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...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
De Gruyter
2020-07-01
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| Series: | Advances in Laboratory Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1515/almed-2020-0043 |
| _version_ | 1797795080772255744 |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-13T03:12:28Z |
| format | Article |
| id | doaj.art-fa7a012747bf43c1ae1f2b8e19852c3c |
| institution | Directory Open Access Journal |
| issn | 2628-491X |
| language | English |
| last_indexed | 2024-03-13T03:12:28Z |
| publishDate | 2020-07-01 |
| publisher | De Gruyter |
| record_format | Article |
| series | Advances in Laboratory Medicine |
| spelling | doaj.art-fa7a012747bf43c1ae1f2b8e19852c3c2023-06-26T10:46:03ZengDe GruyterAdvances in Laboratory Medicine2628-491X2020-07-01136698110.1515/almed-2020-0043Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQCML, AEDP consensus recommendationsPrieto Belén0Adiego Begoña1Suela Javier2Martín Inmaculada3Santacruz Belén4García-Planells Javier5Gil Mar6González Concepción7Eva Barrenechea8Department of Clinical Biochemistry, Hospital Universitario Central de Asturias, Department of Biochemistry and Molecular Biochemistry, University of Oviedo, Avda Roma s/n – 33010Oviedo, SpainUnit of Gynecology and Obstetrics, Hospital de Móstoles, Universidad Juan Carlos I, Madrid, SpainLaboratory of Genomics, NIMGenetics, Madrid, SpainDepartment of Clinical Biochemistry Hospital Son Espases, Palma de Mallorca, SpainUnit of Gynecology and Obstetrics, Hospital Universitario de Torrejón, Madrid, SpainInstituto de Medicina Genómica, IMEGEN, Valencia, SpainUnit of Gynecology and Obstetrics, Hospital Universitario de Torrejón, Madrid, SpainDepartment of Clinical Analysis Hospital Universitario Virgen de la Macarena, Seville, SpainDepartment of Clinical Analysis, Hospital Universitario de Galdakao, Galdakao, SpainIn 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.https://doi.org/10.1515/almed-2020-0043circulating cell-free dnacombined screeninginvasive testsnuchal translucency |
| spellingShingle | 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 Advances in Laboratory Medicine circulating cell-free dna combined screening invasive tests nuchal translucency |
| title | 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_short | 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 |
| topic | circulating cell-free dna combined screening invasive tests nuchal translucency |
| url | https://doi.org/10.1515/almed-2020-0043 |
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