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Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQCML, AEDP consensus recommendations.
Prieto, Belén; Adiego, Begoña; Suela, Javier; Martín, Inmaculada; Santacruz, Belén; García-Planells, Javier; Gil, Mar; González, Concepción.
Afiliación
  • Prieto B; Department of Clinical Biochemistry, Hospital Universitario Central de Asturias, Department of Biochemistry and Molecular Biochemistry, University of Oviedo, Avda Roma s/n - 33010 Oviedo, Spain.
  • Adiego B; SEQCML Spanish Society of Laboratory Medicine, Barcelona, Spain.
  • Suela J; Unit of Gynecology and Obstetrics, Hospital de Móstoles, Universidad Juan Carlos I, Madrid, Spain.
  • Martín I; SESEGO Group of Ultrasound - Spanish Society of Gynecology and Obstetrics, Barcelona, Spain.
  • Santacruz B; Laboratory of Genomics, NIMGenetics, Madrid, Spain.
  • García-Planells J; AEDP Spanish Association of Prenatal Diagnosis, Barcelona, Spain.
  • Gil M; Department of Clinical Biochemistry Hospital Son Espases, Palma de Mallorca, Spain.
  • González C; SEQCML Spanish Society of Laboratory Medicine, Barcelona, Spain.
  • Eva Barrenechea; Unit of Gynecology and Obstetrics, Hospital Universitario de Torrejón, Madrid, Spain.
Adv Lab Med ; 1(3): 20200043, 2020 Oct.
Article en En, Es | MEDLINE | ID: mdl-37361494
In this paper, the scientific societies SEGO, SEQCML and AEDP provide a series of consensus-based recommendations for prenatal screening and diagnosis of genetic abnormalities. A set of evaluation indicators are also proposed as a means to improve the quality of the biochemical, ultrasound, and genetic processes involved in prenatal screening and diagnosis of genetic anomalies. Some recommendations are also proposed in relation to invasive prenatal diagnostic procedures, more specifically regarding sample collection and genetic testing. The purpose of this proposal is to unify performance criteria and quality indicators at national level, with audits performed on a regular basis. It is strongly recommended that a national prenatal screening strategy be established and provided with the resources necessary to evaluate the performance of quality indicators and diagnostic procedures under the supervision of health authorities. Protocols should be revised on a regular basis to consider the incorporation of new cost-effective technologies.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Guideline / Screening_studies Idioma: En / Es Revista: Adv Lab Med Año: 2020 Tipo del documento: Article País de afiliación: España Pais de publicación: Alemania

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Guideline / Screening_studies Idioma: En / Es Revista: Adv Lab Med Año: 2020 Tipo del documento: Article País de afiliación: España Pais de publicación: Alemania