Optima NIPT FAQs

Optima NIPT is a non-invasive prenatal screening test that analyzes cell-free fetal DNA (cfDNA) in maternal blood to assess the risk in the fetus for chromosomal abnormalities 13, 18, 21, X, Y, and the seven microdeletion syndromes DiGeorge, Smith Magenis, 1p36 deletion, Wolf-Hirschhorn, Prader Willi, Angelman and Cri Du Chat. It provides early, accurate, and clinically meaningful information to support prenatal care decisions.

Optima NIPT Plus+ is an advanced non-invasive prenatal screening test that analyzes cell-free fetal DNA (cfDNA) in maternal blood to assess the risk in the fetus for chromosomal abnormalities 13, 18, 21, X, Y, and the seven microdeletion syndromes DiGeorge, Smith Magenis, 1p36 deletion, Wolf-Hirschhorn, Prader Willi, Angelman and Cri Du Chat, plus risk assessment for 100 monogenic diseases. It provides a more comprehensive evaluation of fetal genetic risk in a single test.

Optima NIPT: Screens for chromosomal abnormalities and selected microdeletions

Optima NIPT Plus+: Includes all of the above plus screening for inherited monogenic diseases.

Optima NIPT Plus+ offers a broader and more comprehensive genetic assessment.

Both tests can be performed from the 9th week of pregnancy onwards.

Yes. Both tests are non-invasive and require only a blood sample from the mother and a cheek swab from the biological father for Optima NIPT Plus+.

No. Both are screening tests, not diagnostic tests.

High-risk results must always be confirmed with diagnostic procedures such as amniocentesis.

Trisomy 21 (Down syndrome)

Trisomy 18 (Edwards syndrome)

Trisomy 13 (Patau syndrome)

Sex chromosome (X, Y) aneuploidies

Seven clinically significant microdeletions, namely DiGeorge, Smith Magenis, 1p36 deletion, Wolf-Hirschhorn, Prader Willi, Angelman and Cri Du Chat.

In addition to all Optima NIPT conditions, Optima NIPT Plus+ screens for:

Very common pathogenic variants for 100 inherited monogenic diseases

Conditions such as cystic fibrosis, β-thalassemia, Tay-Sachs disease, and others

Disorders affecting multiple systems (neurological, metabolic, cardiac, etc.)

Monogenic diseases are caused by changes in a single gene.

They are often inherited and can lead to serious, early-onset conditions, even in families with no prior history.

Yes, fetal sex determination (via Y chromosome detection) is optional.

Optima NIPT: One maternal blood sample

Optima NIPT Plus+: One maternal blood sample and one cheek (buccal) swab sample from the biological father

It allows accurate assessment of inherited genetic risk by analyzing both maternal and paternal DNA and calculating the likelihood that the fetus has inherited specific conditions.

Singleton pregnancies

Twin pregnancies

Vanishing twin pregnancies

IVF pregnancies (including self-egg used, donor egg used, surrogate)

Singleton pregnancies

Twin pregnancies

Pregnancies where both biological parents can provide samples

IVF pregnancies (self-egg only)

Not suitable for patients with:

Recent blood transfusion

Organ or bone marrow transplant

Active or past malignancy

Additionally for Optima NIPT Plus+:

Not suitable for donor egg or surrogate pregnancies

Both tests demonstrate very high sensitivity and specificity for common trisomies, with strong clinical validation.

Fetal fraction is the proportion of fetal DNA in maternal blood and is essential for reliable results. It is measured and reported in every test.

Optima NIPT Plus+ uses a combined maternal and paternal analysis model, providing robust and clinically meaningful risk assessment for inherited conditions.

Results are typically available within 5–7 working days.

Very Low Risk – Reduced likelihood

Very High Risk – Increased likelihood; confirmatory testing recommended

Further diagnostic testing is required, and results should be discussed with a healthcare professional.

It complements ultrasound and biochemical screening by providing:

Earlier detection

Higher accuracy

Reduced need for invasive procedures

Optima NIPT Plus+ enables:

Detection of inherited genetic risks not identified by standard NIPT

More comprehensive prenatal screening in a single test

Reduced need for multiple separate genetic tests

No. They are screening tools. Diagnostic confirmation is required for high-risk results.

No. They focus on clinically relevant and validated conditions only.

No special preparation is required.