An observational study in 22q11 Deletion Syndrome, DiGeorge Syndrome and Trisomy 21, sponsored by Natera, Inc.. Completed at 21 sites in 6 countries. Open to female participants aged 18 Years to 48 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2021-01-29.
Sponsored by Natera, Inc. · Observational
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.
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:
47 studies on the registry are indexed under DiGeorge Syndrome; 11 are open to participants now.
This study's enrollment of 20,960 is above the median of 175 across 17 observational studies indexed under DiGeorge Syndrome.
Browse DiGeorge Syndrome studies →Natera, Inc. is the lead sponsor of 36 studies on the registry; 11 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Pregnant women
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Exclusion Criteria:
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Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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.
22q11.2 Snp-based non-invasive prenatal screening test performance, including positive predictive value (PPV), specificity, and sensitivity
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.
Time frame: 3 years
Combined microdeletion syndrome screening test performance
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.
Time frame: 3 years
No call rate
Determine the failure ('no call') rate for the NATUS method for 22q11.2 detection, as well as for aneuploidy.
Time frame: 3 years
Low fetal fraction aneuploidy risk refinement
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).
Time frame: 3 years
Placental mosaicism exploration
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.
Time frame: 3 years
Placental complications exploration
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).
Time frame: 3 years
Ran from Apr 2015 to primary completion in Jun 2020, 62 months.
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This study is completed, as verified in Jan 2021. You cannot join it, but the record below documents what was studied.
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