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Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQCML, AEDP consensus recommendations
- Source :
- Advances in Laboratory Medicine, Vol 1, Iss 3, Pp 669-81 (2020), Scopus
- Publication Year :
- 2020
- Publisher :
- De Gruyter, 2020.
-
Abstract
- 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.
- Subjects :
- 0301 basic medicine
medicine.medical_specialty
030219 obstetrics & reproductive medicine
invasive tests
Obstetrics
business.industry
Medicine (miscellaneous)
030105 genetics & heredity
circulating cell-free dna
Circulating Cell-Free DNA
Education
03 medical and health sciences
Medical Laboratory Technology
0302 clinical medicine
Prenatal screening
Nuchal translucency
medicine
Medical technology
R855-855.5
business
combined screening
nuchal translucency
Subjects
Details
- Language :
- English
- Volume :
- 1
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Advances in Laboratory Medicine
- Accession number :
- edsair.doi.dedup.....d2a77a3aae5c1a56a713a780a80c795f