Doctor insights on:
Ultrasound To Detect 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
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
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
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
Screening vs confirm: By definition a screening test is done to more individuals to select the group at higher risk for a problem that justifies a greater cost definitive test.All screening tests can be falsely negative or positive. The definitive tests for DS require chromosome analysis. This can be done in limited centers by finding fetal cells in mothers blood, or by CVS or amniocentesis. ...Read moreSee 1 more doctor answer
My maternity 21 test came back positive for down syndrome, but my ultrasound is normal. Will my amnio tomorrow say the same, or different results?
Screen vs definitive: When you are trying to test for something in large populations (pregnant women) it is common to screen with a less invasive test and only do the more invasive (and costly) test if the screening suggests a problem.The amnio will get babies cells for study, and the results will be definite.A positive study means ds is present a negative, it is not.. ...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
I want to known any screening exam to rule out Down syndrome? When is the best to check it? Or only 4D ultrasound can help?
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
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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