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Prenatal screening and diagnosis of genetic abnormalities: SEGO, SEQCML, AEDP consensus recommendations
Belén Prieto1,2, Begoña Adiego3,4, Javier Suela5,6
1Department of Clinical Biochemistry, Hospital Universitario Central de Asturias, Department of Biochemistry and Molecular Biochemistry, University of Oviedo, Avda Roma s/n - 33010 Oviedo, Spain.
Insights
This paper presents consensus recommendations for prenatal screening and diagnosis of genetic abnormalities, proposing quality indicators to unify national standards and improve prenatal care.
Area of Science:
- Medical Genetics
- Reproductive Medicine
- Public Health
Background:
- Prenatal screening and diagnosis of genetic abnormalities are critical components of reproductive healthcare.
- Current practices may lack standardized performance criteria and quality indicators across different regions.
- The need for unified national guidelines is evident to ensure consistent and high-quality prenatal care.
Purpose of the Study:
- To establish consensus-based recommendations for prenatal screening and diagnosis of genetic abnormalities.
- To propose a set of evaluation indicators for biochemical, ultrasound, and genetic testing processes.
- To unify national performance criteria and quality indicators for prenatal genetic diagnostics.
Main Methods:
- Development of consensus-based recommendations by scientific societies (SEGO, SEQCML, AEDP).
- Proposal of specific evaluation indicators for prenatal screening and diagnostic procedures.
- Inclusion of recommendations for invasive prenatal diagnostic procedures, focusing on sample collection and genetic testing.
Main Results:
- A comprehensive set of recommendations for prenatal screening and diagnosis has been formulated.
- Proposed quality indicators aim to enhance the evaluation of biochemical, ultrasound, and genetic testing.
- Guidelines for invasive procedures, including sample handling and genetic analysis, are provided.
Conclusions:
- A unified national prenatal screening strategy is strongly recommended.
- Regular audits and revisions of protocols are essential to incorporate cost-effective technologies.
- Implementation of these recommendations and indicators will improve the quality and consistency of prenatal genetic care nationwide.
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.
