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.
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.
Study Type
OBSERVATIONAL
Enrollment
4,450
Microarray performed on prenatal specimen: Fluorescence in-situ hybridization (FISH) or other standardized tests such as qPCR or MLPA will be performed on the fetal sample to confirm abnormal MA findings of known and unknown clinical significance which are discordant with CC findings, including anomalies normally detected by karyotyping. Microarray analysis of DNA from parental blood samples will be used to determine whether CNVs detected in a fetal sample are also present in a healthy parent, in which case no further evaluation will take place, moreover any finding in a fetus which is duplicated in a parental microarray is considered to be confirmed.
Columbia University Medical Center
New York, New York, United States
Detection rate of fetal cytogentic abnormalites between microarray copy number analysis and karyotype in prenatal samples
This is a blinded prospective comparison of microarray copy number analysis to metaphase karyotyping for the detection of common fetal cytogentic abnormalites
Time frame: 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
This outcome will identify the frequency of clinically significant microdeletions and microduplications that are identified on microarray CNA that were not seen on the clinical karyotype. Only copy number variants over 1 Mb in the backbone and those in predesignated critical regions will be included
Time frame: Up to 2.5 years .
The rates of clinically significant copy number variants associated with specific prenatal conditions
THe frequency of clinically significant copy number variants in cases with fetal anomalies, advanced maternal age, positve serum screening, and fetal growth disorders will be determined.
Time frame: Up to 2.5 years after recruitment of 4400 patients.
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