NCT01279733

Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 4,450 (actual)
• Sponsor: Columbia University · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

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.

Conditions

• Genetic Diseases

Interventions

Type	Name	Description
GENETIC	Microarray analysis	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.

Timeline

• Start date: 2008-10-01
• Primary completion: 2011-10-01
• Completion: 2011-10-01
• First posted: 2011-01-19
• Last updated: 2012-08-22

Locations

1 site across 1 country: United States