SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
| Status: | Active, not recruiting |
|---|---|
| Conditions: | Other Indications, Other Indications, Other Indications, Other Indications, Neurology, Orthopedic, Women's Studies |
| Therapuetic Areas: | Neurology, Orthopedics / Podiatry, Other, Reproductive |
| Healthy: | No |
| Age Range: | 18 - 48 |
| Updated: | 2/9/2019 |
| Start Date: | April 2015 |
| End Date: | March 2020 |
SNP-based Microdeletion and Aneuploidy RegisTry
This multi-center prospective observational study is designed to track birth outcomes and
perinatal correlates to the Panorama prenatal screening test in the general population among
ten thousand women who present clinically and elect Panorama microdeletion and aneuploidy
screening as part of their routine care. The primary objective is to evaluate the performance
of Single Nucleotide Polymorphism (SNP)-based Non Invasive Prenatal Testing (NIPT) for
22q11.2 microdeletion (DiGeorge syndrome) in this large cohort of pregnant women. This will
be done by performing a review of perinatal medical records and obtaining biospecimens after
birth to perform genetic diagnostic testing for 22q11.2 deletion. Results from the follow-up
specimens will be compared to those obtained by the Panorama screening test to determine test
performance. Specific test performance parameters will include: PPV, specificity, and
sensitivity.
perinatal correlates to the Panorama prenatal screening test in the general population among
ten thousand women who present clinically and elect Panorama microdeletion and aneuploidy
screening as part of their routine care. The primary objective is to evaluate the performance
of Single Nucleotide Polymorphism (SNP)-based Non Invasive Prenatal Testing (NIPT) for
22q11.2 microdeletion (DiGeorge syndrome) in this large cohort of pregnant women. This will
be done by performing a review of perinatal medical records and obtaining biospecimens after
birth to perform genetic diagnostic testing for 22q11.2 deletion. Results from the follow-up
specimens will be compared to those obtained by the Panorama screening test to determine test
performance. Specific test performance parameters will include: PPV, specificity, and
sensitivity.
The primary objective is to determine in a prospective study the performance of SNP based
NIPT for the 22q11.2 microdeletion (DiGeorge syndrome) in a large cohort of pregnant women
clinically opting for this form of screening. Specific test performance parameters will
include: positive predictive value (PPV), specificity, and sensitivity.
Secondary objectives include:
1. Determine the test performance (PPV, specificity) of SNP based NIPT for detecting other
microdeletion syndromes available in the Panorama microdeletion panel (e.g., 1p36
deletion, Cri-du-chat, Prader-Willi, and Angelman) individually and all combined
(including 22q11.2). Given the incidences of <1:5000, the confidence intervals are
expected to be large.
2. Determine the failure ('no call') rate for the Next-generation Aneuploidy Test Using
SNPs (NATUS) method for 22q11.2 detection, as well as for aneuploidy.
3. Determine whether a more precise risk for aneuploidy can be generated in the setting of
low fetal fraction by incorporating maternal BMI (adjusted fetal fraction percentile).
4. Assess whether low fetal fraction is associated with specific ultrasound findings that
may indicate aneuploidy (e.g. triploidy, trisomy 13 and 18).
5. Investigate the relationship between NIPT and sonographic (nuchal translucency and
anatomy survey) markers and serum markers from 1st and 2nd trimester aneuploidy
screening.
6. Determine sensitivity, specificity, and PPV for chromosomal aneuploidies and sex
chromosome abnormalities.
7. Perform detailed assessment of false positive aneuploidy samples to better understand
sources of error, including placental studies to further refine issues surrounding
mosaicism as NIPT represents circulating placental DNA.
8. Investigate any relationships between circulating placental DNA (fetal fraction) or
other test parameters including potential genotypic markers, and outcomes related to
abnormal placentation (including but not limited to preeclampsia, small for gestational
age and morbidly adherent placenta).
9. Investigate other risk factors that may impact risk assessment for microdeletions
including sonographic findings consistent with 22q11.2 (cardiac anomalies and thymus
size).
NIPT for the 22q11.2 microdeletion (DiGeorge syndrome) in a large cohort of pregnant women
clinically opting for this form of screening. Specific test performance parameters will
include: positive predictive value (PPV), specificity, and sensitivity.
Secondary objectives include:
1. Determine the test performance (PPV, specificity) of SNP based NIPT for detecting other
microdeletion syndromes available in the Panorama microdeletion panel (e.g., 1p36
deletion, Cri-du-chat, Prader-Willi, and Angelman) individually and all combined
(including 22q11.2). Given the incidences of <1:5000, the confidence intervals are
expected to be large.
2. Determine the failure ('no call') rate for the Next-generation Aneuploidy Test Using
SNPs (NATUS) method for 22q11.2 detection, as well as for aneuploidy.
3. Determine whether a more precise risk for aneuploidy can be generated in the setting of
low fetal fraction by incorporating maternal BMI (adjusted fetal fraction percentile).
4. Assess whether low fetal fraction is associated with specific ultrasound findings that
may indicate aneuploidy (e.g. triploidy, trisomy 13 and 18).
5. Investigate the relationship between NIPT and sonographic (nuchal translucency and
anatomy survey) markers and serum markers from 1st and 2nd trimester aneuploidy
screening.
6. Determine sensitivity, specificity, and PPV for chromosomal aneuploidies and sex
chromosome abnormalities.
7. Perform detailed assessment of false positive aneuploidy samples to better understand
sources of error, including placental studies to further refine issues surrounding
mosaicism as NIPT represents circulating placental DNA.
8. Investigate any relationships between circulating placental DNA (fetal fraction) or
other test parameters including potential genotypic markers, and outcomes related to
abnormal placentation (including but not limited to preeclampsia, small for gestational
age and morbidly adherent placenta).
9. Investigate other risk factors that may impact risk assessment for microdeletions
including sonographic findings consistent with 22q11.2 (cardiac anomalies and thymus
size).
Inclusion Criteria:
- Singleton pregnancy
- Receiving Panorama prenatal screening test for both microdeletions (at least 22q11.2)
and aneuploidy
- Planned hospital delivery
- Gestational age of ≥ 9 weeks, 0 days based on clinical information and evaluation.
- Able to provide informed consent
Exclusion Criteria:
- Received results of the Panorama test prior to enrollment
- Organ transplant recipient
- Egg donor used
We found this trial at
17
sites
Cooper University Hospital Cooper University Health Care, the clinical campus of Cooper Medical School of...
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300 Community Drive
Manhasset, New York 11030
Manhasset, New York 11030
(516) 562-0100
Phone: 516-532-2464
North Shore University Hospital North Shore-LIJ Health System includes 16 award-winning hospitals and nearly 400...
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Columbia University In 1897, the university moved from Forty-ninth Street and Madison Avenue, where it...
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201 Presidents Circle
Salt Lake City, Utah 84108
Salt Lake City, Utah 84108
801) 581-7200
Phone: 801-581-5157
University of Utah Research is a major component in the life of the U benefiting...
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Austin, Texas 78758
Principal Investigator: Sina Haeri, MD
Phone: 512-493-6905
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Long Island Jewish Medical Center Serving North Shore LIJ Health System employees and their families....
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New York, New York 10467
Principal Investigator: Peer Dar, MD
Phone: 718-405-8214
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New York University More than 175 years ago, Albert Gallatin, the distinguished statesman who served...
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