GESTATIONAL WINDOW
From 9th week
Our Tests / NIPT / Optima NIPT / Patient Information
Optima NIPT Patient Information
Optima NIPT is a clinically focused, non-invasive prenatal screening test that analyzes cell-free fetal DNA in maternal blood to assess the risk of selected chromosomal abnormalities early in pregnancy. Designed to deliver clear, reliable, and clinically meaningful results, Optima NIPT supports confident decision-making while minimizing uncertainty and unnecessary invasive procedures. Its targeted genomic approach focuses only on conditions with established clinical relevance, ensuring that every result is actionable and aligned with modern prenatal care guidelines.
Optima NIPT video
0:00 / 0:00Result Timing
5-7 working days
Sample Type
Maternal Blood
Safety
Non-invasive
Understanding your results
Optima NIPT provides a clear, structured report that indicatings whether the pregnancy is at very low risk or very high risk for the conditions included in the selected panel. Reports are designed to be easy to interpret and include fetal fraction, a summary of findings, and guidance on next steps. Results are typically available within 5–7 working days from sample receipt.
Your report may show one of the following:
A very low risk result indicates that the likelihood of the fetus having the specific condition tested is low. This result can provide strong reassurance, but no screening test can exclude every possibility or guarantee that a baby does not have a genetic condition.
A very high risk result means there is an increased likelihood that pregnancy may be affected by a specific condition included in the test. Because Optima NIPT tests are screening tests, not diagnostic tests, a very high risk result should be discussed promptly with a healthcare professional and confirmed with diagnostic testing, such as amniocentesis, before clinical decisions are made.
An Inconclusive Result may occur due to biological factors, such as maternal mosaicism, maternal chromosomal abnormalities, residual cfDNA from a vanished twin, or other rare molecular events, or due to technical reasons. Rarely, a No Result may occur due to a low percentage of fetal fraction (less than 3%). In both cases, a repeat sample may be recommended. Results should always be interpreted together with other clinical findings and discussed with the healthcare provider, who will advise on any further testing or clinical management if needed.
Definition of Performance Terms
Sensitivity refers to the ability of the test to correctly identify pregnancies that are affected by a specific condition. For example, for common chromosomal conditions such as Trisomy 21, Optima NIPT demonstrates a detection rate greater than 99%, meaning that the vast majority of affected cases are correctly identified as high risk.
Specificity refers to the ability of the test to correctly identify pregnancies that are not affected by a condition. High specificity reduces the likelihood of false positive results and supports more accurate risk assessment.
PPV represents the probability that a pregnancy with a high-risk result is truly affected by the condition. For example, when a high-risk result is reported for Trisomy 21, there is a high likelihood that the condition is present; however, confirmatory diagnostic testing is always recommended, as screening results are not definitive.
NPV represents the probability that a pregnancy with a low-risk result is truly unaffected. A high NPV provides reassurance that the likelihood of the screened condition is very low.
Complete Test Specifications for Singleton, Twin/Vanishing Twin, IVF Pregnancy (self-egg used, donor-egg used, surrogate)
- Optima NIPT is validated for use across a range of pregnancy types, including singleton pregnancies, twin/vanishing twin and IVF pregnancy with self-egg used, donor-egg used and surrogate. Test performance is based on analytical validation studies and clinical data, with a focus on delivering reliable and clinically meaningful results across diverse patient populations.
When can I take the test?
Optima NIPT can be performed from the 9th week of pregnancy onwards, allowing you to receive information early in your pregnancy journey.
What does the test screen for?
Optima NIPT screens for conditions that are known to have clinical importance:
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Turner syndrome (45, X)
Triple X syndrome (47, XXX)
Klinefelter syndrome (47, XXY)
Jacobs syndrome (47, XYY)
XXYY syndrome (48, XXYY)
22q11.2 deletion syndrome (DiGeorge syndrome)
1p36 deletion syndrome
Wolf–Hirschhorn syndrome
Smith-Magenis syndrome
Cri-du-chat syndrome
Prader-Willi syndrome
Angelman syndrome
Is the test safe?
Yes. Optima NIPT is completely safe for both mother and baby, as it only requires a blood sample from the mother.
How accurate is the test?
Optima NIPT is highly accurate, especially for common conditions like Down syndrome, with very high detection rates.
However, it is important to understand that:
- This is a screening test, not a diagnostic test
- Results show the likelihood of a condition, not a confirmed diagnosis
Who can consider this test?
- All pregnant individuals from 9th week onwards
- All maternal ages and backgrounds
- Singleton and twin pregnancies
- IVF pregnancies including self-egg, donor-egg and surrogate cases
What are the benefits of NIPT?
- Early information about your baby's health
- High accuracy compared to traditional screening
- No risk to the baby
- Helps reduce the need for unnecessary invasive procedures
What are the limitations?
- It does not test all genetic conditions
- It is not a diagnostic test
- Some results may require follow-up testing
What happens next?
- After receiving your results, your healthcare provider will guide you on the next steps and help you understand what the results mean for your pregnancy.
A test designed for clarity and reassurance
Optima NIPT is designed to provide clear, reliable information so you can feel more confident and informed throughout your pregnancy.
Important Considerations
Optima NIPT is a screening test, not a diagnostic test.
Any high-risk result should be confirmed with diagnostic testing such as amniocentesis.
References
- Dungan JS, Klugman S, Darilek S, et al. Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023;25(2):100336.
- ACOG Committee on Practice Bulletins. Screening for fetal chromosomal abnormalities. Obstet Gynecol. 2020;136(4):e859-e867.
- Hui L, Maron JL, Bianchi DW, et al. Position statement from the International Society for Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies. Prenat Diagn. 2023;43(7):814-828.
- Kypri E, Tsangaras K, Achilleos A, et al. Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the Veracity test. Mol Cytogenet. 2019;12:34.
Contact Us
Is Optima NIPT Right For You?
We're here to help you find out.