What is
Optima NIPT Plus+

Optima NIPT Plus+ is a new-generation non-invasive prenatal test (NIPT) designed to offer expecting parents a broader and more complete view of pregnancy from an early stage. With a single test, Optima NIPT Plus+ combines screening for fetal aneuploidies, selected microdeletions, and the risk of 100 monogenic (single-gene) conditions. These genetic conditions are known to have a moderate to severe impact on health and quality of life, and early awareness can support thoughtful planning and informed choices.

The test requires a simple blood sample from the mother and a buccal (cheek) swab from the biological father. During pregnancy, small fragments of fetal DNA naturally circulate in the mother’s blood. This cell-free DNA is analyzed together with the father’s DNA using next-generation sequencing (NGS) and advanced bioinformatics to assess genetic risk accurately and safely.

Optima NIPT Plus+ can be performed from the 10th week of pregnancy, is validated for singleton and twin pregnancies, suitable for IVF pregnancies, and can be offered to women of all ages.

Results are shared with the clinician, who discusses them with the parents and provides appropriate guidance, ensuring that every step is taken with care, clarity, and support.

The advantage of knowing more.

Optima NIPT Plus+ goes beyond standard prenatal screening.
In a single test, it combines the detection of aneuploidies and microdeletions with risk assessment for 100 monogenic diseases, providing a more complete view of pregnancy.

The values behind the test

Safety

A non-invasive test with no risk for the mother or the baby.

Accuracy

More than 99% detection rate* for the genetic conditions covered by Optima NIPT Plus+.

Comprehensiveness

A single test that screens simultaneously for aneuploidies, microdeletions and monogenic disease risk.

Ease

Requires only a maternal blood sample and a simple buccal swab from the biological father.

Speed

Results available within 10 working days from sample receipt at the laboratory.

Clinical clarity

Clear result interpretation (very low risk / very high risk), including accurate fetal fraction reporting, in line with international guidelines.

How
Optima NIPT Plus+
works?

Optima NIPT Plus+ combines genetic information from both biological parents to support a comprehensive prenatal risk assessment. A blood sample from the expectant mother contains cell-free DNA (cfDNA) originating from both the mother and the fetus. At the same time, a simple cheek/buccal swab from the biological father provides paternal genomic DNA.
• Fetal cfDNA is analyzed to screen for aneuploidies and microdeletion syndromes.
• Maternal cfDNA, together with paternal DNA, is analyzed to assess the risk of inherited monogenic diseases.
Using targeted capture enrichment, high-depth DNA sequencing and advanced bioinformatics analysis, Optima NIPT Plus+ assesses the risk of the fetus being affected by selected:
• chromosomal abnormalities,
• microdeletions or
• inherited monogenic conditions.

The results are sent to the clinician, who discusses them with the parents and provides appropriate genetic guidance.

Who can
take the
Optima NIPT Plus+
test?

Optima NIPT Plus+ is suitable for pregnant women of all ages, as it screens for genetic conditions that are not associated with maternal age. It can be performed in any pregnancy from the 10th week and is suitable for pregnancies where samples from both biological parents can be provided. It can be performed in:
• singleton pregnancies
• twin pregnancies
• pregnancies conceived naturally
• IVF pregnancies with self-eggs

Because the test uses genetic information from both biological parents for monogenic disease risk assessment, it is not suitable for donor egg, donor sperm or surrogate pregnancies. It should always be performed in consultation with the healthcare provider.

What does Optima NIPT Plus+ screen for
Optima NIPT Plus+ is a comprehensive non-invasive prenatal test that screens for genetic conditions that may impact health or quality of life. Specifically, Optima NIPT Plus+ tests for:

Autosomal
Aneuploidies

• Down syndrome (Trisomy 21)
• Edwards syndrome (Trisomy 18)
• Patau syndrome (Trisomy 13)

Sex Chromosome Aneuploidies (for singleton pregnancies)

• Turner syndrome (45,X)
• Triple X syndrome (47,XXX)
• Klinefelter syndrome (47,XXY)
• Jacobs syndrome (47,XYY)
• XXYY syndrome (48,XXYY)

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 \n\n

Monogenic
Disorders

• Screen for more than 100 single-gene conditions based on genetic variants from both

Fetal sex determination can optionally be performed through Y chromosome detection.

Clinical Utility –
Optima NIPT Plus+

The tests are integrated into first-trimester prenatal screening, in combination with ultrasound and biochemical screening.

  1. 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.

  2. 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.

  3. Optima NIPT Plus+ further expands the possibilities of prenatal screening through risk assessment for genetic variants associated with 100 autosomal recessive and X-linked monogenic diseases. ACMG highlights the importance of assessing the risk for monogenic diseases, many of which occur in families with no previous family history of the condition.

Beyond standard NIPT:100 Inherited Monogenic Conditions

Optima NIPT Plus+ expands prenatal screening beyond chromosomal abnormalities and microdeletions, by assessing the risk for 100 inherited monogenic diseases. This additional screening covers autosomal recessive and selected X-linked conditions, including clinically important disorders such as cystic fibrosis, hemoglobinopathies and metabolic diseases.

Cystic fibrosis

Cystic fibrosis is an inherited genetic condition that mainly affects the lungs and digestive system. It is caused by changes in a gene involved in salt and fluid balance in the body, leading to the production of thick, sticky mucus.

This may result in chronic lung infections, breathing difficulties and problems with nutrient absorption. The severity of cystic fibrosis can vary, but it usually requires lifelong medical care. Advances in treatment have significantly improved quality of life and life expectancy.

β-thalassemia

β-thalassemia is an inherited blood disorder that affects the body’s ability to produce hemoglobin, the protein in red blood cells that carries oxygen.

This can lead to anemia, fatigue and other complications. The condition can range from mild to severe. In more severe cases, regular blood transfusions and ongoing medical monitoring may be required. With appropriate care, many individuals can manage the condition and maintain a good quality of life.

Tay-Sachs disease

Tay-Sachs disease is a rare inherited neurological condition caused by the absence or reduced activity of an enzyme needed to break down certain fatty substances in the brain.

As these substances accumulate, they can cause progressive damage to the nervous system. The most severe form appears in early infancy and is associated with developmental regression, loss of motor skills and reduced life expectancy. Early identification is important for family planning and supportive care.

Full Clinical Table of the 100 monogenic disorders screened by Optima NIPT Plus+.
No. Disease (EN) Gene Classification Codes Classification Severity
1 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency HMGCL MET Metabolic Severe
2 3-Methylcrotonyl-CoA Carboxylase Deficiency 1 MCCC1 MET Metabolic Severe
3 3-Methylcrotonyl-CoA Carboxylase Deficiency 2 MCCC2 MET Metabolic Severe
4 Abetalipoproteinemia MTTP DIG, NEUR, OPTH, HEM Digestive; Neurological; Ophthalmological; Hematological Severe
5 Acyl-CoA Oxidase I Deficiency ACOX1 NEUR Neurological Very severe
6 Aicardi-Goutières Syndrome SAMHD1 NEUR Neurological Severe
7 Alport Syndrome, X-Linked COL4A5 REN, OPTH, HEAR Renal; Ophthalmological; Hearing Severe
8 Alström Syndrome ALMS1 OPTH, HEAR, REN, CARD Ophthalmological; Hearing; Renal; Cardiac Severe
9 Andermann Syndrome SLC12A6 MUSC, NEUR Muscular; Neurological Severe
10 Aromatase Deficiency CYP19A1 SD Sexual development Moderate
11 Arthrogryposis Mental Retardation Seizures SLC35A3 MET Metabolic Severe
12 Asparagine Synthetase Deficiency ASNS NEUR Neurological Very severe
13 Aspartylglycosaminuria AGA MET, NEUR Metabolic; Neurological Severe
14 Autosomal Recessive Polycystic Kidney Disease PKHD1 REN Renal Severe
15 Bardet-Biedl Syndrome (BBS1-related) BBS1 OPTH, MET, END Ophthalmological; Metabolic; Endocrine Severe
16 Bardet Biedl Syndrome (BBS12-related) BBS12 OPTH Ophthalmological Severe
17 Beta Thalassemia HBB HEM Hematological Very severe
18 Biotinidase Deficiency BTD MET Metabolic Severe
19 Canavan Disease ASPA NEUR Neurological Severe
20 Carpenter Syndrome RAB23 SKEL Skeletal Severe
21 Choreacanthocytosis VPS13A NEUR Neurological Moderate
22 Choroideremia, X-Linked CHM OPTH Ophthalmological Severe
23 Citrin Deficiency SLC25A13 MET Metabolic Moderate
24 Combined Oxidative Phosphorylation Deficiency 3 TSFM NEUR, MET, CARD Neurological; Metabolic; Cardiac Very severe
25 Congenital Disorder of Glycosylation, Type 1A (PMM2-related) PMM2 MET Metabolic Severe
26 Congenital Neutropenia (HAX1-related) HAX1 IMM Immunological Severe
27 Crigler Najjar Syndrome, Type I UGT1A1 MET Metabolic Very severe
28 Cystic Fibrosis * CFTR RESP, DIG Respiratory; Digestive Very severe
29 Factor XI Deficiency F11 HEM Hematological Severe
30 Familial Dysautonomia ELP1 NEUR Neurological Moderate
31 Fanconi Anemia, Type C FANCC IMM Immunological Severe
32 Fanconi Anemia, Type G FANCG HEM Hematological Severe
33 Gaucher Disease GBA NEUR, HEP, CARD Neurological; Hepatic; Cardiac Severe
34 Glutaric Acidemia, Type 2A ETFA MET Metabolic Moderate
35 Glycine Encephalopathy (GLDC-related) GLDC MET Metabolic Very severe
36 Glycogen Storage Disease, Type 1A G6PC MET Metabolic Moderate
37 Glycogen Storage Disease, Type 1B SLC37A4 MET Metabolic Moderate
38 Glycogen Storage Disease, Type 3 AGL MET Metabolic Severe
39 Glycogen Storage Disease, Type 7 PFKM MET Metabolic Severe
40 GRACILE Syndrome BCS1L MET Metabolic Very severe
41 Hereditary Fructose Intolerance ALDOB MET Metabolic Moderate
42 Homocystinuria, Type cblE MTRR MET Metabolic Severe
43 Hydrolethalus Syndrome HYLS1 NEUR, CARD Neurological; Cardiac Very severe
44 Inclusion Body Myopathy, Type 2 GNE MUSC Muscular Moderate
45 Isovaleric Acidemia IVD MET Metabolic Severe
46 Joubert Syndrome, Type 2 TMEM216 NEUR Neurological Severe
47 Junctional Epidermolysis Bullosa, Herlitz Type LAMC2 SKIN Skin Severe
48 Lamellar Ichthyosis, Type 1 TGM1 MET Metabolic Moderate
49 Leber Congenital Amaurosis (LCA5-related) LCA5 OPTH Ophthalmological Severe
50 Leigh Syndrome, French-Canadian Type LRPPRC NEUR, MUSC Neurological; Muscular Severe
51 Leukoencephalopathy with Vanishing White Matter EIF2B5 NEUR Neurological Severe
52 Leydig Cell Hypoplasia [Luteinizing Hormone Resistance] LHCGR SD Sexual development Moderate
53 Limb Girdle Muscular Dystrophy, Type 2E SGCB MUSC Muscular Severe
54 Lipoamide Dehydrogenase Deficiency (Maple Syrup Urine Disease, Type 3) DLD MET Metabolic Severe
55 Lipoprotein Lipase Deficiency LPL MET Metabolic Moderate
56 Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency HADHA MET Metabolic Severe
57 Lysinuric Protein Intolerance SLC7A7 MET Metabolic Severe
58 Maple Syrup Urine Disease, Type 1B BCKDHB MET Metabolic Severe
59 Methylmalonic Acidemia (MMAA-related) MMAA MET Metabolic Very severe
60 Methylmalonic Aciduria, Type mut(0) MMUT MET Metabolic Severe
61 Methylmalonic Aciduria and Homocystinuria, Type cblC MMACHC MET Metabolic Severe
62 Methylmalonic Aciduria and Homocystinuria, Type cblD MMADHC MET Metabolic Severe
63 Mucopolysaccharidosis, Type II [Hunter Syndrome], X-Linked IDS RESP, CARD Respiratory; Cardiac Very severe
64 Mucopolysaccharidosis, Type IIIC [Sanfilippo C] HGSNAT MET, NEUR, OPTH Metabolic; Neurological; Ophthalmological Severe
65 Multiple Sulfatase Deficiency SUMF1 MET Metabolic Very severe
66 Myotubular Myopathy, X-Linked MTM1 MUSC Muscular Severe
67 Navajo Neurohepatopathy [MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome] MPV17 NEUR Neurological Severe
68 Neuronal Ceroid Lipofuscinosis (CLN8-related) CLN8 NEUR Neurological Very severe
69 Neuronal Ceroid Lipofuscinosis (MFSD8-related) MFSD8 NEUR Neurological Very severe
70 Neuronal Ceroid Lipofuscinosis (TPP1-related) TPP1 NEUR Neurological Very severe
71 Nijmegen Breakage Syndrome NBN NEUR Neurological Severe
72 Omenn Syndrome (RAG2-related) RAG2 IMM Immunological Very severe
73 Ornithine Aminotransferase Deficiency OAT OPTH Ophthalmological Moderate
74 Ornithine Translocase Deficiency [Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome] SLC25A15 MET Metabolic Severe
75 Pendred Syndrome SLC26A4 HEAR, END Hearing; Endocrine Moderate
76 Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX1-related) PEX1 MET Metabolic Severe
77 Peroxisome Biogenesis Disorders Zellweger Syndrome Spectrum (PEX2-related) PEX2 MET Metabolic Severe
78 Phenylalanine Hydroxylase Deficiency (Phenylketonuria) PAH MET Metabolic Very severe
79 Pontocerebellar Hypoplasia, Type 1A VRK1 NEUR, MUSC Neurological; Muscular Very severe
80 Pontocerebellar Hypoplasia, Type 2D SEPSECS NEUR Neurological Very severe
81 Pontocerebellar Hypoplasia, Type 2E VPS53 NEUR Neurological Very severe
82 Primary Ciliary Dyskinesia (DNAH5-related) DNAH5 RESP, INF Respiratory; Infertility Moderate
83 Primary Ciliary Dyskinesia (DNAI1-related) DNAI1 RESP, INF Respiratory; Infertility Moderate
84 Primary Hyperoxaluria, Type 3 HOGA1 REN, MET Renal; Metabolic Moderate
85 Pycnodysostosis CTSK MET Metabolic Severe
86 Pyruvate Dehydrogenase Deficiency (PDHB-Related) PDHB NEUR, MET Neurological; Metabolic Severe
87 Retinal Dystrophy (RLBP1-related) [Bothnia Retinal Dystrophy] RLBP1 OPTH Ophthalmological Severe
88 Retinitis Pigmentosa 25 (EYS-related) EYS OPTH Ophthalmological Severe
89 Retinitis Pigmentosa 59 (DHDDS-related) DHDDS OPTH Ophthalmological Severe
90 Sanfilippo Syndrome, Type D [Mucopolysaccharidosis IIID] GNS MET Metabolic Severe
91 Severe Combined Immunodeficiency, Type Athabaskan DCLRE1C IMM Immunological Very severe
92 Severe Combined Immunodeficiency, X-Linked IL2RG IMM Immunological Very severe
93 Sickle-Cell Disease HBB HEM Hematological Very severe
94 Sjögren-Larsson Syndrome ALDH3A2 MET Metabolic Severe
95 Steroid-Resistant Nephrotic Syndrome NPHS2 REN Renal Severe
96 Stuve-Wiedemann Syndrome LIFR SKEL Skeletal Severe
97 Tay-Sachs Disease HEXA MET Metabolic Very severe
98 Usher Syndrome, Type 1F PCDH15 HEAR Hearing Moderate
99 Usher Syndrome, Type 3 CLRN1 HEAR, OPTH Hearing; Ophthalmological Moderate
100 Wolman Disease LIPA MET, HEP Metabolic; Hepatic Severe

Clinical Performance
& Technology
behind Optima NIPT Plus+

Optima NIPT Plus+ is built on advanced genomic analysis of cell-free DNA, combining Targeted Enrichment and Next-Generation Sequencing (NGS) with proprietary bioinformatics tools.

This approach allows Optima NIPT Plus+ to accurately assess different categories of genetic conditions that may impact a child’s health or quality of life, offering a comprehensive view through a single, non-invasive test.

The analysis is structured into clear thematic categories, making it easier to understand what is being screened and how each category contributes to the overall evaluation of the pregnancy.

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%.

Clinical Performance for Trisomies 21, 18 and 13
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.

Optima NIPT Plus+
screening table

Below you can explore the detailed Optima NIPT Plus+ screening table, presenting the categories and conditions included in the test.

AUTOSOMAL ANEUPLOIDIES
Down syndrome (Trisomy 21)
Three copies of chromosome 21
Edwards syndrome (Trisomy 18)
Three copies of chromosome 18
Patau syndrome (Trisomy 13)
Three copies of chromosome 13
SEX CHROMOSOME ANEUPLOIDIES (SCAs)
Turner syndrome (45,X)
Presence of a single X chromosome
Triple X syndrome (47,XXX)
Presence of three X chromosomes
Klinefelter syndrome (47,XXY)
Two X chromosomes and one Y chromosome
Jacobs syndrome (47,XYY)
One X chromosome and two Y chromosomes
XXYY syndrome
Extra copies of X and Y chromosomes
MICRODELETIONS
DiGeorge syndrome (22q11.2)
Deletion of part of chromosome 22
1p36 deletion syndrome
Deletion of part of chromosome 1
Smith–Magenis syndrome (17p11.2)
Deletion of part of chromosome 17
Wolf–Hirschhorn syndrome (4p16.3)
Deletion of part of chromosome 4
Prader–Willi syndrome (15q11.2-q13)
Deletion involving the 15q11.2-q13 chromosomal region.
Angelman syndrome (15q11.2-q13)
Deletion involving the 15q11.2-q13 chromosomal region.
Cri-du-chat syndrome (5p-)
Deletion of part of chromosome 5.
MONOGENIC DISEASES
100 single-gene disorders
Screening for 100 inherited genetic disorders, including conditions such as cystic fibrosis, hemoglobinopathies and metabolic disorders. The panel covers autosomal recessive and selected X-linked conditions. Analyzed in the biological parents

What will the Optima NIPT Plus+
test results show?

The Optima NIPT Plus+ report is sent to your healthcare provider and is designed to offer clear, reassuring information during pregnancy.
In simple terms, it shows whether there is a reduced or increased risk for certain genetic conditions included in the test.

  1. Very low risk

    Indicates that the likelihood of your baby being affected by one of the tested conditions is very low.
    In most cases, pregnancy continues with routine prenatal care.

  2. Very high risk

    Indicates an increased likelihood of one of the tested conditions.
    Your healthcare provider will explain the result and guide you through the next steps, which may include further testing or genetic counseling.

    Optima NIPT Plus+ is a screening test, not a diagnostic test.
    When needed, results are confirmed with additional examinations, always in collaboration with your healthcare provider.

  3. What is fetal fraction?

    The report includes the measurement of fetal DNA circulating in the mother’s blood.
    Accurate fetal fraction measurement is essential for reliable results and is calculated using validated scientific methods.

  4. A report made to support you

    The Optima NIPT Plus+ report provides:
    • clear results
    • easy-to-understand interpretation
    • guidance for next steps
    helping you and your healthcare provider make informed and confident decisions.

How the test
is performed?

The test can be done from the 10th week of pregnancy.
1) A blood sample is collected from the pregnant woman.
2) A buccal swab is collected from the biological father.
3) Samples are sent for analysis to the specialized laboratories.
4) Results are released to the clinician via a secure system, and then discussed with the parents with appropriate counseling.
Typical turnaround time: 10 working days from sample receipt.

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+ 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.