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

Trial Summary

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 data supports the effectiveness of the treatment Non Invasive Prenatal Test (NIPT)?

Research shows that NIPT is a highly sensitive and specific test for detecting fetal chromosomal abnormalities like Down syndrome (trisomy 21), making it superior to other screening methods. It also reduces the need for invasive procedures, which can be riskier for both the mother and the baby. ^{1 2 3 4 5}

Is non-invasive prenatal testing (NIPT) safe for humans?

Non-invasive prenatal testing (NIPT) is generally considered safe because it only requires a blood sample from the mother, avoiding risks associated with more invasive procedures like amniocentesis (a test where a needle is used to take fluid from around the baby). ^{2 4 6 7 8}

How is the treatment Non Invasive Prenatal Test (NIPT) different from other prenatal testing methods?

NIPT is unique because it uses a simple blood test from the mother to analyze cell-free fetal DNA, providing a non-invasive way to screen for genetic conditions like Down syndrome, unlike traditional methods that may require invasive procedures like amniocentesis. ^{1 2 3 9 10}

What is the purpose of this trial?

The purpose of this study is to validate a noninvasive prenatal diagnosis procedure for genetic conditions in the developing fetus by analyzing fetal genetic material present in the pregnant mother's blood.

Eligibility Criteria

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

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

Treatment Details

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.

Participant Groups

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+

Findings from Research

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]

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]

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]

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]

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) 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]

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]

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]

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]

References

1. Germany pubmed.ncbi.nlm.nih.gov

Uptake of non-invasive prenatal testing (NIPT) and impact on invasive procedures in a tertiary referral center. [2018]

2. Australia pubmed.ncbi.nlm.nih.gov

Non-invasive prenatal testing. [2018]

3. United States pubmed.ncbi.nlm.nih.gov

Noninvasive prenatal detection of aneuploidy. [2022]

4. Iran 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. [2023]

5. United States pubmed.ncbi.nlm.nih.gov

The impact of noninvasive prenatal testing on the practice of maternal-fetal medicine. [2022]

6. Germany pubmed.ncbi.nlm.nih.gov

Assessment of a change of protocol of prenatal screening by inclusion of non-invasive prenatal diagnosis. [2023]

7. United States pubmed.ncbi.nlm.nih.gov

Discordant sex between fetal screening and postnatal phenotype requires evaluation. [2020]

8. Serbia 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. [2022]

9. England pubmed.ncbi.nlm.nih.gov

Ethical and practical challenges in providing noninvasive prenatal testing for chromosome abnormalities: an update. [2019]

10. England pubmed.ncbi.nlm.nih.gov

The effect of hemolysis on quality control metrics for noninvasive prenatal testing. [2022]