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Doctor insights on: What Is The Result Of Ultrasound For Pregnancy In Down Syndrome

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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?

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

Dr. Michael Gabor
2,193 doctors shared insights

Sonogram (Definition)

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


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Can an ultrasound tell me if baby will have problems such as Down syndrome etc? If so in which month of pregnancy?

Can an ultrasound tell me if baby will have problems such as Down syndrome etc? If so in which month of pregnancy?

OB's offer 3 screens: 1st trimester combined test or 1st & 2nd trimester integrated test measure fetal nuchal, or neck, fold on FUS + levels of specific proteins & hormones in your blood. If risk of DS calculated from screen + your age at delivery, 1:350 if 35, 1:270 if 36, is high, choose an FUS for anatomical markers of DS + a cell-free fetal DNA blood test at > 10 wks. gestation or a more invasive diagnostic test. ...Read more

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What are some of the signs and ultrasound findings of down syndrome?

What are some of the signs and ultrasound findings of down syndrome?

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

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How could Down syndrome be missed on targeted ultrasound in a 40 year old?

How could Down syndrome be missed on targeted ultrasound in a 40 year old?

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

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Is it true that high hog levels in early pregnancy is linked to down syndrome?

Is it true that high hog levels in early pregnancy is linked to down syndrome?

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

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When do they test for Down syndrome during pregnancy?

When do they test for Down syndrome during pregnancy?

Screening for DS, : offered to all pregnant women, is done after 10 weeks' gestational age, usually at 11-13 weeks. Both the 1st trimester comprehensive screen & the 1st & 2nd trimester integrated screen use fetal ultrasounds, blood tests for specific proteins & hormones & maternal age at delivery to calculate risk of DS. (If 36, risk us 1:294; if 37, 1:227). Diagnostic tests are offered if calculated risk is high. ...Read more

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Should someone test for Down syndrome during pregnancy?

Should someone test for Down syndrome during pregnancy?

Screening for Down : Syndrome is offered to all pregnant women in the US, regardless of age. If screening test results + maternal age reveal a high risk for DS, diagnostic tests are offered. Risk for DS becomes significantly higher & increases yearly in women wil be 35 or older at the time of full-term delivery. Though screening for DS is highly recommended, pregnant women can choose not to have it done. ...Read more

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Can you tell me about causes of high risk of Down syndrome during pregnancy?

Can you tell me about causes of high risk of Down syndrome during pregnancy?

Chromosome defect: Ds is one of the more common chromosome(c) defects that can survive pregnancy (many others miscarry). It usually happens when an egg with an extra 21c combines with a normal sperm ; creates a baby with the extra 21c in all tissues.Risks vary with age and are lowest in the early 20's(1/2000), rising to 1/100 at about 40 ; 1/12 at 49.Various prenatal tests can pick up signs early on. ...Read more

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My doctor didn't find any Down syndrome markers in the ultrasound. Does that guarantee my baby won't have down syndrome?

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

Dr. John Landi
4 doctors shared insights

Pregnancy (Definition)

When your due date arrives, you will be more than ready to have your baby! Most women deliver the baby somewhere between 37 and 42 weeks. According to the American College of Obstetricians and Gynecologists, only 5% of babies arrive on the exact due date. Approximately 7% of babies are not delivered by 42 weeks, and when that happens, it is referred to ...Read more


Dr. Kathryn Akin
641 doctors shared insights

Down Syndrome (Definition)

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