Gestational Window
From 9th week
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Optima NIPT Plus+ Clinician Information
Sample Type
Maternal Blood & Paternal Cheek Swab
Analytical Style
Targeted high-resolution
Core trisomy CLINICAL performance
>99%
Optima NIPT Plus+ is an expanded, clinically focused non-invasive prenatal screening test that integrates chromosomal analysis and microdeletions with monogenic disease risk assessment in a single workflow. By combining analysis of maternal cell-free DNA with paternal genomic data, the test enables comprehensive evaluation of both chromosomal abnormalities and microdeletions syndromes with inherited genetic conditions. Validated from 9th week of gestation, it is designed to support advanced prenatal screening within routine clinical practice.
Expected results of Optima NIPT Plus+ test?
Optima NIPT Plus+ can be performed from the 9th week of pregnancy onwards, providing an early risk assessment for the chromosomal and monogenic conditions included in the selected screening panel.
Understanding your results
Optima NIPT Plus+ provides a clear, structured report that indicates 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.
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.
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.
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 Plus+ 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 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.
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
1p36 deletion syndrome
Wolf–Hirschhorn syndrome
Smith–Magenis syndrome
Cri-du-chat syndrome
Prader–Willi syndrome
Angelman syndrome
Screening for 100 inherited genetic disorders
Includes conditions such as cystic fibrosis, hemoglobinopathies, and metabolic disorders
Covers autosomal recessive and selected X-linked conditions
Technology & Methodology
Optima NIPT Plus+ 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:
focuses on sequencing specific chromosomes and loci associated with validated conditions, improving analytical precision while avoiding unnecessary genomic noise
Enables enhanced detection sensitivity, particularly for low fetal fraction samples and sub-chromosomal abnormalities
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:
Including clinically relevant microdeletions down to approximately 1 Mb in size.
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.
Clinical Performance
Optima NIPT Plus+ 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 & Sample Performance
Optima NIPT Plus+ 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
Limitations & Contraindications
While Optima NIPT Plus+ provides highly accurate screening, certain clinical conditions and biological factors may affect test performance or interpretation.
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 Plus+ 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.
Workflow Integration
Optima NIPT Plus+ is designed for efficient implementation within routine prenatal care workflows, minimizing operational complexity for clinics and laboratories.
- Sample type: One 10 mL maternal blood sample (cfDNA tube) and a paternal buccal swab 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 Plus+ 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.
Indications for Use
Optima NIPT Plus+ is designed for use in routine prenatal care and is suitable for a broad range of pregnancy types and clinical scenarios.
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, 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
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.
For Optima NIPT Plus+, reports additionally include monogenic risk assessment, integrating maternal and paternal genetic data into a unified, easy-to-interpret format.
Differentiation
Optima NIPT Plus+ 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 Plus+:
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
Key Takeaway
Optima NIPT Plus+ 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.
Important Considerations
Optima NIPT Plus+ 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.
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