A superior Trisomy Test based on massively parallel Genomic sequencing for the early detection of fetal trisomies of 21,18,13 in a non-invasive and safe way.
• Trisomies of 21, 18, 13, are top three of the common chromosomal abnormalities, usually caused by the presence of one extra copies of chromosome 21, 18 or 13. About 1of every 800 children is born with Down's syndrome (trisomy 21),1 of 6000 children is born with trisomy 18,and 1of 10,000 children is born with trisomy 13. Down syndrome is characterized by special facial features and mental retardation, often accompanied by multiple organ abnormalities. Trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome) are often incompatible with survival.
• NIFTY test provides an estimation of the fetal risk being affected with "Chromosomal Aneuploidies", by detecting fetal chromosomal materials with the new generation of high- throughput sequencing technology, combined with advanced bioinformatics analysis.
• This method is non-invasive, carries no risk of causing miscarriage and intrauterine infection, and is highly sensitive with accuracy over 99%.
• This test is intended for the prenatal detection of fetal trisomies of 21, 18, 13. Moreover, it could also detect many cases of other chromosomal aneuploidies.
• Trisomies of 21, 18, 13, are top three of the common chromosomal abnormalities, usually caused by the presence of one extra copies of chromosome 21, 18 or 13. About 1of every 800 children is born with Down's syndrome (trisomy 21),1 of 6000 children is born with trisomy 18,and 1of 10,000 children is born with trisomy 13. Down syndrome is characterized by special facial features and mental retardation, often accompanied by multiple organ abnormalities. Trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome) are often incompatible with survival.
• NIFTY test provides an estimation of the fetal risk being affected with "Chromosomal Aneuploidies", by detecting fetal chromosomal materials with the new generation of high- throughput sequencing technology, combined with advanced bioinformatics analysis.
• This method is non-invasive, carries no risk of causing miscarriage and intrauterine infection, and is highly sensitive with accuracy over 99%.
• This test is intended for the prenatal detection of fetal trisomies of 21, 18, 13. Moreover, it could also detect many cases of other chromosomal aneuploidies.
Comparison of NIFTY test with the other traditional tests
| Method | Invasive/Non Invasive | Gestational Period | Description |
|---|---|---|---|
| Biochemical marker of screening of maternal blood |
Non-invasive | 11-13 +6 14-20+6 |
False positive rate 5% Detection rate 60% -80% |
| Fetal Nuchal Translucency test | Non-Invasive | 11-13+6 | False positive rate 5% Detection rate 60% - 80% |
| Chorionic Villus Sampling (CVS) | Invasive | 10-13 | Miscarriage rate 1%-2%, Detection rate >99% |
| Aminocentesis | Invasive | 16-21 | Miscarriage rate 0.5%-1%, Detection rate >99% |
| Precutaneous Umbilical Cord Blood Sampling (PUBS) |
Invasive | 20-28 | Miscarriage rate 1%-2%, Detection rate >99% |
| NIFTY Test | Non-Invasive | 12-24 | No miscarriage risk; detection rate >99% |
Advantages:
- Non-invasive: only 5 mL maternal peripheral blood is needed. Therefore, there is no risk of intrauterine infection and miscarriage.
- Highly accurate: 3464 cases of phase I clinical validation indicated that our NIFTY test is highly accurate.
- Early-test: can be performed at the early pregnancy (~12 weeks), which allows early detection for a better clinical decision.
Common Questions And Answers About NIPT
What is NIPT?
- Non Invasive Prenatal Test is a test that uses a sample of the mother’s blood during pregnancy to determine if the developing baby has certain chromosome conditions that can affect health and development.
- During pregnancy, some of the DNA from the baby (fetal DNA) crosses in to the mother’s bloodstream. This DNA carries the baby’s genetic information. It is this fetal DNA that is tested and analysed during NIPT to check for certain chromosome conditions.
What does NIPT test for?
- NIPT tests for conditions in the baby where an entire extra copy of a chromosome is present or missing. Most NIPT tests will test for common conditions including Down syndrome (Trisomy 21), Edward syndrome (Trisomy 18), Patau syndrome (Trisomy 13) and certain sex chromosome problems.
Who might want to have NIPT? The test might be useful for women in the following situation/s:
- An ultrasound indicates a problem with the baby’s growth and/or development.
- A screening test during the pregnancy has indicated that the baby is at increased risk of having a chromosome condition.
- A previous pregnancy has been affected by a chromosome condition.
- Older mothers (aged 30 years or more at the date of delivery) who are at a higher risk of having a baby with a chromosome condition
How accurate is NIPT?
- NIPT is highly accurate for the chromosome conditions that it tests for however the accuracy is not 100%.
How early in pregnancy can NIPT be used?
- The test can be used as early as 12 weeks of pregnancy though this may differ between companies offering the test.
Can NIPT harm me or my baby?
- The test is conducted on a sample of the mother’s blood. The mother may experience some discomfort or dis-tress when undergoing a blood test. There is no risk to the baby.
What if the result of the NIPT shows that the baby might have a problem?
- If the NIPT result shows that the baby has a chromosome condition, information about the condition will be provided. It is likely that your health care provider will discuss confirming any concerning test results using invasive diagnostic testing procedures such as chorionic villus sampling (CVS) or amniocentesis.