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DNA??????????????NIPT?
DNA??????????????NIPT?
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nipt ????? ????
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Nov 01, 2022
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How I Improved My NIPT TEST In One Easy Lesson
NIPT (non-invasive prenatal testing) tests use a pregnant person's blood to detect congenital abnormalities in the fetus's DNA. DNA is screened for genetic conditions such as Down syndrome. NIPT tests do not diagnose conditions. They tell your provider how likely it is that the condition exists. This test can be performed from the 10th week of pregnancy.
NIPT stands for non-invasive prenatal testing. It is a screening test offered during pregnancy to determine if the fetus is at risk for a chromosomal disorder such as Down syndrome (trisomy 21), trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome). The test can also determine the gender of the fetus. It is done by taking a sample of your blood, which also contains fragments of DNA from the fetus. DNA makes up human genes and chromosomes and allows healthcare providers to see the genetic makeup of a fetus. A blood sample is sent to a laboratory and analyzed for specific birth defects. NIPT cannot screen for all chromosomal or genetic conditions.
What is the NIPT test screen for?
NIPT does not test for all chromosomal conditions or birth defects. Most NIPT tests show:
Down syndrome (trisomy 21).
Trisomy 18.
Trisomy 13.
Disorders affecting sex chromosomes (X and Y).
The extra chromosome causes Down syndrome, trisomy 18, and trisomy 13. Screening for sex chromosomes can help predict the gender of the fetus and can also detect differences in the usual number of sex chromosomes. The most common sex chromosome conditions are Turner syndrome, Klinefelter syndrome, Triple X syndrome, and XYY syndrome. Not all NIPT panels assess the same conditions. It is important that you talk to your healthcare provider about what your NIPT is screening for.
Why is non-invasive prenatal testing done?
Non-invasive prenatal testing helps determine the likelihood that a fetus will be born with certain chromosomal abnormalities. Health care providers may recommend it if:
You had an ultrasound which showed that the fetus may have an abnormality.
You have had an earlier screening test that indicates a potential problem.
The American Academy of Obstetricians and Gynecologists (ACOG) only recommended NIPT for pregnant individuals considered high risk. However, it is now recommended that providers offer NIPT to all pregnant people, regardless of risk.
Based on the results of the NIPT test, your obstetrician may recommend diagnostic tests. Diagnostic tests give a definitive answer about whether the fetus has a specific condition.
When should the NIPT test be performed during pregnancy?
NIPT testing can be done as early as the 10th week of pregnancy after delivery. There is usually not enough fetal DNA in the blood of a pregnant person before 10 weeks of pregnancy.
How accurate are NIPT tests?
The accuracy of the test varies depending on the condition it checks for. Other factors – such as a multiple pregnancy, surrogate or obesity – can affect NIPT results.
NIPT is about 99% accurate in detecting Down syndrome. The test is slightly less accurate for detecting trisomy 18 and 13. Overall, NIPT tests produce fewer false positives than other prenatal screenings such as the quad screen.
Is it necessary to take a NIPT test during pregnancy?
No, it is not necessary. It's a personal choice and it's normal to have questions. Your healthcare provider will discuss all of your prenatal screening options, including NIPT. Many factors can influence your decision to undergo NIPT and prenatal genetic testing in general. If you're having trouble or want to discuss screening in more detail, a genetic counselor can help you understand prenatal testing options and what might be right for you.
How do doctors perform the NIPT test?
During this test, your provider will take a sample of your blood to look for abnormalities in the fetus's DNA. Your DNA is inside all of your cells. Your cells are constantly dividing and making new cells. As cells break down, tiny fragments of DNA are released into your bloodstream. During pregnancy, a small amount of fetal DNA circulates in your bloodstream. NIPT examines these fragments of fetal DNA in your blood – known as cell-free DNA or cfDNA.
Your provider will take a blood sample from a vein in your arm. They send this sample to a lab to analyze it for specific conditions.
It is important to note that it takes approximately 10 weeks for enough fetal DNA to circulate in your blood. This is why screening is only done after 10 weeks of pregnancy.
In the context of prenatal screening, diagnostic tests such as amniocentesis and trophoblast have a high diagnostic accuracy, but are accompanied by a low risk of pregnancy elimination (1/200 to 1/400 is the rate of amniocentesis and about 1/100 for trophoblast reception).
Non-invasive prenatal testing is the latest development in prenatal diagnosis of chromosomal abnormalities. It is an innovative test based on the medical discovery that maternal blood circulates free fetal genetic material, which can now be isolated and screened for the most common chromosomal abnormalities and syndromes.
The test is performed by simply taking the mother's blood from the tenth (10th) week of pregnancy and the results are sent within five days of receiving the sample.
The process is easy, 100% safe and with high accuracy of results.
DIAGNOSTIC CHECK
Non-invasive prenatal testing can detect a wide range of chromosomal abnormalities and conditions with high sensitivity:
Trisomy
Trisomy 21 (Down syndrome) > 99.1%
Trisomy 18 (Edward syndrome) > 99.9%
Trisomy 13 (Patau syndrome) > 91.7%
Trisomy 16
Trisomy 22
Sex-linked chromosomal abnormalities (96.2%)
Turner syndrome (XO)
Klinefelter syndrome (XXY)
Triple X
Hyperthylix (XXX) Jacobs syndrome (XYY)
Fetal sex
Various microscopic syndromes caused by chromosomal deletion or lack of genetic material from a particular chromosome.
DiGeorge syndrome (22q)
Angelman/Prader-Willi syndrome (15q)
Jacobsen syndrome (11q)
Can NIPT testing be wrong for Down syndrome?
NIPT is a screening test and is therefore not perfect. It is important that you talk to your healthcare provider about your results and how you can get more information.
Is the NIPT test worth it?
It is up to you to get a non-invasive pregnancy screening or other prenatal genetic test. Your health care provider can answer any questions you have, but ultimately you must decide how a genetic or chromosomal disorder affects you and your family based on your situation.
The following questions can help you decide:
How will I feel about a positive screening result?
Would I consider diagnostic tests such as amniocentesis or CVS?
Would I do anything else if I know the fetus has a genetic disease or is at increased risk for a genetic disease?
Does this information make me feel sad, anxious, or ready to care for a child?
Would knowing this information help my provider(s) better care for my child?
How much does a NIPT test cost?
NIPT testing costs vary. Most health insurance companies cover most (if not all) of the costs. Many cover at least part of it. To be sure, check with your insurance provider before testing. If you don't have insurance or your insurance doesn't cover NIPT tests, you can pay for the test.
Can NIPT be done in 14 weeks?
Yes, NIPT can be done at any time after 10 weeks of pregnancy.
What questions should I ask my doctor about the NIPT test?
Non-invasive pregnancy screening tests are a personal choice. You may have questions about what your results mean or whether you should even have a NIPT test. Don't be afraid to ask questions. Remember that only you and your family can decide what is best for you.
METHOD RECOMMENDATION
It is recommended for all women of all ages, but is particularly indicated for pregnant women:
Age over 35 years
Are considered high risk (abnormal neck examination, abnormal Papp-a test, suspicious ultrasonographic findings, chromosomal markers in level 2 ultrasound)
With a previous history of pregnancy with a chromosomal abnormality
https://nipt.ne.jp/
Last Edited by nipt ????? ???? on Nov 01, 2022 11:55 AM
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