title: Recommendations for the use of microarrays in prenatal diagnosis.
abstract: Microarray technology, recently implemented in international prenatal diagnosis systems, has become one of the main techniques in this field in terms of detection rate and objectivity of the results. This guideline attempts to provide background information on this technology, including technical and diagnostic aspects to be considered. Specifically, this guideline defines: the different prenatal sample types to be used, as well as their characteristics (chorionic villi samples, amniotic fluid, fetal cord blood or miscarriage tissue material); variant reporting policies (including variants of uncertain significance) to be considered in informed consents and prenatal microarray reports; microarray limitations inherent to the technique and which must be taken into account when recommending microarray testing for diagnosis; a detailed clinical algorithm recommending the use of microarray testing and its introduction into routine clinical practice within the context of other genetic tests, including pregnancies in families with a genetic history or specific syndrome suspicion, first trimester increased nuchal translucency or second trimester heart malformation and ultrasound findings not related to a known or specific syndrome. This guideline has been coordinated by the Spanish Association for Prenatal Diagnosis (AEDP, «Asociación Española de Diagnóstico Prenatal»), the Spanish Human Genetics Association (AEGH, «Asociación Española de Genética Humana») and the Spanish Society of Clinical Genetics and Dysmorphology (SEGCyD, «Sociedad Española de Genética Clínica y Dismorfología»).
authors.affiliation: Laboratorio de Genómica, NIMGenetics, Madrid, España. Electronic address: jsuela@nimgenetics.com.
authors.forename: Javier
authors.initials: J
authors.lastname: Suela
authors.affiliation: Sección de Citogenética, Centro de Bioquímica y Genética Clínica, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, España.
authors.forename: Isabel
authors.initials: I
authors.lastname: López-Expósito
authors.affiliation: Unidad de Genética Celular, Policlínica Gipuzkoa, San Sebastián, España.
authors.forename: María Eugenia
authors.initials: ME
authors.lastname: Querejeta
authors.affiliation: Secció Genètica, Hospital Universitari Son Espases, Palma de Mallorca, España.
authors.forename: Rosa
authors.initials: R
authors.lastname: Martorell
authors.affiliation: Departament de Citogenètica, Anàlisis Mediques Barcelona (AMBAR), Barcelona, España.
authors.forename: Esther
authors.initials: E
authors.lastname: Cuatrecasas
authors.affiliation: Departamento de Investigación y Desarrollo, Laboratorio Genomics, Barcelona, España.
authors.forename: Lluis
authors.initials: L
authors.lastname: Armengol
authors.affiliation: Sección de Ecografía y Medicina Fetal, Departamento de Obstetricia y Ginecología, Hospital Universitario La Paz, Madrid, España.
authors.forename: Eugenia
authors.initials: E
authors.lastname: Antolín
authors.affiliation: Unidad de Diagnóstico Molecular, Fundación Rioja Salud, CIBIR, Logroño, España.
authors.forename: Elena
authors.initials: E
authors.lastname: Domínguez Garrido
authors.affiliation: Servicio de Genética, Fundación Jiménez Díaz, Madrid, España; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, España.
authors.forename: María José
authors.initials: MJ
authors.lastname: Trujillo-Tiebas
authors.affiliation: Secció Genètica, Hospital Universitari Son Espases, Palma de Mallorca, España.
authors.forename: Jordi
authors.initials: J
authors.lastname: Rosell
authors.affiliation: Instituto de Medicina Genómica, Paterna, Valencia, España.
authors.forename: Javier
authors.initials: J
authors.lastname: García Planells
authors.affiliation: Grupo de Citogenética Molecular, Centro Nacional de Investigaciones Oncológicas, Madrid, España.
authors.forename: Juan Cruz
authors.initials: JC
authors.lastname: Cigudosa
mesh_terms: D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics; D005819:Genetic Markers; D006801:Humans; D020411:Oligonucleotide Array Sequence Analysis; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D005819:Genetic Markers
keywords: Diagnóstico genético; Diagnóstico prenatal; Genetic diagnosis; Microarray; Prenatal diagnosis