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ARS Home » Plains Area » Houston, Texas » Children's Nutrition Research Center » Research » Publications at this Location » Publication #224630
Title: Array-based comparative genomic hybridization (array CGH) for rapid prenatal diagnosis of cytogenetic abnormalities

Author
item Van Den Veyver, Ignatia
item SAHOO, T - BAYLOR COLLEGE MED
item SHAW, C - BAYLOR COLLEGE MED
item KANG, S - BAYLOR COLLEGE MED
item DEL GAUDIO, D - BAYLOR COLLEGE MED
item DARILEK, S - BAYLOR COLLEGE MED
item PATEL, A - BAYLOR COLLEGE MED
item WARD, P - BAYLOR COLLEGE MED
item LI, J - BAYLOR COLLEGE MED
item CHINAULT, C - BAYLOR COLLEGE MED
item ROA, B - BAYLOR COLLEGE MED
item LUPSKI, J - BAYLOR COLLEGE MED
item BEAUDET, A - BAYLOR COLLEGE MED
item CHEUNG, S - BAYLOR COLLEGE MED
item ENG, C - BAYLOR COLLEGE MED

Submitted to: American Society of Human Genetics
Publication Type: Abstract Only
Publication Acceptance Date: 4/15/2006
Publication Date: 10/9/2006
Citation: Van den Veyver, I.B., Sahoo, T., Shaw, C., Kang, S., Del Gaudio, D., Darilek, S., Patel, A., Ward, P., Li, J., Chinault, C., Roa, B., Lupski, J., Beaudet, A., Cheung, S., Eng, C. 2006. Array-based comparative genomic hybridization (array CGH) for rapid prenatal diagnosis of cytogenetic abnormalities [abstract]. American Society of Human Genetics, 2006 Annual Meeting, October 9-13, 2006, New Orleans, Louisiana. p. 27.

Interpretive Summary:

Technical Abstract: We have shown in a prospective validation study that an array CGH test was highly accurate for rapid detection of chromosomal aneuploidies and deletions or duplications on fetal DNA samples in a clinical prenatal diagnostic setting. Here we present our updated "post-validation phase" experience with this test. All women underwent chorionic villus sampling (CVS) or amniocentesis for standard indications, received genetic counseling, and provided informed consent. DNA was prepared directly or after whole genome amplification (WGA) from CVS and amniotic fluid (AF) and tested for maternal cell contamination (MCC). Back-up cell cultures were established and standard karyotypes performed for all samples. A blood sample from both parents was requested to determine the origin of copy number variants (CNV) detected in the fetus if needed. After initial validation on 98 samples, 45 additional clinical cases have been referred. Of these 45, there were 36 AF, 23 of which were analyzed after WGA only, 5 after WGA with confirmation on cell culture DNA. For 8 AF, only cultured-cell analysis was requested. There were 9 CVS, 3 were analyzed after WGA, 3 on direct DNA preparations and 3 on cell culture DNA. We detected one trisomy 21 and identified a marker to have originated from chromosome 12. There was 100% concordance with the karyotype. We also found one level II mosaic trisomy 11 that most likely arose during extended cell culture. There was no MCC. We detected 9 benign CNVs, inherited from a phenotypically normal parent (overall CNV rate was 19/143 or 13.2%). The combined data on all samples establishes a detection rate of 7/143 (4.9%) for cytogenetic abnormalities. In 90% the result was available before the karyotype. In conclusion, our data confirms that array CGH yields highly accurate results on CVS and AF in = 2 weeks in most cases. Further large-scale studies are needed to assess whether array CGH can replace karyotyping and FISH for rapid and expanded prenatal detection of chromosomal imbalances.