Non-Invasive Blood Test for Prenatal Genetic Diagnosis

Overseen By Gilad Magnazi, MEng, MBA

Age: 18+

Sex: Female

Trial Phase: Academic

Sponsor: Identifai Genetics

Disqualifiers: Multiple gestation

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Approved in 4 Jurisdictions This treatment is already approved in other countries

Compensation: Varies

Number of Visits: Unknown

100 Participants Needed

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to test a new, non-invasive blood test called the Non-Invasive Prenatal Test (NIPT) for diagnosing genetic conditions in unborn babies. By analyzing fetal DNA in the mother's blood, researchers aim to detect genetic issues without using invasive procedures like amniocentesis. The trial seeks pregnant women between 10 to 23 weeks along, where both parents are carriers of certain genetic variants. This represents an exciting step forward in prenatal care, potentially offering a safer way to obtain important genetic information about the developing baby. As an unphased trial, participants can contribute to groundbreaking research that could transform prenatal care.

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications.

What prior data suggests that this noninvasive prenatal test is safe for prenatal genetic diagnosis?

Research has shown that non-invasive prenatal testing (NIPT) is completely safe for both the mother and the baby. Studies have found no associated risks. The test examines small pieces of the baby's DNA in the mother's blood, avoiding any risky procedures. NIPT is easy to administer and is often recommended for pregnant women, especially those at higher risk. It reliably checks for genetic conditions without causing harm. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about the Non Invasive Prenatal Test (NIPT) because it offers a safer and less invasive alternative to traditional prenatal genetic testing methods like amniocentesis and chorionic villus sampling. Unlike these standard procedures, which involve collecting samples directly from the womb and carry a risk of miscarriage, NIPT analyzes fetal DNA through a simple blood sample from the mother. This non-invasive approach reduces risk for both the mother and the baby while providing reliable genetic information early in pregnancy.

What evidence suggests that this noninvasive prenatal test is effective for genetic diagnosis?

Research has shown that non-invasive prenatal testing (NIPT) effectively checks for genetic conditions in an unborn baby. This test examines the baby's DNA in the mother's blood. Studies indicate that NIPT can accurately detect chromosomal issues, such as Down syndrome. Although accuracy may vary for each individual, NIPT remains a reliable option for expecting parents concerned about genetic disorders. ^{2 6 7 8 9}

Are You a Good Fit for This Trial?

This trial is for pregnant individuals who are interested in a noninvasive prenatal diagnosis to check for genetic conditions in their developing fetus. The study involves analyzing fetal DNA found in the mother's blood.

Inclusion Criteria

Singleton pregnancy

Either my partner or I carry a genetic variant, or our ultrasound suggests a genetic issue.

Gestational age: 10-23 weeks

Exclusion Criteria

Any Multiple gestation is excluded (MCDA, DCDA, triplets, etc)

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Sample Collection

Maternal and paternal blood samples are collected for the development of new methods to detect genetic abnormalities in the developing fetus

1 week

Analytic Validity Testing

Testing the use of new genetic techniques on cffDNA to detect genetic conditions in the fetus

10 weeks

Follow-up

Participants are monitored for safety and effectiveness after testing

4 weeks

What Are the Treatments Tested in This Trial?

Interventions

• Non Invasive Prenatal Test

Trial Overview The study is testing the accuracy of a new Non Invasive Prenatal Test (NIPT) that uses a blood sample from the pregnant individual to detect potential genetic issues in the fetus without any riskier invasive procedures.

How Is the Trial Designed?

Group I: Identifai Genetics Analytic Validity - Compound Heterozygosity and Samples Collection Experimental Treatment 1 Intervention

Non Invasive Prenatal Test is already approved in European Union, United States, Canada for the following indications:

Approved in European Union as NIPT for:

• Trisomy 21 (Down syndrome)
• Trisomy 13
• Trisomy 18
• Turner syndrome
• Klinefelter syndrome
• Triple X syndrome

Approved in United States as NIPT for:

• Trisomy 21 (Down syndrome)
• Trisomy 13
• Trisomy 18
• Turner syndrome
• Klinefelter syndrome
• Triple X syndrome
• Microdeletions (e.g., 22q11.2 deletions)

Approved in Canada as NIPT for:

• Trisomy 21 (Down syndrome)
• Trisomy 13
• Trisomy 18
• Turner syndrome
• Klinefelter syndrome
• Triple X syndrome

Who Is Running the Clinical Trial?

Identifai Genetics

Lead Sponsor

Trials

1

Recruited

100+

Published Research Related to This Trial

In a study of 450 mothers with singleton pregnancies, it was found that a higher fetal fraction (FF) of cell-free DNA in maternal blood is associated with fewer risks for both the mother and fetus compared to lower FF levels.

The study suggests that monitoring FF levels can provide valuable insights into pregnancy prognosis, aiding in better management of maternal and fetal health.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Evaluation of The Relationship between Cell-Free DNA Fetal Fraction of The Circulatory System and Fetal and Maternal Pregnancy Prognosis: A Prospective Study. Rezaie Keikhaie, K., Moshfeghi, M., Rezaie Kahkhaie, L., et al.[2023]

Noninvasive prenatal testing (NIPT) analyzes cell-free fetal DNA from the mother's blood to assess the risk of fetal aneuploidy, offering a safer alternative to invasive testing methods.

The article reviews the evolution of prenatal testing methods, highlighting the advantages of NIPT over traditional invasive diagnostic tests and serum screening approaches in identifying at-risk pregnancies.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Noninvasive prenatal detection of aneuploidy. Robinson, C., van den Boom, D., Bombard, AT.[2022]

Noninvasive prenatal testing (NIPT) has evolved from being a screening option for high-risk women to a recommended test for all pregnant women, effectively screening for common trisomies and expanding to include sex chromosome abnormalities and microdeletion syndromes.

Despite its advancements, there are ongoing practical and ethical challenges, including the need for healthcare providers to stay informed about the test's scope and implications, as well as concerns about the inclusion of less severe disorders in screening.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Ethical and practical challenges in providing noninvasive prenatal testing for chromosome abnormalities: an update. Benn, P., Chapman, AR.[2019]

Non-invasive prenatal testing (NIPT) is a highly effective screening method for detecting fetal chromosomal abnormalities, particularly trisomy 21, and is superior to traditional screening tests.

When used correctly, NIPT not only improves the detection rates of these abnormalities but also reduces the need for invasive procedures, making it a safer option for expectant parents.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Non-invasive prenatal testing. Harraway, J.[2018]

The introduction of non-invasive prenatal testing (NIPT) did not significantly change the rate of invasive procedures among pregnant women, with rates remaining similar before and after its introduction (11.6% vs. 11.3%).

NIPT is primarily used for reassurance among women not classified as high risk, with 72.7% of those opting for NIPT having a risk estimate of less than 1:100, and 90.9% being 35 years or older, indicating its appeal to older expectant mothers.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Uptake of non-invasive prenatal testing (NIPT) and impact on invasive procedures in a tertiary referral center. Manegold-Brauer, G., Berg, C., Flöck, A., et al.[2018]

Noninvasive prenatal testing (NIPT) can be performed on blood samples with slight to moderate hemolysis (up to 4 g/L of free hemoglobin) without significantly affecting the quality of test results, based on a study of 205 pregnant women.

However, samples with severe hemolysis (over 4 g/L) may lead to increased duplication rates and fetal fraction, which could compromise the accuracy of the test, indicating that such samples should be used with caution.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

The effect of hemolysis on quality control metrics for noninvasive prenatal testing. Guo, Y., Yu, D., Zhou, K., et al.[2022]

Non-invasive prenatal screening (NIPS) using circulating cell-free DNA (cfDNA) can reveal discordant results between fetal genetic sex and neonatal phenotypic sex, highlighting the need for pediatricians to understand this technology better.

In four identified cases of discordant results, potential causes included vanishing twin syndrome and sex chromosome abnormalities, suggesting that unexpected cfDNA findings can lead to early diagnosis and treatment opportunities for various conditions.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Discordant sex between fetal screening and postnatal phenotype requires evaluation. Byers, HM., Neufeld-Kaiser, W., Chang, EY., et al.[2020]

The introduction of noninvasive prenatal testing (NIPT) significantly reduced the uptake of invasive genetic testing in women referred for advanced maternal age or abnormal screening, dropping from 35.4% to 17.9% after NIPT was available.

For women referred in the first trimester, the uptake of first trimester screening (FTS) also decreased from 89.1% to 59.1% with the introduction of NIPT, indicating a preference for the more sensitive and specific NIPT over traditional screening methods.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

The impact of noninvasive prenatal testing on the practice of maternal-fetal medicine. Friel, LA., Czerwinski, JL., Singletary, CN.[2022]

Non-invasive prenatal screening (NIPS) demonstrated a remarkable sensitivity of 100% and specificity of 99.46% in detecting major fetal chromosomal abnormalities, based on a study of 6,258 tests conducted in the Andalusian Health System.

The implementation of NIPS significantly reduced the need for invasive diagnostic procedures by 70%, thereby minimizing the risk of miscarriages associated with such invasive tests.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Assessment of a change of protocol of prenatal screening by inclusion of non-invasive prenatal diagnosis. Cabra-Rodríguez, R., Rodríguez, GB., Rosa, CS., et al.[2023]

Non-invasive prenatal screening (NIPS) demonstrated 100% sensitivity and 99.91% specificity in detecting fetal chromosomal abnormalities across 32,361 pregnancies, making it a highly effective method for identifying trisomies 21, 18, and 13.

The performance of NIPS was consistent in both high-risk and low-risk pregnancies, indicating its reliability as a routine screening tool for fetal aneuploidies regardless of the mother's risk status.

NCBI (Pubmed)

pubmed.ncbi.nlm.nih.gov

Clinical evaluation of non-invasive prenatal screening in 32,394 pregnancies from Changzhi maternal and child health care hospital of Shanxi China. Li, X., Wang, L., Yao, Z., et al.[2022]

Citations

1. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC4303457/

Non-invasive prenatal testing: a review of international ... NIPT is an advance in the detection of fetal chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant woman.

2. sciencedirect.com sciencedirect.com/science/article/pii/S1569199325015632

Routine cell-free DNA prenatal screening identifies ... The objective of this study is to explore the use of non-invasive prenatal testing (NIPT) via cell-free DNA analysis to identify fetuses with CF ...

3. effectivehealthcare.ahrq.gov effectivehealthcare.ahrq.gov/get-involved/nominated-topics/dna-screening

Non-invasive Prenatal Cell-free DNA Screening Yet, it is difficult to assess the effectiveness and safety of the tests individually due to laboratory factors and limited published data.

4. frontiersin.org frontiersin.org/journals/medicine/articles/10.3389/fmed.2025.1522680/full

The evolution of cell-free fetal DNA testing: expanded non- ... NIPT-plus was able to effectively screen for chromosome aneuploidy and CNVs. The performance of CNVs screening was not significantly different among different ...

5. nhsinform.scot nhsinform.scot/healthy-living/screening/pregnancy/non-invasive-prenatal-testing-nipt/

Non-invasive prenatal testing (NIPT) The non-invasive prenatal testing (NIPT) can give a clearer indication of whether your baby may have a genetic syndrome.

6. acog.org acog.org/advocacy/policy-priorities/non-invasive-prenatal-testing

Non-Invasive Prenatal Testing Cell-free DNA testing is the most sensitive and specific screening test for common fetal aneuploidies; it is not equivalent to diagnostic testing. Even if ...

7. womenshealth.labcorp.com womenshealth.labcorp.com/patients/pregnancy/noninvasive-prenatal-screening

NIPS/NIPT Non Invasive Chromosome Testing Noninvasive prenatal screening (NIPS/NIPT) tests can screen for trisomy 21 (Down syndrome) and other chromosomal abnormalities—as well as the sex of your baby ...

8. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC10417786/

Non-Invasive Prenatal Testing (NIPT): Reliability, Challenges ... The results showed NIPT as a safe and highly sensitive screening test recommended for all pregnant women in risk groups to detect foetal ...

9. uhcprovider.com uhcprovider.com/content/dam/provider/docs/public/policies/comm-medical-drug/cell-free-fetal-dna-testing.pdf

Cell-Free Fetal DNA Testing Non-Invasive Prenatal Testing/Screening (NIPT/NIPS): A common term used to describe different types of analysis of. cffDNA (Allyse and Wick ...