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Doctor insights on: How Do They Test For Down Syndrome In Pregnant Women

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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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Dr. Stephen Scholand
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


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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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I am 34 years old female. And now I am pregnant, 16 weeks. And I worry about my baby's health, for example, Down syndrome, congenital CP. ?

I am 34 years old female. And now I am pregnant, 16 weeks. And I worry about my baby's health, for example, Down syndrome, congenital CP. 
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Congrats!: Normal concerns, they come with every pregnancy. Te good news is screening for problems is more common and 3D and 4D ultrasounds practically let us see the fetus. Cerebral palsy happens around the birth experience not in your womb. Just relax, enjoy your pregnancy and let the docs be vigilant about assessing the health and well being of your baby. :) ...Read more

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What is the best test that my wife can do it to detect down syndrome? My wife now is pregnant with first trimester

What is the best test that my wife can do it to detect down syndrome? My wife now is pregnant with first trimester

Tests for Downs: There are several tests that are used to detect downs syndrome. There is a new blood test being introduced that purports to diagnose downs syndrome early in the pregnancy. Other tests include ultrasound of the fetus looking for nuchal folds or hert abnormalities characteristic. The statndard test is amniocentesis., which is done between 12 and 16 weeks. ...Read more

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What are the typical prenatal tests to check for down syndrome? What week of pregnancy do they typically test for this?

Integrated Prenatal: Screening determines risk of Down Syndrome or other Trisomies, calculated from findings on 1st & , often, 2nd trimester Fetal Ultrasounds, 1st & 2nd trimester specific maternal blood tests + gestational & maternal age, so parents can decide if they want a diagnostic test for analysis of fetal chromosomes. See http://www.womenandinfants.org/pdc/integrated-screening-test for specific markers. ...Read more

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My first baby is down syndrome, what is the test must my wife doing during the first trimester of second pregnancy?

My first baby is down syndrome, what is the test must my wife doing during the first trimester of second pregnancy?

Depends: Your risk of a second ds birth is about 1% plus any age factor risk if the first baby was a 21 trisomy.The most specific tests would be chorionic villus sampling or amniocentesis for chromosomal analysis. Cvs can be done in early pregnancy and amniocentesis around 16 wks.Both procedures have some risk to mom and the baby.There are some less invasive but less definitive tests.Ask ur doc. ...Read more

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Will cystic fibrosis mutation test detect Down syndrome during pregnancy?

Will cystic fibrosis mutation test detect Down syndrome during pregnancy?

Separate study: If you are having the one study done it is simple enough to arrange for the other study at the same time. They are separate tests and often done at a separate lab. ...Read more

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5 months pregnant. On amniotic fluid sample test, "fetal karyotype was found to be 47, ##, +21 indicating down syndrome.". Should i go for abortion?

5 months pregnant. On amniotic fluid sample test, "fetal karyotype was found to be 47, ##, +21 indicating down syndrome.". Should i go for  abortion?

Personal decision: Yes, your child has down's syndrome. I have no idea how those children are treated in india. However, they are the most loving, kind people i care for. They have the capacity for love and joy unlike any of my other patients. Will the child require extra care and have different needs - absolutely. Only you can decide if you have the capacity to provide this and continue the pregnancy. ...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