Title |
Recomendaciones para el uso de microarrays en el diagnóstico prenatal
|
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Published in |
Medicina Clínica (ScienceDirect), February 2017
|
DOI | 10.1016/j.medcli.2016.12.028 |
Pubmed ID | |
Authors |
Javier Suela, Isabel López-Expósito, María Eugenia Querejeta, Rosa Martorell, Esther Cuatrecasas, Lluis Armengol, Eugenia Antolín, Elena Domínguez Garrido, María José Trujillo-Tiebas, Jordi Rosell, Javier García Planells, Juan Cruz Cigudosa, Grupo de diagnóstico prenatal del INGEMM, Grupo de genética prenatal del Hospital Clínico San Carlos |
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»). |
X Demographics
Geographical breakdown
Country | Count | As % |
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United States | 1 | 33% |
Spain | 1 | 33% |
Unknown | 1 | 33% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 3 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 37 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 8 | 22% |
Student > Bachelor | 8 | 22% |
Other | 4 | 11% |
Student > Ph. D. Student | 2 | 5% |
Student > Master | 2 | 5% |
Other | 4 | 11% |
Unknown | 9 | 24% |
Readers by discipline | Count | As % |
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Biochemistry, Genetics and Molecular Biology | 11 | 30% |
Medicine and Dentistry | 8 | 22% |
Nursing and Health Professions | 2 | 5% |
Immunology and Microbiology | 1 | 3% |
Computer Science | 1 | 3% |
Other | 2 | 5% |
Unknown | 12 | 32% |