Please note that the copy function is not enabled for this field.
If you wish to
modify
existing outcomes, please copy and paste the current outcome text into the Update field.
LOGIN
CREATE ACCOUNT
LOGIN
CREATE ACCOUNT
MY TRIALS
REGISTER TRIAL
FAQs
HINTS AND TIPS
DEFINITIONS
Trial Review
The ANZCTR website will be unavailable from 1pm until 3pm (AEDT) on Wednesday the 30th of October for website maintenance. Please be sure to log out of the system in order to avoid any loss of data.
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been endorsed by the ANZCTR. Before participating in a study, talk to your health care provider and refer to this
information for consumers
Download to PDF
Trial details imported from ClinicalTrials.gov
For full trial details, please see the original record at
https://clinicaltrials.gov/study/NCT02381457
Registration number
NCT02381457
Ethics application status
Date submitted
2/03/2015
Date registered
6/03/2015
Date last updated
29/01/2021
Titles & IDs
Public title
SNP-based Microdeletion and Aneuploidy RegisTry (SMART)
Query!
Scientific title
SNP-based Microdeletion and Aneuploidy RegisTry
Query!
Secondary ID [1]
0
0
14-024-NPT
Query!
Universal Trial Number (UTN)
Query!
Trial acronym
SMART
Query!
Linked study record
Query!
Health condition
Health condition(s) or problem(s) studied:
22q11 Deletion Syndrome
0
0
Query!
DiGeorge Syndrome
0
0
Query!
Trisomy 21
0
0
Query!
Trisomy 18
0
0
Query!
Trisomy 13
0
0
Query!
Monosomy X
0
0
Query!
Sex Chromosome Abnormalities
0
0
Query!
Cri-du-Chat Syndrome
0
0
Query!
Angelman Syndrome
0
0
Query!
Prader-Willi Syndrome
0
0
Query!
1p36 Deletion Syndrome
0
0
Query!
Condition category
Condition code
Human Genetics and Inherited Disorders
0
0
0
0
Query!
Other human genetics and inherited disorders
Query!
Mental Health
0
0
0
0
Query!
Learning disabilities
Query!
Neurological
0
0
0
0
Query!
Other neurological disorders
Query!
Human Genetics and Inherited Disorders
0
0
0
0
Query!
Down's syndrome
Query!
Cardiovascular
0
0
0
0
Query!
Other cardiovascular diseases
Query!
Other
0
0
0
0
Query!
Research that is not of generic health relevance and not applicable to specific health categories listed above
Query!
Intervention/exposure
Study type
Observational [Patient Registry]
Query!
Patient registry
Query!
Target follow-up duration
Query!
Target follow-up type
Query!
Description of intervention(s) / exposure
Pregnancies undergoing prenatal microdeletion screening - Pregnant women undergoing non-invasive prenatal screening for microdeletion and aneuploidy syndromes.
No drug will be administrated, this cohort will undergo a non invasive prenatal blood test and then follow up data and specimens will be collected for research analysis.
Query!
Comparator / control treatment
Query!
Control group
Query!
Outcomes
Primary outcome [1]
0
0
22q11.2 Snp-based non-invasive prenatal screening test performance, including positive predictive value (PPV), specificity, and sensitivity
Query!
Assessment method [1]
0
0
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.
Query!
Timepoint [1]
0
0
3 years
Query!
Secondary outcome [1]
0
0
Combined microdeletion syndrome screening test performance
Query!
Assessment method [1]
0
0
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.
Query!
Timepoint [1]
0
0
3 years
Query!
Secondary outcome [2]
0
0
No call rate
Query!
Assessment method [2]
0
0
Determine the failure ('no call') rate for the NATUS method for 22q11.2 detection, as well as for aneuploidy.
Query!
Timepoint [2]
0
0
3 years
Query!
Secondary outcome [3]
0
0
Low fetal fraction aneuploidy risk refinement
Query!
Assessment method [3]
0
0
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), or whether low fetal fraction is associated with specific ultrasound findings that may indicate aneuploidy (e.g. triploidy, trisomy 13 and 18).
Query!
Timepoint [3]
0
0
3 years
Query!
Secondary outcome [4]
0
0
Placental mosaicism exploration
Query!
Assessment method [4]
0
0
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.
Query!
Timepoint [4]
0
0
3 years
Query!
Secondary outcome [5]
0
0
Placental complications exploration
Query!
Assessment method [5]
0
0
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).
Query!
Timepoint [5]
0
0
3 years
Query!
Eligibility
Key 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
Query!
Minimum age
18
Years
Query!
Query!
Maximum age
48
Years
Query!
Query!
Sex
Females
Query!
Can healthy volunteers participate?
Yes
Query!
Key exclusion criteria
* Received results of the Panorama test prior to enrollment
* Organ transplant recipient
* Egg donor used
Query!
Study design
Purpose
Query!
Duration
Query!
Selection
Query!
Timing
Prospective
Query!
Statistical methods / analysis
Query!
Recruitment
Recruitment status
Completed
Query!
Data analysis
Query!
Reason for early stopping/withdrawal
Query!
Other reasons
Query!
Date of first participant enrolment
Anticipated
Query!
Actual
1/04/2015
Query!
Date of last participant enrolment
Anticipated
Query!
Actual
Query!
Date of last data collection
Anticipated
Query!
Actual
1/06/2020
Query!
Sample size
Target
Query!
Accrual to date
Query!
Final
20960
Query!
Recruitment in Australia
Recruitment state(s)
NSW
Query!
Recruitment hospital [1]
0
0
Royal Prince Alfred - Camperdown
Query!
Recruitment postcode(s) [1]
0
0
2050 - Camperdown
Query!
Recruitment outside Australia
Country [1]
0
0
United States of America
Query!
State/province [1]
0
0
California
Query!
Country [2]
0
0
United States of America
Query!
State/province [2]
0
0
New Jersey
Query!
Country [3]
0
0
United States of America
Query!
State/province [3]
0
0
New York
Query!
Country [4]
0
0
United States of America
Query!
State/province [4]
0
0
Texas
Query!
Country [5]
0
0
United States of America
Query!
State/province [5]
0
0
Utah
Query!
Country [6]
0
0
Ireland
Query!
State/province [6]
0
0
Dublin
Query!
Country [7]
0
0
Spain
Query!
State/province [7]
0
0
Barcelona
Query!
Country [8]
0
0
Sweden
Query!
State/province [8]
0
0
Gothenburg
Query!
Country [9]
0
0
United Kingdom
Query!
State/province [9]
0
0
London
Query!
Funding & Sponsors
Primary sponsor type
Commercial sector/industry
Query!
Name
Natera, Inc.
Query!
Address
Query!
Country
Query!
Other collaborator category [1]
0
0
Other
Query!
Name [1]
0
0
George Washington University
Query!
Address [1]
0
0
Query!
Country [1]
0
0
Query!
Other collaborator category [2]
0
0
Other
Query!
Name [2]
0
0
University of California, San Francisco
Query!
Address [2]
0
0
Query!
Country [2]
0
0
Query!
Other collaborator category [3]
0
0
Other
Query!
Name [3]
0
0
Montefiore Medical Center
Query!
Address [3]
0
0
Query!
Country [3]
0
0
Query!
Other collaborator category [4]
0
0
Other
Query!
Name [4]
0
0
Children's Hospital of Philadelphia
Query!
Address [4]
0
0
Query!
Country [4]
0
0
Query!
Ethics approval
Ethics application status
Query!
Summary
Brief summary
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.
Query!
Trial website
https://clinicaltrials.gov/study/NCT02381457
Query!
Trial related presentations / publications
American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol. 2013 Dec;122(6):1374-7. doi: 10.1097/01.AOG.0000438962.16108.d1. Pergament E, Cuckle H, Zimmermann B, Banjevic M, Sigurjonsson S, Ryan A, Hall MP, Dodd M, Lacroute P, Stosic M, Chopra N, Hunkapiller N, Prosen DE, McAdoo S, Demko Z, Siddiqui A, Hill M, Rabinowitz M. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol. 2014 Aug;124(2 Pt 1):210-218. doi: 10.1097/AOG.0000000000000363. Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, Lu V, McCullough R, McCarthy E, Nygren AO, Dean J, Tang L, Hutchison D, Lu T, Wang H, Angkachatchai V, Oeth P, Cantor CR, Bombard A, van den Boom D. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol. 2011 Mar;204(3):205.e1-11. doi: 10.1016/j.ajog.2010.12.060. Epub 2011 Feb 18. Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Deciu C, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011 Nov;13(11):913-20. doi: 10.1097/GIM.0b013e3182368a0e. Sehnert AJ, Rhees B, Comstock D, de Feo E, Heilek G, Burke J, Rava RP. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem. 2011 Jul;57(7):1042-9. doi: 10.1373/clinchem.2011.165910. Epub 2011 Apr 25. Benn P, Cuckle H, Pergament E. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012 Jun;119(6):1270; author reply 1270-1. doi: 10.1097/AOG.0b013e318258c401. No abstract available. Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med. 2012 Mar;14(3):296-305. doi: 10.1038/gim.2011.73. Epub 2012 Feb 2. Sparks AB, Struble CA, Wang ET, Song K, Oliphant A. Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012 Apr;206(4):319.e1-9. doi: 10.1016/j.ajog.2012.01.030. Epub 2012 Jan 26. Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB, Rodriguez MH, Williams J 3rd, Mitchell ME, Adair CD, Lee H, Jacobsson B, Tomlinson MW, Oepkes D, Hollemon D, Sparks AB, Oliphant A, Song K. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012 Aug;207(2):137.e1-8. doi: 10.1016/j.ajog.2012.05.021. Epub 2012 Jun 1. Nicolaides KH, Syngelaki A, Gil M, Atanasova V, Markova D. Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. Prenat Diagn. 2013 Jun;33(6):575-9. doi: 10.1002/pd.4103. Epub 2013 Apr 24. Nicolaides KH, Syngelaki A, del Mar Gil M, Quezada MS, Zinevich Y. Prenatal detection of fetal triploidy from cell-free DNA testing in maternal blood. Fetal Diagn Ther. 2014;35(3):212-7. doi: 10.1159/000355655. Epub 2013 Oct 10. Samango-Sprouse C, Banjevic M, Ryan A, Sigurjonsson S, Zimmermann B, Hill M, Hall MP, Westemeyer M, Saucier J, Demko Z, Rabinowitz M. SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy. Prenat Diagn. 2013 Jul;33(7):643-9. doi: 10.1002/pd.4159. Epub 2013 Jun 20. Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012 Dec 6;367(23):2175-84. doi: 10.1056/NEJMoa1203382. Wapner RJ, Babiarz JE, Levy B, Stosic M, Zimmermann B, Sigurjonsson S, Wayham N, Ryan A, Banjevic M, Lacroute P, Hu J, Hall MP, Demko Z, Siddiqui A, Rabinowitz M, Gross SJ, Hill M, Benn P. Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes. Am J Obstet Gynecol. 2015 Mar;212(3):332.e1-9. doi: 10.1016/j.ajog.2014.11.041. Epub 2014 Dec 2. Vora NL, O'Brien BM. Noninvasive prenatal testing for microdeletion syndromes and expanded trisomies: proceed with caution. Obstet Gynecol. 2014 May;123(5):1097-1099. doi: 10.1097/AOG.0000000000000237. Taglauer ES, Wilkins-Haug L, Bianchi DW. Review: cell-free fetal DNA in the maternal circulation as an indication of placental health and disease. Placenta. 2014 Feb;35 Suppl(Suppl):S64-8. doi: 10.1016/j.placenta.2013.11.014. Epub 2013 Dec 1. Knight M, Redman CW, Linton EA, Sargent IL. Shedding of syncytiotrophoblast microvilli into the maternal circulation in pre-eclamptic pregnancies. Br J Obstet Gynaecol. 1998 Jun;105(6):632-40. doi: 10.1111/j.1471-0528.1998.tb10178.x. Dar P, Curnow KJ, Gross SJ, Hall MP, Stosic M, Demko Z, Zimmermann B, Hill M, Sigurjonsson S, Ryan A, Banjevic M, Kolacki PL, Koch SW, Strom CM, Rabinowitz M, Benn P. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol. 2014 Nov;211(5):527.e1-527.e17. doi: 10.1016/j.ajog.2014.08.006. Epub 2014 Aug 8. Amos-Landgraf JM, Ji Y, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB, Driscoll DJ, Rogan PK, Schwartz S, Nicholls RD. Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am J Hum Genet. 1999 Aug;65(2):370-86. doi: 10.1086/302510. Roberts JM, Myatt L, Spong CY, Thom EA, Hauth JC, Leveno KJ, Pearson GD, Wapner RJ, Varner MW, Thorp JM Jr, Mercer BM, Peaceman AM, Ramin SM, Carpenter MW, Samuels P, Sciscione A, Harper M, Smith WJ, Saade G, Sorokin Y, Anderson GB; Eunice Kennedy Shriver National Institute of Child Health and Human Development Maternal-Fetal Medicine Units Network. Vitamins C and E to prevent complications of pregnancy-associated hypertension. N Engl J Med. 2010 Apr 8;362(14):1282-91. doi: 10.1056/NEJMoa0908056. Tranquilli AL, Emanuelli M. The thrombophilic fetus. Med Hypotheses. 2006;67(5):1226-9. doi: 10.1016/j.mehy.2006.04.046. Epub 2006 Jul 11. Faiz AS, Ananth CV. Etiology and risk factors for placenta previa: an overview and meta-analysis of observational studies. J Matern Fetal Neonatal Med. 2003 Mar;13(3):175-90. doi: 10.1080/jmf.13.3.175.190. Dar P, Jacobsson B, MacPherson C, Egbert M, Malone F, Wapner RJ, Roman AS, Khalil A, Faro R, Madankumar R, Edwards L, Haeri S, Silver R, Vohra N, Hyett J, Clunie G, Demko Z, Martin K, Rabinowitz M, Flood K, Carlsson Y, Doulaveris G, Malone C, Hallingstrom M, Klugman S, Clifton R, Kao C, Hakonarson H, Norton ME. Cell-free DNA screening for trisomies 21, 18, and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation. Am J Obstet Gynecol. 2022 Aug;227(2):259.e1-259.e14. doi: 10.1016/j.ajog.2022.01.019. Epub 2022 Jan 25. Dar P, Jacobsson B, Clifton R, Egbert M, Malone F, Wapner RJ, Roman AS, Khalil A, Faro R, Madankumar R, Edwards L, Strong N, Haeri S, Silver R, Vohra N, Hyett J, Demko Z, Martin K, Rabinowitz M, Flood K, Carlsson Y, Doulaveris G, Daly S, Hallingstrom M, MacPherson C, Kao C, Hakonarson H, Norton ME. Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome. Am J Obstet Gynecol. 2022 Jul;227(1):79.e1-79.e11. doi: 10.1016/j.ajog.2022.01.002. Epub 2022 Jan 13.
Query!
Public notes
Query!
Contacts
Principal investigator
Name
0
0
Peer Dar, MD
Query!
Address
0
0
Montefiore Medical Center
Query!
Country
0
0
Query!
Phone
0
0
Query!
Fax
0
0
Query!
Email
0
0
Query!
Contact person for public queries
Name
0
0
Query!
Address
0
0
Query!
Country
0
0
Query!
Phone
0
0
Query!
Fax
0
0
Query!
Email
0
0
Query!
Contact person for scientific queries
No information has been provided regarding IPD availability
What supporting documents are/will be available?
No Supporting Document Provided
Results publications and other study-related documents
Type
Citations or Other Details
Journal
Pergament E, Cuckle H, Zimmermann B, Banjevic M, S...
[
More Details
]
Journal
Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagas...
[
More Details
]
Journal
Palomaki GE, Kloza EM, Lambert-Messerlian GM, Hadd...
[
More Details
]
Journal
Sehnert AJ, Rhees B, Comstock D, de Feo E, Heilek ...
[
More Details
]
Journal
Benn P, Cuckle H, Pergament E. Genome-wide fetal a...
[
More Details
]
Journal
Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian...
[
More Details
]
Journal
Sparks AB, Struble CA, Wang ET, Song K, Oliphant A...
[
More Details
]
Journal
Norton ME, Brar H, Weiss J, Karimi A, Laurent LC, ...
[
More Details
]
Journal
Nicolaides KH, Syngelaki A, Gil M, Atanasova V, Ma...
[
More Details
]
Journal
Nicolaides KH, Syngelaki A, del Mar Gil M, Quezada...
[
More Details
]
Journal
Samango-Sprouse C, Banjevic M, Ryan A, Sigurjonsso...
[
More Details
]
Journal
Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Z...
[
More Details
]
Journal
Wapner RJ, Babiarz JE, Levy B, Stosic M, Zimmerman...
[
More Details
]
Journal
Vora NL, O'Brien BM. Noninvasive prenatal testing ...
[
More Details
]
Journal
Taglauer ES, Wilkins-Haug L, Bianchi DW. Review: c...
[
More Details
]
Journal
Knight M, Redman CW, Linton EA, Sargent IL. Sheddi...
[
More Details
]
Journal
Dar P, Curnow KJ, Gross SJ, Hall MP, Stosic M, Dem...
[
More Details
]
Journal
Amos-Landgraf JM, Ji Y, Gottlieb W, Depinet T, Wan...
[
More Details
]
Journal
Roberts JM, Myatt L, Spong CY, Thom EA, Hauth JC, ...
[
More Details
]
Journal
Tranquilli AL, Emanuelli M. The thrombophilic fetu...
[
More Details
]
Journal
Faiz AS, Ananth CV. Etiology and risk factors for ...
[
More Details
]
Results not provided in
https://clinicaltrials.gov/study/NCT02381457
Download to PDF