Gestational Window
From 9th week
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Optima NIPT Clinician Information
Analytical Style
Targeted high-resolution
Sample Type
Maternal Blood
Core trisomy CLINICAL performance
>99%
Optima NIPT is a targeted, high-resolution non-invasive prenatal screening test designed to support routine clinical practice with reliable, clinically actionable results. Using targeted capture enrichment and high read-depth sequencing, the assay focuses on genomic regions of established clinical relevance, enabling accurate detection while minimizing noise and incidental findings. Validated from 9th week of gestation, the test is suitable for singleton and twin pregnancies, including IVF and complex clinical scenarios such as vanishing twin, IVF with donor eggs and surrogacy.
Expected results of Optima NIPT test?
Optima NIPT can be performed from the 9th week of gestation onwards, providing an early risk assessment for the chromosomal abnormalities included in the selected screening panel.
Understanding your results
Optima NIPT 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 means the chance that the pregnancy is affected by one of the conditions screened is greatly reduced. 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 CVS or amniocentesis, before clinical decisions are made.
In some cases, a report may be non-reportable or inconclusive. This can happen for technical or biological reasons, including low fetal fraction or other factors that affect interpretation. When this occurs, the healthcare provider may recommend a repeat blood draw, further evaluation, or discussion of alternative follow-up options.
Clinical Scope
Trisomy 21 (Down syndrome)
Trisomy 18 (Edwards syndrome)
Trisomy 13 (Patau syndrome)
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
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.
Definition of Performance Terms
Sensitivity
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
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.
Positive Predictive Value (PPV)
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.
Negative Predictive Value (NPV)
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.
Test Specifications for Dizygotic (Non-Identical) Twins
Optima NIPT 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.
Technology And Methodology
Optima NIPT utilizes a proprietary target capture enrichment technology with high-resolution genomic approach designed to deliver precise and clinically meaningful prenatal screening results.
Core technologies include:
Targeted capture enrichment of clinically relevant genomic regions. Focuses on sequencing specific chromosomes and loci associated with validated conditions, improving analytical precision while avoiding unnecessary genomic noise.
High read-depth next-generation sequencing (NGS). Enables enhanced detection sensitivity, particularly for low fetal fraction samples and subchromosomal abnormalities.
Advanced bioinformatics and algorithmic analysis. Proprietary pipelines integrate sequencing data with statistical modeling to accurately estimate fetal fraction, distinguish maternal and placental DNA contributions, and refine risk calculation.
This approach enables:
Design supports targeted detection of clinically relevant microdeletions down to approximately 1 Mb depending on region and assay performance.
Compared to whole-genome sequencing approaches, by focusing on targeted regions with established clinical significance.
Allowing more reliable interpretation in challenging samples, including low fetal fraction and multifetal pregnancies.
Including singleton, twin, and assisted reproduction scenarios.
Designed to support confident interpretation and patient counseling.
Performance Overview
Optima NIPT demonstrates high analytical and clinical performance, supported by extensive validation studies and real-world clinical use.
- >99% sensitivity and specificity for common trisomies (Trisomy 21, 18, and 13), enabling highly reliable detection and risk assessment.
- High accuracy for sex chromosome aneuploidies, with consistent performance across diverse patient populations.
- High-resolution microdeletion detection, targeting clinically relevant regions with validated performance for selected syndromes.
- High negative predictive value (NPV) across all screened conditions, providing strong reassurance in low-risk results.
- Optimized positive predictive value (PPV) through targeted sequencing and refined bioinformatic analysis.
Performance is supported by analytical validation studies, peer-reviewed publications, and large-scale real-world clinical data, reflecting consistent results across routine prenatal care settings.
Fetal Fraction And Sample Performance
Optima NIPT is designed to deliver reliable results across a wide range of biological and clinical conditions.
- Robust performance at low fetal fraction levels (~3%), supporting early gestational testing.
- Accurate and routinely reported fetal fraction measurement, enabling transparency and confidence in result interpretation.
- Low redraw and no-call rates, minimizing delays and improving patient experience.
- Enhanced signal discrimination, allowing reliable analysis even in complex or borderline samples.
This performance supports consistent and dependable results in challenging clinical scenarios, including:
- Twin pregnancies
- IVF pregnancies
- Increased maternal BMI
- Early gestational age samples
Indications For Use
- All pregnant patients, regardless of baseline risk. Appropriate for both average- and high-risk pregnancies, supporting universal prenatal screening approaches.
- Singleton and twin pregnancies. Validated performance in both single and twin gestations, with robust analytical methods to support interpretation.
- IVF pregnancies, including self-egg, donor egg, and surrogate pregnancies, with reliable performance across assisted reproduction scenarios.
- Vanishing twin pregnancies. May be considered with appropriate timing and clinical context, as residual DNA from a non-viable twin can influence results.
- Early gestation testing. From 9th week, supported by reliable performance at low fetal fraction levels
Limitations And Contraindications
Not suitable for:
- Triplet or higher-order multiple pregnancies
- Patients with recent blood transfusion (which may introduce non-maternal DNA)
- Organ or bone marrow transplant recipients
- Patients with active or prior malignancy, where circulating DNA may interfere with analysis
Additional considerations and limitations:
- Screening test only — not diagnostic.
Results indicate risk and should be confirmed with diagnostic testing when high risk is identified.
- Does not detect all genetic conditions.
The test targets specific chromosomal abnormalities and selected genomic regions with established clinical relevance
- Maternal and placental factors may influence results.
Including low fetal fraction, confined placental mosaicism, or biological variation.
- Vanishing twin and complex pregnancy dynamics
May impact interpretation and should be evaluated within the clinical context.
Reporting & Interpretation
Optima NIPT provides clear, structured, and clinically actionable reports designed to support confident interpretation and patient counseling.
Results are reported as:
- Very Low Risk
- Very High Risk
This standardized classification supports consistent clinical decision-making while minimizing ambiguity.
Each report includes:
- Fetal fraction measurement.
Quantitative assessment of fetal DNA contribution, supporting result reliability and interpretation - Condition-specific risk assessment.
Individualized evaluation for each screened condition, clearly presented. - Interpretation summary.
Concise clinical explanation of findings to guide provider review and patient discussion. - Guidance for follow-up.
Recommendations aligned with clinical best practices, including when to consider confirmatory diagnostic testing. - Test limitations and context.
Transparent reporting of factors that may influence results.
High-risk results should be confirmed with diagnostic testing (amniocentesis) before any clinical decisions are made
Workflow Integration
Optima NIPT is designed for efficient implementation within routine prenatal care workflows, minimizing operational complexity for clinics and laboratories.
- Sample type: Maternal blood sample
- Transport conditions: Ambient temperature (15–25°C), with stable sample handling
- Turnaround time: Typically, 5–7 working days from sample receipt
- Simple ordering and processing workflow.
Compatible with standard prenatal screening pathways and laboratory logistics.
Designed for clinical practice
- Minimal disruption to existing workflows
- Reliable processing with low repeat rates
- Clear reporting to support efficient counseling
- Suitable for use across diverse clinical settings
Clinical Value
- Optima NIPT is designed to support high-quality, evidence-based prenatal care, delivering reliable information that enhances clinical decision-making and patient management.
- Early and accurate risk assessment. Enables detection of common chromosomal conditions from ≥9 weeks gestation, supporting timely clinical planning and patient reassurance.
- Reduction in unnecessary invasive procedures.
High sensitivity and specificity help minimize false positives, reducing the need for procedures such as amniocentesis and associated patient anxiety. - Clear and confident patient counseling.
Structured, easy-to-interpret reports support effective communication between healthcare providers and patients. - Consistent performance across diverse clinical scenarios.
Including singleton, twin, and assisted reproduction pregnancies. - Alignment with international clinical guidelines.
Supports screening strategies consistent with recommendations from ACOG, ACMG, and ISPD, endorsing the use of NIPT as a primary screening option. - Improved patient experience.
Non-invasive testing, rapid turnaround time, and low redraw rates contribute to a smoother clinical pathway.
Differentiation
Optima NIPT is built on a philosophy of clinical relevance and interpretability, prioritizing meaningful results over expanded but less actionable genomic findings.
Unlike broad whole-genome screening approaches, Optima NIPT:
- Targets clinically validated genomic regions.
Focuses on conditions with established clinical significance and management pathways.
- Reduces incidental and non-actionable findings.
Avoids reporting findings of uncertain significance that may increase patient anxiety and complicate counseling.
- Enhances analytical precision through targeted sequencing
Improves signal-to-noise ratio and reduces false positive rates.
- Delivers clearer, more interpretable results.
Designed for straightforward clinical use and efficient integration into prenatal care workflows.
- Supports consistent performance across pregnancy types.
Including complex scenarios such as twin and IVF pregnancies.
Clinical Caution
NIPT results should always be interpreted in full clinical context.
Any very high risk finding requires diagnostic confirmation before definitive clinical decisions.
Complex maternal, placental, or multifetal biology may influence report interpretation.
Key Takeaway
Optima NIPT delivers high-confidence, clinically focused prenatal screening, combining advanced genomic technology with a targeted approach to provide accurate, reliable, and actionable insights.
By prioritizing clarity, consistency, and clinical relevance, it enables healthcare providers to support informed decision-making and deliver care aligned with modern standards of prenatal medicine.
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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