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Vol. 89. Num. 1.01 July 2018
Pages 1-66
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Vol. 89. Num. 1.01 July 2018
Pages 1-66
Original Article
DOI: 10.1016/j.anpede.2017.07.009
Comparative genomic hybridisation as a first option in genetic diagnosis: 1000 cases and a cost–benefit analysis
Array CGH como primera opción en el diagnóstico genético: 1.000 casos y análisis de coste-beneficio
Neus Castells-Sarreta,b,
Corresponding author

Corresponding author.
, Anna M. Cueto-Gonzáleza,c, Mar Borreganc, Fermina López-Grondonaa, Rosa Mirób, Eduardo Tizzanoa,d, Alberto Plajaa,b
a Àrea de Genètica Clínica i Molecular, Hospital Vall d’Hebron, Barcelona, Spain
b Departament de Biologia Cel·lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain
c Facultat de Medicina, Departament de Ciències Morfològiques, Universitat Autònoma de Barcelona, Bellaterra, Barcelona, Spain
d CIBERER, Barcelona, Spain
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Tables (2)
Table 1. Diagnostic detection rate achieved with aCGH for each of the phenotypes under study. Comparison with data from the literature.
Table 2. Proportion of patients that received a diagnosis by means of aCGH by number of phenotypic abnormalities presented by the patient.
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Background and objective

Conventional cytogenetics diagnoses 3–5% of patients with unexplained developmental delay/intellectual disability and/or multiple congenital anomalies. The Multiplex Ligation-dependent Probe Amplification increases diagnostic rates from between 2.4 and 5.8%. Currently the comparative genomic hybridisation array or aCGH is the highest performing diagnostic tool in patients with developmental delay/intellectual disability, congenital anomalies and autism spectrum disorders. Our aim is to evaluate the efficiency of the use of aCGH as first-line test in these and other indications (epilepsy, short stature).

Patients and method

A total of 1000 patients referred due to one or more of the abovementioned disorders were analysed by aCGH.


Pathogenic genomic imbalances were detected in 14% of the cases, with a variable distribution of diagnosis according to the phenotypes: 18.9% of patients with developmental delay/intellectual disability; 13.7% of multiple congenital anomalies, 9.76% of psychiatric pathologies, 7.02% of patients with epilepsy, and 13.3% of patients with short stature. Within the multiple congenital anomalies, central nervous system abnormalities and congenital heart diseases accounted for 14.9% and 10.6% of diagnoses, respectively. Among the psychiatric disorders, patients with autism spectrum disorders accounted for 8.9% of the diagnoses.


Our results demonstrate the effectiveness and efficiency of the use of aCGH as the first line test in genetic diagnosis of patients suspected of genomic imbalances, supporting its inclusion within the National Health System.

Comparative genomic hybridisation array
Microdeletion syndrome
Intellectual disability
Global developmental delay
Autism spectrum disorders
Congenital malformation
Fundamento y objetivo

La citogenética convencional detecta un 3-5% de los pacientes con retraso global del desarrollo/discapacidad intelectual y/o malformaciones congénitas. La amplificación de sondas múltiples dependientes de ligación permite incrementar la tasa diagnóstica entre 2,4-5,8%. Actualmente, los arrays de hibridación genómica comparada o aCGH son la herramienta diagnóstica con mayor rendimiento en estos pacientes, en malformaciones congénitas y trastornos del espectro autista. El objetivo del presente trabajo ha sido evaluar la eficiencia del uso del aCGH como técnica de primera línea diagnóstica en estas y otras indicaciones (epilepsia, talla baja).

Pacientes y método

Se ha estudiado a 1.000 pacientes afectados por las patologías mencionadas mediante la técnica de aCGH.


Se detectaron desequilibrios de efecto patogénico en un 14% de los pacientes (140/1.000). Según el fenotipo, se diagnosticaron un 18,9% de los pacientes afectados de retraso global del desarrollo/discapacidad intelectual; un 13,7% de las malformaciones congénitas; un 9,76% de las patologías psiquiátricas, un 7,02% de los casos con epilepsia y un 13,3% de los pacientes con talla baja. Dentro de las malformaciones congénitas destacan las del sistema nervioso central con un 14,9% y las cardiopatías congénitas con un 10,6% de diagnósticos. En las patologías psiquiátricas destacan los pacientes con trastornos del espectro autista, con un 8,9% de diagnósticos.


Nuestros resultados demuestran la efectividad y la eficiencia de la utilización del aCGH como test de primera línea en el diagnóstico genético de los pacientes con sospecha de desequilibrios genómicos. Todo ello avala su inclusión dentro del Sistema Nacional de Salud.

Palabras clave:
Array de hibridación genómica comparada
Síndrome de microdeleción
Discapacidad intelectual
Retraso global del desarrollo
Trastornos del espectro autista
Malformación congénita


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