Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis (Microarray)
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ClinicalTrials.gov Identifier: NCT01279733 |
Recruitment Status :
Completed
First Posted : January 19, 2011
Last Update Posted : August 22, 2012
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Condition or disease | Intervention/treatment |
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Genetic Diseases | Genetic: Microarray analysis |
Specifically, the aims are as follows:
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Demonstrate the performance of microarray analysis as a clinical method for prenatal cytogenetic diagnosis with regard to:
- Accuracy in the detection of the common autosomal and sex chromosomal aneuploid (trisomies, 13,18,21, 45,X, 47,XXY, etc.)
- 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.
- Evaluation of the utility of microarray in specific clinical scenarios such as ultrasound detection of congenital anomalies and fetal growth disorders.
- 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.
- Evaluate the feasibility and cost-effectiveness of using microarrays as a primary prenatal diagnostic tool.
- Evaluate approaches to integrate microarray into clinical prenatal cytogenetic diagnostic practice.
- 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 |
Actual Enrollment : | 4450 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Official Title: | Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis |
Study Start Date : | October 2008 |
Actual Primary Completion Date : | October 2011 |
Actual Study Completion Date : | October 2011 |
Group/Cohort | Intervention/treatment |
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Microarray Analysis |
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. |
- 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
- The ability of microarray copy number analysis to identify clinically significant microdeletions and duplications not seen by standard karyotyping [ Time Frame: Up to 2.5 years . ]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
- The rates of clinically significant copy number variants associated with specific prenatal conditions [ Time Frame: Up to 2.5 years after recruitment of 4400 patients. ]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.
Biospecimen Retention: Samples With DNA
- Additional 15 ml of amniotic fluid (minimum 10 ml) for amniocentesis
- Blood sample (10 ml) from each parent will be obtained in case of a need to test for suspected familial copy number variants (CNVs) or discrepant results, and also to evaluate for maternal cell contamination (patient's blood sample).
- 10 ml of amniotic fluid with suspended cells, (minimum 7 ml)
- 5 mg of villi (minimum of 2mg)

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Ages Eligible for Study: | 18 Years and older (Adult, Older Adult) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01279733
United States, New York | |
Columbia University Medical Center | |
New York, New York, United States, 10032 |
Principal Investigator: | Ronald Wapner, MD | Columbia University |
Responsible Party: | Ronald J Wapner, MD, Professor of Obstetrics & Gynecology, Columbia University |
ClinicalTrials.gov Identifier: | NCT01279733 |
Other Study ID Numbers: |
AAAC8036 1R01HD055651-01 ( U.S. NIH Grant/Contract ) |
First Posted: | January 19, 2011 Key Record Dates |
Last Update Posted: | August 22, 2012 |
Last Verified: | August 2012 |
microarray |
Genetic Diseases, Inborn |