Doctor insights on:
Level 2 Ultrasound Down Syndrome
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
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
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 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
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 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 more
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
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 more
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
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
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?
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
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 more
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
I had an emergency ultrasound because my quad screening was abnormal. Mainly for down syndrome. Is there a chance my baby will be ok?
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?
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
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?
Which is a better predictor of Down syndrome during the first trimester screening, low papp-a or high hCG levels? Or the ratio between the two values?
Seldom happens: Most Down syndrome males are functionally sterile. Rare mosaic individuals have potential for fertility but data is not available for comprehensive review. Ds women enter puberty & childbearing at the usual time & can give birth. Data suggests less than 1/2 their offspring will be ds due to miscarriage of some ds embryos. Most are born prematurely and by c-section. ...Read more
At 37, I had two miscarriages for my second child. Does it mean if I get pregnant again my child will have down syndrome?
My daughter has down syndrome and I purchased some b12 500mcg gummy vites for her. I gave her two at dinner time, but I got up this morning half the bottle was gone. She sneaked the bottle before bed and ate 26 more. Should I be worried. She is not acti
Poison control ctr: I would checking with poison control just to confirm. ...Read more
My sister has a two yrs old Down syndrome boy. What is the chance that a second baby is also affected? Is there chance to reduce the risk?
Depends: Traditional ds (>85%) have an extra 21 chromosome & recurrence risk runs 1% for young mothers but 1% + the age factor as a women ages. There are uncommon forms of ds due to transfer of pieces between chromosome where the mom or dad could be an asymptomatic carrier. The % of those varies with the defect & it would be best to consult a geneticist. If regular ds, the numbers above apply. ...Read more
Can extremely high sugar level in a male lead to (down syndrome) in his offspring. We are so scared of making babies.
No: Males get a bit of a pass on the ds issue. You make millions of sperm that are constantly renewed and only the healthiest sperm swim well enough to conceive. Any weak ones wouldn't do the deed. Women present only one egg at a time and those show the accumulated effect of toxins an the like. You may benefit from talking with a genetic counselor to explore any risk issues. ...Read more
See below: As tests were developed to assess the fetal health it was noted that a fetus with down's syndrome had higher maternal HCG levels that a normal child. This came to be part of the test, along with maternal age and ultrasound examination, to asses the risk of having a down's child. ...Read more
Quad Marker Screen: The Quad Marker Screen is done between 15 and 20 weeks of pregnancy in select patients. It looks at levels of AFP, hCG, UE, and Inhibin-A. Low levels of AFP and UE and higher than normal levels of hCG and Inhibin-A COULD indicate that the woman is at higher risk for having a baby with Down's syndrome. It is not even close to 100% accurate (70%-80% at best). ...Read more
Wouldn't happen: Although DS girls enter puberty and become fertile the male rarely if ever achieves this status. DS females have offspring after conception by normal males, usually from abuse or incest. These are roughly half normal and half DS. Males with DS rarely if ever achieve a fertile status and because of this outcome would be unknown if ever conceived. ...Read more
My LMP is 27apr14 and my beta hCG level on 28may14 found 6805.93mIU/mL and on 30may14 is 14798.49mIU/mL. Is it normal or doubt of down syndrome?
Normal: Your HCG levels have appropriately doubled. It is a good sign of a healthy pregnancy. If you are concerned about Down's syndrome, please speak with your doctor regarding early blood tests that will help with diagnosing an abnormal pregnancy like integrated screening or verifi prenatal test. Good Luck! ...Read more
My HCG at 5w5d (evening) was 22, 000. I am concerned that this indicates down syndrome. Are high HCG levels in early pregnancy an indicator of DS?
Definitely not: This does not mean Downs, nothing suggests Down's at 5 weeks. The 22, 000 is pretty normal. Good wishes. ...Read more
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