First-tier Non-invasive prenatal screening (NIPS) for Aneuploidy

Phase-Based Estimates
1
Effectiveness
1
Safety
CIUSSS Côte-Nord, Sept-Îles, Canada
Aneuploidy+1 More
First-tier Non-invasive prenatal screening (NIPS) - DiagnosticTest
Eligibility
18+
Female
Eligible conditions
Aneuploidy

Study Summary

PErsonalized Genomics for Prenatal Abnormalities Screening USing Maternal Blood

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Eligible Conditions

  • Aneuploidy
  • Prenatal Disorder

Treatment Effectiveness

Study Objectives

This trial is evaluating whether First-tier Non-invasive prenatal screening (NIPS) will improve 1 primary outcome and 9 secondary outcomes in patients with Aneuploidy. Measurement will happen over the course of At 22 weeks of gestation.

Week 22
Patient-Reported Experience Measure (PREM) - Score
At weeks of gestation 10-13, 16 and 22
Change in PROMIS Emotional Distress - Anxiety - Short Form 8a Score
Week 22
Change in PROMIS-29 Score
Week 24
Gestational age at diagnosis
Gestational age at negative screening result
Gestational age at positive screening result
gestational age at termination of pregnancy
numbers of days for women with false positive result of screen to wait for result of definite test
percentage of women undergoing invasive diagnostic testing
proportion of women with no results

Trial Safety

Trial Design

2 Treatment Groups

Standard of care (2nd tier NIPS)
First-tier NIPS

This trial requires 7500 total participants across 2 different treatment groups

This trial involves 2 different treatments. First-tier Non-invasive Prenatal Screening (NIPS) is the primary treatment being studied. Participants will all receive the same treatment. There is no placebo group. The treatments being tested are not being studied for commercial purposes.

First-tier NIPSFor the intervention arm (1st tier NIPS) women will receive First-tier Non-invasive prenatal screening (NIPS) i.e. provide a blood sample between 10-13+5 weeks gestation with NIPS results within 7 - 10 days of sample collection. Ultrasound examination in first and second trimester will be done based on clinical care practice ordered by health care provider. In case of a failed NIPS test (expected to be between 2% and 4% of samples), a new blood sample will be drawn for NIPS retest as well as for a traditional SIPS(serum integrated prenatal screening) or QUAD(quadruple marker prenatal screening) screen (depending on gestational age). Pregnant women with a positive NIPS test will be offered Invasive prenatal testing for fetal aneuploidy (fetal chromosome analysis).
Standard of care (2nd tier NIPS)For the standard-of-care arm (2nd tier NIPS) women will undergo Traditional integrated prenatal screening i.e. traditional biochemical (+/- NT) and those with a positive screen for T21 or T18 will be offered Second-tier Non-invasive prenatal screening (NIPS) (for T21, T18, T13) or Invasive prenatal testing for fetal aneuploidy. Ultrasound examination in first and second trimester will be done based on clinical care practice ordered by health care provider. Pregnant women with a positive NIPS test will be offered Invasive prenatal testing for fetal aneuploidy (fetal chromosome analysis).

Trial Logistics

Trial Timeline

Approximate Timeline
Screening: ~3 weeks
Treatment: Varies
Reporting: at weeks of gestation 10-13, 16 and 22
This trial has the following approximate timeline: 3 weeks for initial screening, variable treatment timelines, and roughly at weeks of gestation 10-13, 16 and 22 for reporting.

Who is running the study

Principal Investigator
F. R.
Prof. François Rousseau, MD
CHU de Quebec-Universite Laval

Closest Location

CIUSSS Côte-Nord - Sept-Îles, Canada

Eligibility Criteria

This trial is for female patients aged 18 and older. There are 3 eligibility criteria to participate in this trial as listed below.

Mark “yes” if the following statements are true for you:
10-13+6 wks determined by dating ultrasound or last menstrual period.
Not intending to pursue self pay NIPT
Pregnant women 19 years or older wanting prenatal screening

Patient Q&A Section

Please Note: These questions and answers are submitted by anonymous patients, and have not been verified by our internal team.

What are common treatments for aneuploidy?

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Current treatments for aneuploidy are mainly based on clinical experience with few randomized clinical trials. There is, however, insufficient data available on the use of anti-oestrogen drugs in patients with aneuploidy.

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How many people get aneuploidy a year in the United States?

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At 1 in 6,000 live births in the US the likelihood of aneuploidy is as high as that of common chromosomal abnormalities. The probability of a viable pregnancy depends on the ploidy of the fetus, and many women terminate unintended pregnancies due to aneuploidy. Therefore, the impact of aneuploidy is not insignificant.

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Can aneuploidy be cured?

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Aneuploidy can be detected with normal ultrasonography. Treatments, which may be associated with miscarriage, are often ineffective at curing aneuploidy: hence, routine termination of treatment is advised. Aneuploidy can be the only detectable anomaly.

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What are the signs of aneuploidy?

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Aneuploidy may be noted through non-invasive tests such as screening for birth defects. However, many birth defects are very mild and are not noticeable during childhood, so they might never be recognized if they are not recognized at birth. Also, it is important to remember that although some aneuploidy may affect the physical characteristics of individuals, it is not directly related to mental health conditions. Thus, it's important to seek professional help when signs of aneuploidy are noticed.\nquestion: Are we ready for organ transplants in India? answer: Despite an increase in medical advances, it is not possible to predict the need for organ transplantation in India so early.

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What causes aneuploidy?

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Aneuploidy is commonly seen in both benign tumors and malignant tumors. However, in malignancy, aneuploidy is more common and has a greater impact on patient survival.

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What is aneuploidy?

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The clinical significance of aneuploidy in nonhematopoietic tissues varies considerably between the different tissues. Although each cell has the potential to evolve into a neoplastic cell, this would depend not only on the tissue, but also on its normal chromosome complement. In addition to assessing the histopathologic features, the clinical significance of the chromosomal abnormality also depends on the stage of tumor progression.

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Does aneuploidy run in families?

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The frequency of familial aneuploidy is higher than would be predicted by mutational and structural deletions in these cancer genes; that is, an aneuploidy is present, but the cancer-causing mutation(s) or structural alterations are not part of an apparent "tetrad." The familiality of aneuploidy, while not in itself conclusive, is of significance in assessing the potential of any cancer genes or mutations; aneuploidy is as important an index of familiality in any genetic model for tumorigenesis as is the presence of any detectable somatic change.

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Has first-tier non-invasive prenatal screening (nips) proven to be more effective than a placebo?

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This is the first study showing statistically significant change in first-trimester nicks resulting from NIPE. The study also showed that nips can be safely performed in the first trimester of pregnancy. It may have further implications in the use of NIPE in pregnancy.

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What is first-tier non-invasive prenatal screening (nips)?

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There is a clear difference in the willingness to be screened by nips versus invasive testing. Further, one-half of those who would want to screen by nips were willing to pay £60>£115 for a first-tier nips result and only 5% would be willing to pay >£90. This result is important when it is realised that many people may choose to be screened by invasive testing.

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What is the latest research for aneuploidy?

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There is a lack of evidence to support the claims made by the health professional that aneuploidy is related to autism, mental retardation or learning disability. Although such claims appear to be supported by the general literature, there are also problems with the use of many statistical techniques. New studies have demonstrated that chromosome complement and the parent's age may influence chromosome mosaicism. Research into the causes of autism continue to be contentious. There is clear evidence that many chromosome abnormalities occur in children with autism. We must continue to look for new ways of categorizing and describing autism. Clearly, research into the genetics of autism should continue.

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Is first-tier non-invasive prenatal screening (nips) typically used in combination with any other treatments?

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The present study suggested that the use of a single NIPA screening test (Cvn3) may be associated with significant overutilization. Moreover, this study emphasizes the urgent need for more research involving multi-center patient cohorts, incorporating an extensive audit of pre-treatment data in order to determine whether this can be used to identify those conditions requiring additional treatments.

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Have there been any new discoveries for treating aneuploidy?

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Some recent studies have reported new treatment modalities based on trisomy 13 or 18. The exact mechanisms involved are being further clarified. At present, the role of certain chromosome aneuploidies in a predisposition for certain cancers has also been noted. These studies, however, are limited by the small sample size.

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