Recommendations for the use of microarrays in prenatal diagnosis
Med Clin (Barc). 2017 Apr 7;148(7):328.e1-328.e8.
doi: 10.1016/j.medcli.2016.12.028.
Epub 2017 Feb 21.
[Article in
English,
Spanish]
Authors
Javier Suela
1
, Isabel López-Expósito
2
, María Eugenia Querejeta
3
, Rosa Martorell
4
, Esther Cuatrecasas
5
, Lluis Armengol
6
, Eugenia Antolín
7
, Elena Domínguez Garrido
8
, María José Trujillo-Tiebas
9
, Jordi Rosell
4
, Javier García Planells
10
, Juan Cruz Cigudosa
11
; Grupo de diagnóstico prenatal del INGEMM; Grupo de genética prenatal del Hospital Clínico San Carlos
Affiliations
- 1 Laboratorio de Genómica, NIMGenetics, Madrid, España. Electronic address: jsuela@nimgenetics.com.
- 2 Sección de Citogenética, Centro de Bioquímica y Genética Clínica, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, España.
- 3 Unidad de Genética Celular, Policlínica Gipuzkoa, San Sebastián, España.
- 4 Secció Genètica, Hospital Universitari Son Espases, Palma de Mallorca, España.
- 5 Departament de Citogenètica, Anàlisis Mediques Barcelona (AMBAR), Barcelona, España.
- 6 Departamento de Investigación y Desarrollo, Laboratorio Genomics, Barcelona, España.
- 7 Sección de Ecografía y Medicina Fetal, Departamento de Obstetricia y Ginecología, Hospital Universitario La Paz, Madrid, España.
- 8 Unidad de Diagnóstico Molecular, Fundación Rioja Salud, CIBIR, Logroño, España.
- 9 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.
- 10 Instituto de Medicina Genómica, Paterna, Valencia, España.
- 11 Grupo de Citogenética Molecular, Centro Nacional de Investigaciones Oncológicas, Madrid, España.
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»).
Keywords:
Diagnóstico genético; Diagnóstico prenatal; Genetic diagnosis; Microarray; Prenatal diagnosis.
Copyright © 2017 Elsevier España, S.L.U. All rights reserved.
Publication types
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Consensus Development Conference
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Practice Guideline
MeSH terms
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Congenital Abnormalities / diagnosis*
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Congenital Abnormalities / genetics
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Female
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Genetic Diseases, Inborn / diagnosis*
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Genetic Diseases, Inborn / genetics
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Genetic Markers
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Humans
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Oligonucleotide Array Sequence Analysis*
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Pregnancy
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Prenatal Diagnosis / methods*