Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Genetic Diseases
- Sponsor
- Columbia University
- Enrollment
- 4450
- Locations
- 1
- Primary Endpoint
- Detection rate of fetal cytogentic abnormalites between microarray copy number analysis and karyotype in prenatal samples
- Status
- Completed
- Last Updated
- 13 years ago
Overview
Brief Summary
The main objective of the multi-centered collaborative study is to evaluate the accuracy, efficacy and clinical advantages of prenatal diagnosis using microarray analysis as compared with conventional karyotyping.
Detailed Description
Specifically, the aims are as follows: 1. Demonstrate the performance of microarray analysis as a clinical method for prenatal cytogenetic diagnosis with regard to: 1. Accuracy in the detection of the common autosomal and sex chromosomal aneuploid (trisomies, 13,18,21, 45,X, 47,XXY, etc.) 2. Ability of microarray to diagnose less common, but clinically significant, cytogenetic aneusomies (e.g. DiGeorge, Williams, Smith- Magenis, Prader-Willi syndrome, etc.) currently not detected by conventional karyotype. 3. Evaluation of the utility of microarray in specific clinical scenarios such as ultrasound detection of congenital anomalies and fetal growth disorders. 2. Evaluate the appropriate construction of prenatal diagnostic microarray devices to allow maximal detection of clinically relevant information with minimal detection of unexpected and difficult to interpret findings which have no clinical significance but might provoke patient anxiety. 3. Evaluate the feasibility and cost-effectiveness of using microarrays as a primary prenatal diagnostic tool. 4. Evaluate approaches to integrate microarray into clinical prenatal cytogenetic diagnostic practice. 5. Develop a prenatal diagnostic tissue repository (TDR) to facilitate the further development of microarray technology. This will be used to investigate the molecular etiologies of specific fetal anomalies and to test newer technologies, such as higher resolution microarrays.
Investigators
Ronald J Wapner, MD
Professor of Obstetrics & Gynecology
Columbia University
Eligibility Criteria
Inclusion Criteria
- •Singleton pregnancy having either chorionic villus sampling in the first trimester or an amniocentesis procedure at or after 16 weeks of gestation performed for prenatal cytogenetic diagnosis
- •Karyotyping to be performed at Genzyme Genetics Cytogenetics Laboratory
- •Trained study personnel available
- •Presenting at pre-specified sites using Genzyme Genetics for routine prenatal diagnostic services
Exclusion Criteria
- •Unavailability of one or both biologic parents to provide blood sample (e.g. egg or sperm donor, non-paternity)
- •Patient refusal to allow follow-up through the neonatal period and up to age two if selected
- •Participation in the study in a previous pregnancy
- •Insufficient sample for microarray assay
Outcomes
Primary Outcomes
Detection rate of fetal cytogentic abnormalites between microarray copy number analysis and karyotype in prenatal samples
Time Frame: Up to 2.5 years after recruitment of 4400 patients.
This is a blinded prospective comparison of microarray copy number analysis to metaphase karyotyping for the detection of common fetal cytogentic abnormalites
Secondary Outcomes
- The rates of clinically significant copy number variants associated with specific prenatal conditions(Up to 2.5 years after recruitment of 4400 patients.)
- The ability of microarray copy number analysis to identify clinically significant microdeletions and duplications not seen by standard karyotyping(Up to 2.5 years .)