Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQCML, AEDP consensus recommendations

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 gene...

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Autores principales:	Prieto Belén, Adiego Begoña, Suela Javier, Martín Inmaculada, Santacruz Belén, García-Planells Javier, Gil Mar, González Concepción, Eva Barrenechea
Formato:	article
Lenguaje:	EN ES
Publicado:	De Gruyter 2020
Materias:	circulating cell-free dna combined screening invasive tests nuchal translucency Medical technology R855-855.5
Acceso en línea:	https://doaj.org/article/fa7a012747bf43c1ae1f2b8e19852c3c
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spelling	oai:doaj.org-article:fa7a012747bf43c1ae1f2b8e19852c3c2021-12-05T14:10:39ZPrenatal screening and diagnosis of genetic abnormalities: SEGO, SEQCML, AEDP consensus recommendations2628-491X10.1515/almed-2020-0043https://doaj.org/article/fa7a012747bf43c1ae1f2b8e19852c3c2020-07-01T00:00:00Zhttps://doi.org/10.1515/almed-2020-0043https://doaj.org/toc/2628-491XIn 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.Prieto BelénAdiego BegoñaSuela JavierMartín InmaculadaSantacruz BelénGarcía-Planells JavierGil MarGonzález ConcepciónEva BarrenecheaDe Gruyterarticlecirculating cell-free dnacombined screeninginvasive testsnuchal translucencyMedical technologyR855-855.5ENESAdvances in Laboratory Medicine, Vol 1, Iss 3, Pp 669-81 (2020)
institution	DOAJ
collection	DOAJ
language	EN ES
topic	circulating cell-free dna combined screening invasive tests nuchal translucency Medical technology R855-855.5
spellingShingle	circulating cell-free dna combined screening invasive tests nuchal translucency Medical technology R855-855.5 Prieto Belén Adiego Begoña Suela Javier Martín Inmaculada Santacruz Belén García-Planells Javier Gil Mar González Concepción Eva Barrenechea Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQCML, AEDP consensus recommendations
description	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.
format	article
author	Prieto Belén Adiego Begoña Suela Javier Martín Inmaculada Santacruz Belén García-Planells Javier Gil Mar González Concepción Eva Barrenechea
author_facet	Prieto Belén Adiego Begoña Suela Javier Martín Inmaculada Santacruz Belén García-Planells Javier Gil Mar González Concepción Eva Barrenechea
author_sort	Prieto Belén
title	Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQCML, AEDP consensus recommendations
title_short	Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQCML, AEDP consensus recommendations
title_full	Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQCML, AEDP consensus recommendations
title_fullStr	Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQCML, AEDP consensus recommendations
title_full_unstemmed	Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQCML, AEDP consensus recommendations
title_sort	prenatal screening and diagnosis of genetic abnormalities: sego, seqcml, aedp consensus recommendations
publisher	De Gruyter
publishDate	2020
url	https://doaj.org/article/fa7a012747bf43c1ae1f2b8e19852c3c
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Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQCML, AEDP consensus recommendations

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