Diagnostic utility of array-based comparative genomic hybridization (aCGH) in a prenatal setting.
Prenat Diagn
; 30(12-13): 1131-7, 2010 Dec.
Article
en En
| MEDLINE
| ID: mdl-20925131
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 184, but larger studies will be needed to expand our knowledge and validate our conclusions.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
/
Hibridación Genómica Comparativa
Tipo de estudio:
Diagnostic_studies
/
Evaluation_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Año:
2010
Tipo del documento:
Article