that the woman is at higher risk for having a baby with Down's syndrome. It is not even close to 100% accurate (70%-80% at best). ...Read more

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I am 24, and my tests indicate i'm at high risk having a Down syndrome baby. Should I have the amniocentesis?

I am 24, and my tests indicate i'm at high risk having a Down syndrome baby.  Should I have the amniocentesis?

Depends: Anyone is at risk for a baby with down syndrome. If testing shows that you are at high risk, the risks of having a baby with down synedrome are higher than the risk of pregnancy loss. The loss with amniocentesis is only 1 in 1600 in experienced hands. The only way to know whether your baby is affected or not is to have an amniocentesis. ...Read more

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My NT scan came out good but my blood work came back high risk for down syndrome(1:155) what are my chances for a healthy baby?

My NT scan came out good but my blood work came back high risk for down syndrome(1:155) what are my chances for a healthy baby?

High risk Downs: That means that you have a 1 in 155 chance of having a baby with down's syndrome. Keep in mind, you are young, and downs is more common in women of advanced maternal age. Speaking to the doctor that ordered the test is also very important. ...Read more

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Could high levels of hCG point to down syndrome? Mine were around 245, 000 at 9.2 weeks. Have had ultrasound and only one baby.

Could high levels of hCG point to down syndrome? Mine were around 245, 000 at 9.2 weeks. Have had ultrasound and only one baby.

Range for normal HCG: Levels at 9-12 weeks LMP is 25, 700 – 288, 000 miu/ml, so yours is ok. At 11-14 weeks, a skilled ultrasonographer can determine if there is increased fluid under the skin at the base of the fetus' neck, a sign that other screens or diagnostic tests for ds are neeeded. A "quad" test that measures 4 pregnancy hormones screens for increased risk of certain birth defects including ds at 16-18 weeks. ...Read more

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Can you tell me about causes of high risk of Down syndrome during pregnancy?

Can you tell me about causes of high risk of Down syndrome during pregnancy?

Chromosome defect: Ds is one of the more common chromosome(c) defects that can survive pregnancy (many others miscarry). It usually happens when an egg with an extra 21c combines with a normal sperm ; creates a baby with the extra 21c in all tissues.Risks vary with age and are lowest in the early 20's(1/2000), rising to 1/100 at about 40 ; 1/12 at 49.Various prenatal tests can pick up signs early on. ...Read more

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If I am 23yo, why would my doctor tell me I have a high risk of having a Down syndrome baby?

If I am 23yo, why would my doctor tell me I have a high risk of having a Down syndrome baby?

Down's syndrome: Women at risk are usually much older than you.
Ask your doctor if there is an indication of a chromosomal abnormality, such as having an extra piece of a 21 chromosome attached to another chromosome or a family history of young women in your family giving birth to children with down syndrome. Your doctor should be able to explain why he feels your are at risk. ...Read more

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Is high hCG in early pregnancy (5-6 weeks) and indicator of down syndrome?

Is high hCG in early pregnancy (5-6 weeks) and indicator of down syndrome?

Discuss w/ Dr.: How high? What specifics? Discuss these concerns w/ your OBGYN. I've heard that the increased risk is specifically about a small portion of the hCG called the beta subunit. If that is high, they consider it an increased risk for Down Syndrome. It's not so much a concern early in pregnancy - they usually test for this between 15-18 weeks and it's part of the quad-screening test. I hope this helps. ...Read more

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If genetic testing show a high risk of Down syndrome should you have an amniocentesis?

If genetic testing show a high risk of Down syndrome should you have an amniocentesis?

Yes: Genetic testing is just a screening test. Amniocentesis is the only test where you can confirm the findings with 100% accuracy to detect presence or absence of downs syndrome. ...Read more

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Im 28 with an IVF pregnancy. My blood work came back with a high chance of down syndrome. Someone said it might be from the ivf?

Im 28 with an IVF pregnancy. My blood work came back with a high chance of down syndrome. Someone said it might be from the ivf?

Not from ivf: Down syndrome is a chromosome defect (trisomy or translocation). It is usually sporatic without cause. It can be familial or related to maternal age. The ivf process does not cause this defect, but the ovum and sperm used may already have the defect. Direct evaluation of fetal cell dna will be necessary to confirm the diagnosis. ...Read more

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I went to the doctor today im 18 weeks pregnant but on may 2nd i had some blood work done , on today my doctor told me the risk of my baby having down syndrome is high but i didn't have a ultrasound yet to determine my baby's gender should i be worri?

I went to the doctor today im 18 weeks pregnant but on may 2nd i had some blood work done , on today my doctor told me the risk of my baby having down syndrome is high but i didn't have a ultrasound yet to determine my baby's gender should i be worri?

Confusing statement: There are some tests, which are simpler,cheeper & less invasive that screen for just risk. There are also more specific tests that decide if it is really a problem.Some blood tests & an ultrasound would be screening tests. It sounds like you need to get a more specific test. They can decide whether on not this is DS but you need to have it done immediately. ...Read more

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Ob said based on my blood protein checking for risk of birth defects like Down syndrome or spinabifida my risk is 1 out of 189. Is this a high risk?

Ob said based on my blood protein checking for risk of birth defects like Down syndrome or spinabifida my risk is 1 out of 189. Is this a high risk?

Talk to your OB: This is a question that needs a "full bodied" answer that only your treating ob, geneticist, or mfm can give.(maternal fetal medicine specialist). ...Read more

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What is down syndrome?

What is down syndrome?

Chromosome defect: Ds is one of the more common chromosome(c) defects that can survive pregnancy (many others miscarry).Eggs are supposed to have a single 21c & combine with the 21 from dads normal sperm.Here a pair of moms 21c +dad's 21 creates a baby with the extra 21c in all tissues.This extra material confuses the creation of body parts causing ds..Various prenatal tests can pick up signs early on. ...Read more

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What causes down syndrome?

DNA defects: Chromosome 21 seems to be the cause. Two most common types are trisomy 21 where ther is an entire extra chromosome in each cell. The other is translocation where only an extra piece of the chromosome is found. It can be an isolated defect or an inherited defect. Rare exotic forms include polyploidy and haploid forms and chimeras. Sorry you asked? ...Read more

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Is Down syndrome inherited?

Is Down syndrome inherited?

Not usually: The only way to inherit Down syndrome is if one parent has Down syndrome and passes 2 copies of chromosome 21. Few people with ds reproduce, so that is not usually a factor. ...Read more

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How is down syndrome treated?

How is down syndrome treated?

Medical/education: Children with Downs Syndrome have special medical and educational needs that should be determined in each individual. Doctors and Psychologists or educational specialists can determine what the needs are and how best to meet them. ...Read more

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Why is my baby down syndrome?

Why is my baby down syndrome?

Chromosome defect: Ds is one of the more common chromosome(c) defects that can survive pregnancy (many others miscarry).Eggs are supposed to have a single 21c & combine with the 21 from dads normal sperm.In ds the pair of moms 21c +dad's 21 creates a baby with the three 21c in all tissues.This extra material confuses the creation of body parts causing ds..Various prenatal tests can pick up signs early on. ...Read more

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How is Down syndrome treated?

Down syndrome : Down's syndrome may be detected before birth (prenatally) or after birth (postnatally). It cannot be cured but treatment and support can help someone with Down's syndrome to lead an active life. A number of advice and support groups are available for people with Down's syndrome and their families and carers. ...Read more

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Why does Down syndrome happen?

Mistake in chromosom: During the formation of normal eggs or sperm the chromosome(c) pairs are supposed to split leaving one of each in the egg/sperm.At conception the joining of egg/sperm brings together the pair & as tissue grows it has the proper number in each cell. With ds the egg has a pair of 21c and at conception a triple 21 is created. All cells derived after will have an extra 21 & become a ds child. ...Read more

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How is Down syndrome inherited?

How is Down syndrome inherited?

Rarely: Downs syndrome is usually related to a trisomy defect that develops during the initial cleavage of the cells during primary fetal development. A form can occur as a translocation that may be carried by a parent. An assumption is that the 21 chromosome may be damaged by maternal age or by some environmental factor that then results in downs syndrome. Most cases are just by chance. ...Read more

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How can you inherit down syndrome?

Depends on parents: An unaffected mother or father could have a balanced(normal) set of chromasome material where a piece of one 21 chromasome is stuck on another.If the egg or sperm had the normal 21 and an extra 21piece hidden on another chromasome, they could pass it to the baby. It only takes an extra piece of 21 to cause ds.It is important to study ds to verify type, as translocation ds can recur each pregnany. ...Read more