What is
prenatal
screening?
Prenatal screening includes tests performed during pregnancy to assess the possibility of certain genetic or chromosomal conditions affecting the fetus before birth.
What is
These tests are divided into non-invasive screening tests and diagnostic tests, which are used together as part of prenatal care. Non-invasive tests, such as non-invasive prenatal testing (NIPT), are safe for both the mother and the baby and can be offered to all pregnancies. They provide information on whether there is an increased likelihood of specific conditions.
When screening results indicate a higher risk, diagnostic testing may be recommended for confirmation.
Diagnostic procedures are invasive and carry a small but real risk of complications, which is why the accuracy
of non-invasive screening is particularly important.
Choose the right test for you
With Optima NIPT and Optima NIPT Plus+, you have the option to choose a reliable and safe non-invasive prenatal test (NIPT), with no risk of miscarriage. Both tests are performed using a simple maternal blood sample and can be done from the 10th week of pregnancy.
In these tests, cell-free fetal DNA from the mother’s blood is analyzed to screen for chromosomal abnormalities and selected genetic changes, including aneuploidies and microdeletions. In addition, Optima NIPT Plus+ includes screening for selected single-gene (monogenic) conditions in the biological parents.
Both tests can be offered to all pregnant women, regardless of age or risk category. The results support informed decision-making regarding pregnancy care and clinical management, in collaboration with the healthcare provider.
Questions
or more information?
Find the frequently asked questions and answers to them below
Frequently Asked Questions
What is NIPT?
Non-invasive prenatal testing analyzes cell-free fetal DNA in the mother’s blood to assess the likelihood of certain genetic conditions in the fetus.
Why choose NIPT?
NIPT is considered the most accurate screening method for common fetal chromosomal conditions and can reduce the need for invasive diagnostic procedures, which carry a small miscarriage risk.
What conditions does Optima NIPT screen for?
NIPT can screen for:
- Trisomy 21 (Down syndrome)
- Trisomy 18 (Edwards syndrome)
- Trisomy 13 (Patau syndrome)
- Sex chromosome (X,Y) aneuploidies
- 7 clinically significant microdeletions, namely DiGeorge, Smith Magenis, 1p36 deletion, Wolf-Hirschhorn, Prader Willi, Angelman and Cri Du Chat.
What additional conditions does Optima NIPT Plus+ screen for?
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.)
What is the difference between Optima NIPT and Optima NIPT Plus+?
Optima NIPT: Screens for chromosomal abnormalities and selected microdeletions.
Optima NIPT Plus+: Includes all of the above plus screening for inherited monogenic diseases and offers a broader and more comprehensive genetic assessment.
What are monogenic diseases?
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.
Does the test determine fetal sex?
Yes, fetal sex determination (via Y chromosome detection) is optional.
What does screening mean?
Both Optima NIPT tests are screening tests, not diagnostic tests. Screening estimates risk; it is not diagnostic. If a higher risk is indicated, follow-up diagnostic testing may be recommended.
When can it be performed?
NIPT can be offered from the 10th week of pregnancy onwards.
Are the tests safe?
Yes. Both tests are non-invasive and poses no risk of miscarriage. Require only a blood sample from the mother and a cheek swab from the biological father for Optima NIPT Plus+.
How accurate are the tests?
Optima NIPT and Optima NIPT Plus+ demonstrate high sensitivity and specificity for the most common trisomies, supported by strong clinical and analytical validation.
The accuracy of the test depends on the condition being screened for, while any high-risk result should be confirmed with a diagnostic test, according to your doctor’s guidance.
Who can take Optima NIPT?
- Singleton pregnancies
- Twin pregnancies
- Vanishing twin pregnancies
- IVF pregnancies (including self-egg used, donor egg used, surrogate)
Who can take Optima NIPT Plus+?
- Singleton pregnancies
- Twin pregnancies
- Pregnancies where both biological parents can provide samples
- IVF pregnancies (self-egg only)
Who should not take these tests?
Optima NIPT & Optima NIPT Plus+ are not suitable for people 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
What is fetal fraction and why is it important?
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.
How reliable is monogenic disease screening?
Optima NIPT Plus+ uses a combined maternal and paternal analysis model, providing robust and clinically meaningful risk assessment for inherited conditions.
How long does it take to receive results?
Results are typically available within 10 working days.
How are results reported?
Very Low Risk – Reduced likelihood
Very High Risk – Increased likelihood; confirmatory testing recommended
What samples are required?
Optima NIPT: One maternal blood sample
Optima NIPT Plus+: One maternal blood sample and one cheek (buccal) swab sample from the biological father
Do I need special preparation?
No special preparation is required for the blood sample. For Optima NIPT Plus+, where a cheek swab from the biological father is also required, simple instructions will be provided before sample collection.
Where and how can I have Optima NIPT or Optima NIPT Plus+ performed?
Both Optima NIPT tests can be performed at our diagnostic center with a simple maternal blood draw. The test may be carried out either in coordination with your obstetrician or following direct contact with us.
A home blood draw service is also available upon appointment, provided by trained staff from our diagnostic center.
Sample analysis is performed at specialized OPTIMA Genetics laboratories, an internationally recognized organization in medical genetics, operating under strict scientific and quality standards.
Do I need a referral from my doctor? Is the test reimbursed?
We recommend discussing prenatal testing with your healthcare provider so it is appropriately integrated into your pregnancy care. However, you may also contact us directly for information and guidance.
At present, non-invasive prenatal testing (NIPT) is not reimbursed by the Greek public healthcare system.