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Doctor insights on: Down Syndrome Triple Screen

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If I don't intend to have abortion, why should I let them screen for down syndrome?

If I don't intend to have abortion, why should I let them screen for down syndrome?

For knowledge: Down syndrome screening help parents prepare for the birth and future care of a down syndrome baby. Most initial screening during pregnancy carries no risk to the infant. Many women choose to be screened even if they plan to continue the pregnancy regardless of the result. ...Read more

Dr. Michael Gabor
5 doctors shared insights

Triple Screen (Definition)

Newborn screening tests look for serious developmental, genetic, and metabolic disorders so that important action can be taken during the critical time before symptoms develop. Most of these ...Read more


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I had my 20wk ultrasound.They told me that she had a mild increase in nuchal fold.Quad screen was negative.Could my baby have down syndrome?Worried

I had my 20wk ultrasound.They told me that she had a mild increase in nuchal fold.Quad screen was negative.Could my baby have down syndrome?Worried

See below: First off, it's very easy and common to make the nuchal fold look big when it really isn't, so that's the good news. Bad news is that if it truly is thickened, it is concerning. A nuchal fold over 6 mm increases the risk of down's by 17 times. So divide your quad screen results by that for true risk. Again, if truly large, would consider an amniocentesis. Could also get a level 2 us to confirm. ...Read more

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How accurate is triple AFP test for down syndrome?

How accurate is triple AFP test for down syndrome?

Not very.: The triple screen will detect about 70% of mothers carrying babies with down syndrome, but it is only a screening test and does not diagnose down syndrome. There are many false positive tests ("abnormal" tests in women who are carrying babies that do not have down syndrome). A newer blood test for fetal dna in the mother's blood can actually diagnose down syndrome in women who are at higher risk. ...Read more

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How many ways can Down syndrome develop?

Extra 21 chromosome: The majority of down syndrome develops when the fertilized egg gets an extra number 21 chromosome from the mother. When that cell divides and forms an embryo, every one of the cells in the baby's body have that extra 21 chromosome. There are rare cases where a baby inherits an extra part of the 21 chromosome from one of it's parents. The extra genes on the 21 chromosome cause the down syndrome. ...Read more

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How to train children with down syndrome?

How to train children with down syndrome?

For an assessment : of the child's developmental needs & toilet-training readiness, if < 3 yrs. old, call Pam Barton, Franklin County Help Me Grow Coordinator at (614) 227-9860. If 3-5 yrs. old, call Lynn Brannon, Director of Early Childhood Special Education at (614) 542-4106. At the same time, call (614) 355-8080 for an evaluation at the Down Syndrome Clinic, Nationwide Children's Hospital, (614) 355-8080. ...Read more

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How can Down syndrome effect your health?

How can Down syndrome effect your health?

Every cell affected: Down syndrome is caused by having an extra copy of chromosome 21. Typically, this is caused by having three full copies of chromosome 21, also known as trisomy 21. Every cell in the body has an abnormal number of chromosomes, so it's easy to imagine that multiple organ systems would be affected. A valuable resource for down syndrome health supervision is available from the aap. www.aap.org. ...Read more

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How is for a child living with down syndrome?

Broad topic: A bit too broad for a 400 character answer. You might explore the official website of the national down syndrome society & check out thir regular stories on this topic. www.ndss.org/my-great-story. ...Read more

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What can I do to know if I have down syndrome?

Blood test: The confirmation of this diagnosis is best done with a blood test with chromosome analysis. This is the best way to confirm or exclude the diagnosis.It also allows for sub-classification into the several forms.There is classical, mosaic, and translocation forms of ds. ...Read more

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What body systems are affected by down syndrome?

What body systems are affected by down syndrome?

Multi-system: Heart, thyroid, eyes, iq are the most common to be affected. The child may have a slight problem or a significant impairment in one or several of those areas. ...Read more

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I have a child with down syndrome? What do I do?

I have a child with down syndrome? What do I do?

Down's Syndrome: Your pediatrician will be very familiar with this, and will help you. You can also look for a local support group. There is also a national group, as well. http://www.ndss.org ...Read more

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What areas of the body does Down syndrome affect?

Downs Syndrome: Downs syndrome affects the nervous system like intelectual disability.It can affect heart with congenital heart disease.Thyroid may be affected like congenital hypothyroidism, increased incidense of hirschsprung disease, duodenal atresia, gastro esophagial reflux disease.I fertility in men and women have increase incidence of misscarriage, prematurity.Risk of epilepsy, eye and ear diorders&hearing loss. ...Read more

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Is Down syndrome sex linked/recessive/or dominant?

Is Down syndrome sex linked/recessive/or dominant?

None of the above: Down syndrome happens when an extra 21 chromosome is present in all the cells of the body. It happens before conception when the donor egg fails to shed one of its 21 chromosomes in the formation of the egg; the male 21 joins the female pair & creates an embryo with 3 number 21's. It has nothing to do with traits or mutations in the gene code. ...Read more

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What are symptoms of major diseases in down syndrome?

What are symptoms of major diseases in down syndrome?

Variable: The most significant symptoms happen if the child with down's has cardiac defects. Some of these defects may require surgery. Immunity issues may exist that predipose to infection and/or leukemia ( a blood cancer). ...Read more

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Do you think an adult could have mosaic down syndrome?

Do you think an adult could have mosaic down syndrome?

Accounts for 1% DS: Mosaicism is encountered in ds patients & I have followed one in the past. By definition, some tissues are composed of cells with normal information & other tissues have the abnormal, but the mix could vary greatly in the percentage of either. Functional outcome depends on that blend & whether the abnormally derived tissues compose critical structures like brain, blood, reproductive organs, etc. ...Read more

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Is there any way to naturally lower the risk of down syndrome?

Is there any way to naturally lower the risk of down syndrome?

No Except....: The risk of having a baby with down's syndrome increases with the age of the mother. Thus having children at younger ages is the only known way to naturally lower the risk. ...Read more

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How many cases of Down syndrome are reported around the world?

How many cases of Down syndrome are reported around the world?

DS Education Inter-: national estimates that there are 1.6 million children under the age of 18 who have Down Syndrome. See http://www.dseinternational.org/en-us/about-down-syndrome/ ...Read more

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Please tell me the characteristics of Down syndrome for a baby?

Please tell me the characteristics of Down syndrome for a baby?

DEPENDS ON SEVERITY-: Poor muscle tone; flat face ; nasal bridge; upward slanted eyes w/epicanthic folds; low set ears; open mouth w/protruding tongue; short neck w/excessive skin on nape; short, broad hands; incurved 5th finger; transverse palmar crease; wide gap betn 1st ; 2nd toe; joint hyper flexibility; intellectual/ developmental delay w/mental retardation; congenital heart ; GI malformation, short stature etc. ...Read more

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What are the chances that one of my children will have Down syndrome?

What are the chances that one of my children will have Down syndrome?

ACOG charts show the: risk of having a fetus with a Trisomy 21, Down Syndrome, at prenatal diagnosis vs. the risk of having a live-born infant with DS because ~ 25% are lost. If there is no family history or prior infant with DS, at age 42 at delivery,the risk is 1/63; risk at 16 weeks' gestation is 1/50 - 1/55. Risk of any chromosomal disorder at term is 1/42. If 43 at term, DS risk is 1/49; of any trisomy, 1/33. ...Read more

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I'm just wondering, if you had down syndrome, would you take a drug to counteract the effects?

What drug ????: There is no drug to counteract the effects of down syndrome. This chromosomal disorder puts extra chromosome material in every cell of the body.That extra material is like having 2 sets of conflicting blue prints to build a house.Stuff doesn't come out right. ...Read more

Dr. Kathryn Akin
646 doctors shared insights

Down Syndrome (Definition)

A genetic chromosome 21 disorder causing ...Read more