Optima NIPT is a new-generation non-invasive prenatal screening test (NIPT) that can be performed from the 10th week of pregnancy using a simple maternal blood sample. It analyzes cell-free fetal DNA circulating in the mother’s blood to assess the risk of selected chromosomal abnormalities and clinically significant microdeletion syndromes, providing reliable and clinically meaningful information for the pregnancy.
Safety
A non-invasive test with no risk for the mother or the baby.
Accuracy
More than 99% detection accuracy for the conditions tested.
Simplicity
Only a simple maternal blood sample is required.
Speed
Results available within 10 working days from sample receipt at the laboratory.
Scientific reliability
A non-invasive test with no risk for the mother or the baby.
During pregnancy, small fragments of fetal DNA are naturally released from the placenta and circulate in the mother’s bloodstream.
Optima NIPT analyzes this cell-free fetal DNA (cfDNA) using advanced targeted genomic technologies, without interfering with the pregnancy.
Blood sampling is performed at our diagnostic center or at home by appointment. Samples are then sent from our laboratory to the specialized laboratories of Optima Genetics for analysis.
Results are typically available within 10 working days from sample receipt.
Optima NIPT is suitable for pregnant women from the 10th week of pregnancy and can be performed in both low-risk and high-risk pregnancies. It can also be performed in:
• singleton pregnancies
• twin pregnancies
• vanishing twin pregnancies
• IVF pregnancies, including self-egg, donor egg and surrogate pregnancies
In clinical practice, prenatal genetic screening is often recommended in specific risk situations (e.g. women over the age of 35 or in cases of family history), while it can be performed in any pregnancy, according to medical guidance.
Autosomal
Aneuploidies
• Down syndrome / Trisomy 21
• Edwards syndrome / Trisomy 18
• Patau syndrome / Trisomy 13
Sex Chromosome Aneuploidies
• Turner syndrome (45,X)
• Triple X syndrome (47,XXX) \n• Klinefelter syndrome (47,XXY)
• Jacobs syndrome (47,XYY) \n• XXYY syndrome
7 Microdeletions
• DiGeorge syndrome (22q11.2)
• 1p36 deletion syndrome
• Smith–Magenis syndrome (17p11.2)
• Wolf–Hirschhorn syndrome (4p16.3)
• Prader–Willi syndrome
• Angelman syndrome
• Cri-du-chat syndrome
| KARYOTYPE | NUMBER | FOLLOW-UP | CONFIRMED | SPECIFICITY / SENSITIVITY | NPV / PPV |
|---|---|---|---|---|---|
| Normal | 12211 | 12211 | 12211 | >99.9% | 100% |
| Trisomy 21 | 144 | 45 | 45 | 100% | 100% |
| Trisomy 18 | 30 | 11 | 11 | 100% | 100% |
| Trisomy 13 | 16 | 7 | 5 | 100% | 71% |
| SCAs† | 45 | 16 | 13 | 100% | 81% |
Blood sampling is performed at our diagnostic center or at home by appointment.
Samples are sent from our laboratory to Optima Genetics for analysis.
Results are delivered to the healthcare provider and/or the patient within 10 working days
Optima NIPT uses advanced Target Capture Sequencing technology to analyze selected genomic regions associated with aneuploidies. This targeted approach enhances the accuracy and reliability of the test.
Hundreds of repeated analyses are performed on selected DNA regions, increasing statistical precision and improving the sensitivity and specificity of the test.
Optima NIPT uses advanced bioinformatics algorithms for accurate fetal fraction measurement, strengthening the reliability of the results.
TACS technology enables the analysis of DNA fragment size, improving discrimination between normal and abnormal samples and increasing detection accuracy.
The tests are integrated into first-trimester prenatal screening, in combination with ultrasound and biochemical screening.
NIPT is recognized by ACMG, ACOG and ISPD as the most accurate prenatal screening method for fetal aneuploidies. ACMG recommends screening for trisomies 21, 18 and 13 in all singleton and twin pregnancies, for sex chromosome aneuploidies in singleton pregnancies, and for 22q11.2 microdeletion syndrome in all pregnancies.
NIPT may reduce the need for invasive diagnostic procedures for the most common autosomal aneuploidies and increase the prenatal detection rate of common sex chromosome aneuploidies (SCAs) and microdeletion syndromes, which are often not associated with maternal age and may not be accompanied by characteristic ultrasound or biochemical findings.
Clinical Performance &
Technology behind Optima NIPT
Optima NIPT is based on Target Capture Enrichment technology, allowing:
• repeated analysis of clinically relevant genomic regions
• reliable fetal fraction measurement
• high analytical accuracy and reproducibility
The analytical and clinical performance of Optima NIPT and Optima NIPT Plus+ has been evaluated through published validation studies, demonstrating high sensitivity, specificity and reproducibility for the most common trisomies, sex chromosome aneuploidies and clinically significant microdeletions.
The test maintains high analytical performance in samples with fetal fraction equal to or greater than the validated threshold of 3%.
| Sensitivity | Specificity | Positive Predictive Value (PPV) | Negative Predictive Value (NPV) | |
|---|---|---|---|---|
| Trisomy 21 | 99.12% (95.44–99.98%) | 99.99% (99.97–99.99%) | 96.60% (91.50–99.06%) | 99.99% (99.99–100.00%) |
| Trisomy 18 | 97.44% (86.52–99.93%) | 99.99% (99.98–99.99%) | 92.68% (80.08–98.46%) | 99.99% (99.99–100.00%) |
| Trisomy 13 | 100.00% (71.51–100.00%) | 99.99% (99.99–100.00%) | 86.67% (59.54–98.34%) | 100.00% (99.99–100.00%) |
| Sex chromosome aneuploidies X, Y | 91.30% (71.96–98.93%) | 99.98% (99.97–99.99%) | 84.00% (63.92–95.46%) | 99.99% (99.99–100.00%) |
| DiGeorge syndrome | 100.00% (69.15–100.00%) | 99.99% (99.98–100.00%) | 88.89% (51.75–99.72%) | 100.00% (99.99–100.00%) |
Clinical Notes
* Clinical performance evaluation for 1p36 deletion syndrome, Smith–Magenis syndrome (17p11.2), Wolf–Hirschhorn syndrome (4p16.3), Prader–Willi / Angelman syndromes (15q11.2-q13) and Cri-du-chat syndrome (5p-) is not feasible due to limited data, as a result of the low prevalence of these conditions.
** Fetal risk assessment for the genetic variants associated with the 100 monogenic diseases is performed indirectly through parental genotypes. Validation studies show 100% sensitivity (95% CI: 95.8–100%) and 100% specificity (95% CI: 99.3–100%) for the detection of parental allele status.
In addition, validation data confirm that a very high-risk result for a monogenic disease corresponds to a 25% probability that the fetus is affected for autosomal recessive conditions, and a 50% probability that a male fetus is affected for X-linked conditions.
Our Partner in Prenatal Genetic Screening
Science Labs Genotypos offers Optima NIPT and Optima NIPT Plus+ in collaboration with Optima Genetics, our official partner in Non-Invasive Prenatal genetic Testing.
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).
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.
Medicover Genetics. Optima NIPT and Optima NIPT Plus+ NIPT clinical information and previous commercial test material. Medicover Genetics official website.
Optima Genetics. Optima NIPT and Optima NIPT Plus+ official test information, patient information, clinician information and FAQ. Optima Genetics official website.