Doctor insights on:
Trisomy 21 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
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
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 moreSee 1 more doctor answer
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
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 moreSee 1 more doctor answer
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 moreSee 2 more doctor answers
My doctor called me and told that my blood test came back postive 1 out 8 for down syndrome. Should I abort?
I'm 32, trisomy 13/18 u/s show 1:750, blood test shows 1:396. Doc says normal but offered extra test 4 PC of mind. Should i be concerned about result?
Only reason: Is to take the test for your peace of mind. Always a slight chance. ...Read more
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
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?
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
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