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Optima NIPT Plus+ Patient Information
Optima NIPT Plus+ is an advanced non-invasive prenatal screening test that combines chromosomal analysis with screening for inherited genetic conditions in a single, integrated workflow. By analyzing both maternal and paternal DNA alongside fetal cell-free DNA, it provides a comprehensive assessment of the risk for chromosomal abnormalities, clinically relevant microdeletions, and a broad panel of monogenic disorders. Designed to deliver clear, clinically actionable insights early in pregnancy, Optima NIPT Plus+ supports more informed decision-making and a deeper understanding of fetal health.
Optima NIPT Plus+ video
0:00 / 0:00Result Timing
5-7 working days
Sample Type
Maternal Blood & Paternal Cheek Swab
Safety
Non-invasive
Expected results of Optima NIPT Plus+ test?
Optima NIPT Plus+ can be performed from the 9th week of pregnancy onwards, allowing you to receive information early in your pregnancy journey.
Understanding your results
Optima NIPT Plus+ provides a clear, structured report that indicates whether your 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. However, it does not completely exclude the possibility of the condition or other genetic abnormality. For OPTIMA NIPT Plus+, a very low-risk result reduces but does not eliminate the possibility that the fetus may be affected or be a carrier of the monogenic conditions screened.
A very high risk result indicates an increased likelihood that the fetus may be affected by the specific condition tested. In twin pregnancies, a very high risk result indicates an increased likelihood that at least one fetus may be affected. For OPTIMA NIPT Plus+, results for single-gene disorders are based on the analysis of parental genetic information. When both biological parents are identified as carriers of the same condition, a very high fetal risk is reported. For autosomal recessive conditions, this corresponds to a 1 in 4 (25%) risk that the fetus is affected, and for X-linked conditions, up to a 1 in 2 (50%) risk that a male fetus is affected. Further diagnostic testing, such as amniocentesis, is recommended to confirm a very high risk result.
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 Plus+ 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)
- Optima NIPT Plus+ are validated for use across a range of pregnancy types, including singleton pregnancies, twin/vanishing twin and IVF pregnancy with self-egg used. 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.
Test Specifications for Dizygotic (Non-Identical) Twins
Optima NIPT Plus+ is also designed for use in dizygotic (non-identical) twin pregnancies, where each fetus contributes independently to the circulating fetal DNA. Advanced analytical methods enable accurate assessment of chromosomal risk in twin gestations, supporting clinical decision-making in these more complex scenarios. While performance remains high for common trisomies, interpretation in dizygotic twins requires consideration of biological factors such as fetal fraction contribution from each fetus. As with all NIPT results, findings should be evaluated in the context of the overall clinical picture and confirmed with diagnostic testing when indicated.
When can I take the test?
Optima NIPT Plus+ can be performed from the 9tth week of pregnancy onwards, allowing early and comprehensive insight into your baby’s health.
What does the test screen for?
Optima NIPT Plus+ includes all the conditions screened by Optima NIPT, plus additional inherited conditions:
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
Cystic fibrosis
Beta-thalassemia
Tay-Sachs disease
And other serious genetic conditions
These conditions can occur even if there is no known family history.
Who can consider this test?
Optima NIPT Plus+ is suitable for:
- Most pregnant individuals from 9th week onwards
- All maternal ages and backgrounds
- Singleton and twin pregnancies
- IVF pregnancies for Optima NIPT Plus+ for self-egg
- Situations where both biological parents can provide samples
What are the benefits of Optima NIPT Plus+?
- More comprehensive screening in one test
- Includes inherited genetic conditions not covered by standard NIPT
- Early insight into a broader range of conditions
- Reduces the need for multiple separate genetic tests
- Supports more informed pregnancy planning
What are the limitations?
- It does not detect all genetic conditions
- It is not a diagnostic test
- Requires a paternal sample
- Not suitable for donor egg or surrogate pregnancies
What happens next?
- After receiving your results, your healthcare provider will explain what they mean and guide you on any recommended follow-up steps.
How accurate is the test?
Optima NIPT Plus+ is highly accurate for chromosomal conditions and provides a robust assessment of inherited genetic risks.
However:
- It is a screening test, not a diagnostic test
- High-risk results should be confirmed with further diagnostic testing
What do the results mean?
Results are reported as:
- Very Low Risk – Meaning the condition is highly unlikely
- Very High Risk – Meaning there is a high likelihood that the fetus is affected by the condition; diagnostic testing is recommended for confirmation
Your healthcare provider will guide you through the results and next steps.
A more comprehensive view of your baby’s health
Optima NIPT Plus+ is designed to provide broader genetic insight, helping you feel informed, prepared, and supported throughout your pregnancy.
Important Considerations
Optima NIPT Plus+ is a screening test, not a diagnostic test.
Any very 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.
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