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Ultrasound Of Baby With Down Syndrome
Down's Screening: Full intergrated test consists of ultrasound measurement of nuchal translucency at 10 to 13 weeks combined with other test for serum markers has the detection rate of 85 to 95 percent and the lowest false positive rate for Down's syndrome screening tests ...Read moreSee 2 more doctor answers
The sonogram is a test that looks at body organs with no radiation. It uses sound waves and can give us a 2 dimensional view of organs such as the kidney, liver, heart, and lungs. It can define spaces that are either solid or full of fluid. I can also guide large needles into an organ or near the spine, and can help define the area being cut open. Its a ...Read more
Not precisely!: Ultrasound cannot diagnose a fetus with down syndrome (trisomy 21). It can pick up "soft" markers for downs. If you indeed identify soft markers, a discussion with your physician is critical to ascertain the risk of having an infant with a chromosomal abnormality. Further prenatal testing may be considered such as cvs or amniocentesis. It can be a difficult decision to make. ...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
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
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
Can a 20 week Anatomy ultrasound pick up down syndrome in the baby ? I have an increased risk of a 1 in 89 chance of having my baby born with DS
Didn't you ask this?: Your risk assessment was obsolete, Ultrasound detection of Down at 20 weeks misses many. Demand a test of freei fetal DNA in your blood sample--your PCP can order the Harmony test from Ariosa: call 1-855-9-ARIOSA (855-927-4672) In over 15,000 pregnancies they detected 100% of Down syndrome and the chance of a false positive was less than 1 in 1000. Results in 4 to 8 days. ...Read more
I had an emergency ultrasound because my quad screening was abnormal. mainly for down syndrome. is there a chance my baby will be ok?
Yes: Women with quad screen positives will have a chance to carry infant with Down syndrome at risk of 1 in 117. Integrated screening test that identifies 90 percent of Down syndrome pregnancies with only 2 percent false positive rate will identify a group of women to have Down syndrome pregnancy at risk of 1 in 16. ...Read more
I had a 12 ultrasound and no nasal bone was found that's it mean my baby has Down syndrome or it may be to little to tell help i'm worried please?
Needs followup: Although suspicious, it may be too early to tell for sure. Data are better for 2nd trimester ultrasounds, in the 15 to 20 week range. Please see your ob/gyn and discuss consultation with high risk OB and a plan for further testing and additional OB us. Based on epidemiology (population analysis - not necessarily true for you!): hypoplastic nasal bones - .5-1.2% normal fetuses vs. 43-62% down's. ...Read more
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
Very skilled US: 1st trimester: nuchal translucency wider than normal. Non-Visualization of the nasal bone is sufficient to warrant diagnostic testing. 2nd trimester: most important are cystic hygroma or increased nuchal thickness; dilated ventricles of the brain, absent or small nasal bone, anomalous right subclavian artery. Heart defects, particularly conotruncal, short femur or humerus, duodenal atresia ...Read moreSee 1 more doctor answer
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
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