Prenatal Cytogenetic Diagnosis by Array-Based Copy Number Analysis


Status: Active, not recruiting
Keywords: Microarray Testing
IRB Number: 00038553
Specialty: Maternal-Fetal Medicine
Sub Specialties:

Brief Summary

The main objective of this multi-center collaborative study is to evaluate the accuracy, efficacy and clinical advantages of prenatal diagnosis using array-based copy number (microarray) analysis as compared with conventional cytogenetic (CC) analysis using microscopy.

Women will be approached for recruitment at the time of their scheduled amniocentesis or CVS. In the case of amniocentesis - a small amount of additional fluid will be drawn for microarray analysis. In the case of CVS procedure - no additional chorionic villi will be collected (anything not needed for clinical analysis will be used). The standard testing will be performed. In addition, microarray analysis will be performed and compared with the standard results.

Some children will undergo developmental tests up through 24 months, based on the agreement between the clinical test and microarray testing.

Principal Investigator: Bob Silver
Department: Obstetrics And Gynecology (Dept)
Co Investigator:

Contact Information

Name:Denise Lamb
Phone: 8015871180

Inclusion Criteria

1. 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
2. Karyotyping to be performed at Genzyme Genetics Cytogenetics Laboratory
3. Trained study personnel available.
4. Presenting at pre-specified sites using Genzyme Genetics for routine prenatal diagnostic services
5. Women 18 years and older.

Exclusion Criteria