Doctor insights on:
Ultrasound 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
An ultraound, also known as a sonogram, is a painless and relatively inexpensive imaging test that utilizes sound waves instead of ionizing radiation. There are no side effects. Ultrasound can give us two-dimensional, and in some applications three-dimensional, images of structures and organs in virtually any part of the body. In addition to diagnostic uses, such as evaluating abnormalities in the abdomen, pelvis, and breast, ultrasounds are commonly used to guide needle and catheter placement in a variety of surgical ...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
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
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?
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
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
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
T1;14(p22;q32: commonly seen in extranodalMZL associated with lymphomas downs syndrome translocation involves different chromosomes so the chance of downs syndrome is that of the general public not any more ...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
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