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Doctor insights on: Trisomy 21 Blood Test

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What can you tell me about Down syndrome blood test?

What can you tell me about Down syndrome blood test?

The blood test.: The blood test is testing for 3 copies of chromosome #21 in cells. We normally are only supposed to have 2 copies of chromosome #21 in each cell (1 copy from mother, 1 copy from father). If there are 3 copies found then the Diagnosis of Downs Syndrome (also called Trisomy 21) is made. ...Read more

Dr. Kathryn Akin
641 doctors shared insights

Down Syndrome (Definition)

Down syndrome is the classic presentation clinically of the congenital malformation syndrome also known as Trisomy 21. Classic features may include simian creases, epicanthal folds, upslanting palpebral fissures, flat nasal bridge, hypertelorism, low set ears, endocardial cushion defects of the heart, atlanto-axial joint instability, blood ...Read more


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How to know if the baby is Down syndrome or mosaic down without blood test?

How to know if the baby is Down syndrome or mosaic down without blood test?

Why do you ask?: You're going to need labs to determine this. Please forgive my frankness. Having a child with possible Down's is an extremely serious business and anyone who would trivialize this by saying, "Let's skip the labs that will establish the diagnosis" is doing both the child and the family a grave disservice. ...Read more

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Told that my blood test came back 1 out 8 for down syndrome. Is that highrisk?

Told that my blood test came back 1 out 8 for down syndrome. Is that highrisk?

Yes: There is a new blood test called maternit21 plus that is available that will spare a great deal of expectant mothers the possibility of miscarriage at amniocentesis. This is done by doing a blood test on the mother to assess for circulating fetal dna using molecular techniques. It is not yet fda approved. http://www.sequenomcmm.com/home/. ...Read more

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Has any one had the blood test positive for Down syndrome but then ultrasound showed the baby fine?

Has any one had the blood test positive for Down syndrome but then ultrasound showed the baby fine?

Accuracy matters: The ultrasound is a screening test, and as such may over or underestimate the presence of what is being looked for. Accuracy is often dependent on the training of the tech and or who reads the study.The blood test is a definitive test, it is either positive or not.I would never rely on the ultrasound for any decision other than pushing me to order the blood test . ...Read more

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Does a positive blood test for Down syndrome mean my baby will be born with it?

Does a positive blood test for Down syndrome mean my baby will be born with it?

Too sensitive a: Question. It is not clear what you mean by blood test. If it is a screening test, then you need to get additional tests, like amniocentesis done for a definitive answer. Please discuss the matter with your doctor and i wish you and your baby the best. ...Read more

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My doctor called me and told that my blood test came back postive 1 out 8 for down syndrome. Should I abort?

My doctor called me and told that my blood test came back postive 1 out 8 for down syndrome. Should I abort?

Additonal tests: There are additional, more definitive tests, e.g., amniocentesis, ultrasound examination, that should be done before you make a decision. The topic is not suitable for consultation in this forum. Please consult your doctor. ...Read more

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My wife 's blood report shows some signs of trisomy and she is in 20th week of pregnany .Is this is always evedential that this will affect the baby?

My  wife 's blood report shows some signs of trisomy and she is in 20th week of pregnany .Is this is always evedential that this will affect the baby?

Depends.: If your wife had a quad screen with increased risk for fetal trisomy 21 or 18 then it is not diagnostic and a targeted fetal ultrasound should help modify her risk. If she had maternit21/harmony testing of fetal dna in the maternal circulation and found trisomy 21, 13 or 18, then it is virtually diagnostic and merits invasive prenatal diagnosis even if ultrasound is normal. ...Read more

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Nuchal translucency measured 2mm and blood work came back very low risk of trisomy 21 and 18(less than 1/10000). Do i need any other testing done?

Nuchal translucency measured 2mm and blood work came back very low risk of trisomy 21 and 18(less than 1/10000). Do i need any other testing done?

Talk to OB: There are various other tests that can be done if you are concerned. These would include amniocentesis. I would talk to your OB for a full discussion of the risks and benefits before trying other tests. ...Read more

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Can I trust the results of a qualitative blood test 21 days after sexual encounter?

Can I trust the results of a qualitative blood test 21 days after sexual encounter?

May be: The results will be accurate but may not answer your question. Did you miss a period? If not you may have tested too early to detect pregnancy. Even the blood test should be done a day or two after missed period. A negative result on a test done too early does not rule out pregnancy. ...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