Doctor insights on:
Soft Markers For Down Syndrome
Fetal ultrasounds in: the 1st & 2nd trimesters can show anatomical signs frequently seen in fetuses with Down Syndrome or other genetic accidents that result in 3 copies of a specific chromosome.Knowing your risk of DS, calculated by FUS findings, gestational & maternal age, 1st & 2nd trimester maternal blood screens, & a higher-resolution FUS, helps you decide if you want chromosomal testing for a definitive answer. ...Read more
Down syndrome is a genetic condition in which there is an extra chromosome present. Symptoms may range from mild to severe. Children with Down syndrome share a common physical appearance including a flattened nose, small ears, a small mouth, upward slanting eyes, and a single crease in the ...Read more
Had 1/610 for Down syndrome prior to sonogram, found bright spot in heart(soft marker) does that mean the probability is doubled ex. 1/310, high risk?
Is amniocentesis a safe enough procedure to be performed even when risk of Down syndrome per marker tests is low ?
My doctor didn't find any Down syndrome markers in the ultrasound. Does that guarantee my baby won't have down syndrome?
No. OB's combine the: results of an integrated screening test that includes specific blood tests in both the first & 2nd trimesters + the first trimester ultrasound to determine a single Down Syndrome risk rating. Only prenatal diagnostic tests of fetal genetic material for either Karyotype to determine # of chromosomes or Chromosomal Microarray to determine mutations in smaller gene sequences are definitive. ...Read more
What can I do if my doctor didn't find any Down syndrome markers in the ultrasound.Am i out of the woods?
Not necessarily: The definitive test for down or other chromosomal defects is a chromosome study on fetal cells obtained through cvs or amniocentesis. These are specific and dependable.Ultrasounds and blood tests are screening tools.They are helpful in picking out some who might need the definitive tests. At 39 you have about 1% risk for ds but another 4% risk of some other issue (premi, clefts etc.). ...Read moreSee 1 more doctor answer
What do you suggest if my doctor didn't find any Down syndrome markers in the ultrasound.am I out of the woods?
Maybe: When looking for DS there are a variety of tests used for screening. An ultrasound looks for features that are commonly found in DS, but are not 100% accurate. Tests that look at the babies chromosome pattern by obtaining fetal cells are the most accurate. When someone is in the low risk category, a negative US is probably adequate. If in a higher risk, a more specific test is advised. ...Read more
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 moreSee 2 more doctor answers
If someone in your family has down syndrome, is there a larger risk that your baby will have down syndrome?
Slight risk: Most down syndrome is sporadic. A few patients with down syndrome have the extra 21 chromosome translocated on to another chromosome. In some of these cases the parents can carry the translocated chromosome in a balanced form and they and other family members could be at increased risk to have children with the syndrome. ...Read moreSee 2 more doctor answers
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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