Genetic Diseases Clinical Trial
Official title:
Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis
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.
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Observational Model: Cohort, Time Perspective: Prospective
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