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Doctor insights on: Signs Of Down Syndrome In Fetus

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What are the fetal sign and symptoms of down syndrome?

What are the fetal sign and symptoms of down syndrome?

Maternal serum : Screening at 10-14 weeks + fetal ultrasound (fus) at 11-14 weeks + maternal "quad" screen at 16 weeks detects ~ 95% of fetuses with down syndrome with <5% false-positive rate. Increased size of the fluid-filled space at the nape of the neck & abnormalities of blood flow in the heart are signs on early fus. Diagnostic testing is chorionic villus sampling at 10-12 weeks or amnio at 15-18 weeks. ...Read more

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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


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Can I take a test to see if my fetus will have down syndrome?

Can I take a test to see if my fetus will have down syndrome?

Yes: The diagnostic test for down syndrome is a fetal chromosome analysis or karyotype with fetal cells obtained by either chorionic villus sampling or amniocentesis. Both tests have complication risks. There are less invasive tests using ultrasound and blood tests that can suggest an elevated risk, but they only assess risks and are not diagnostic. ...Read more

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Are fetuses with Down syndrome still physically active?

Less than typical: A fetus with down syndrome frequently has fewer fetal movements and they tend to be less intense due to the decreased muscle tone of the fetus. ...Read more

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Can Down syndrome fetus have holes in their hearts at anytime?

Confusing question: All babies have holes in their hearts as they begin to form, but most are closed when formation is complete. About 1/3 ds infants will be born with a heart defect, most of which feature a "hole"between chambers. ...Read more

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Is fetal movement of baby with any 'problem/defect' like down syndrome, the same as a normal growing fetus?

Is fetal movement of baby with any 'problem/defect' like down syndrome, the same as a normal growing fetus?

Depends on the : Degree of low muscle tone ( hypotonia) that is present in a fetus with down syndrome ; the size (smallness for gestational age) of the fetus. Some mothers of infants with ds say they felt less fetal movement than from their non-ds fetuses; others say their fetus with ds was a good " kicker." there is a range of hypotonia in infants with ds, just as there is a range of cognitive ability. ...Read more

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Can the new test of the pregnant woman's blood fine Down syndrome DNA from the fetus?

Can the new test of the pregnant woman's blood fine Down syndrome DNA from the fetus?

Fetal DNA analysis: Harmony by Ariosa Diagnostics 99.9% accurate from 10 wk 0d, trisomy 21, 13, 18, results in 7-10 d. "For expectant parents with a financial need, regardless of insurance status, Ariosa offers assistance to those who qualify based on a sliding fee schedule." 1-855-927-4672. For testing from 9w0d, Natera's Panorama also detects microdeletions, but may be twice as expensive. (650) 249-9090. ...Read more

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I had a prenatal screening for Down syndrome in my fetus and my results was 1:182. Does that mean my baby have ds. Plz help.

I had a prenatal screening for Down syndrome in my fetus and my results was 1:182. Does that mean my baby have ds. Plz help.

No: Prenatal screening for conditions such as Down syndrome are simply estimates of how likely it is (in this case, a 1 in 182 chance). The accuracy depends on which test was used, when it was performed, and as with all tests, there are false positives and false negatives. If you want to have a better idea, you may want to consider amniocentesis or CVS (chorionic villus sampling). ...Read more

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Fetal Down syndrome testing: what are ethics if I refuse?

Fetal Down syndrome testing: what are ethics if I refuse?

Your choice: If you would never consider termination, you might still want to have more information about your future offspring.About 30% of DS babies will have a significant heard defect, their average IQ is in the 60's and all will need supervision long after you are gone. It is part of life, you can just hope or be prepared, you do get a choice. ...Read more

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What are some proposed fetal treatments for down syndrome?

Downs syndrome: There are no treatments available as yet except screening and advice if you decide to terminate the pregnancy. But there may be treatments in future related to stem cell and other advances. ...Read more

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Can hyperechoic focus in the fetal heart mean down syndrome?

Can hyperechoic focus in the fetal heart mean down syndrome?

No: It is a non-specific term reflecting an area of the heart that might have increased minieralization, and so show up more on an echo. Can be found in normal hearts at a rate of about 3%. ...Read more

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