Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting

Idit Maya, Bella Davidov, Liron Gershovitz, Yael Zalzstein, Ellen Taub, Justine Coppinger, Lisa G. Shaffer, Mordechai Shohat

Research output: Contribution to journalArticlepeer-review

Abstract

Objective: Array-based comparative genomic hybridization (aCGH) is a new technique for detecting submicroscopic deletions and duplications. There is limited information regarding its use in the prenatal setting. Here, we present our experience of 269 prenatal aCGHs between 2006 and 2009. Method: The indications for testing were fetal anomalies on ultrasound (U/S), advanced maternal age (AMA), family history of a disorder of unknown etiology, parental concern, abnormal routine karyotype and abnormal serum biochemical screening for common fetal aneuploidies. Results: Of 15 cases with a known abnormal karyotype, 11 had a normal aCGH. This enabled us to reassure the families and the pregnancies were continued. The remaining four showed an abnormal aCGH, confirming the chromosomes were unbalanced, and were terminated. Of 254 cases with a normal karyotype, 3 had an abnormal aCGH and were terminated. Overall, new clinically relevant results were detected by aCGH in 18 cases, providing additional information for prenatal genetic counseling and risk assessment. Conclusion: Our results suggest that prenatal aCGH should be offered particularly in cases with abnormal U/S. We found the rate of detecting an abnormality by aCGH in low-risk pregnancies was 1:84, but larger studies will be needed to expand our knowledge and validate our conclusions.

Original languageEnglish
Pages (from-to)1131-1137
Number of pages7
JournalPrenatal Diagnosis
Volume30
Issue number12-13
DOIs
StatePublished - Dec 2010

Keywords

  • Comparative genomic hybridization
  • Prenatal diagnosis

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