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Updated: Aug 6, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Antenatal genetic counselling: implications for population screening
1Division of Fetomaternal Medicine, Queen's Medical Centre, University Hospital, Nottingham, UK.
Insights
Congenital abnormalities affect a small percentage of newborns but cause significant infant and childhood mortality. Current screening and diagnostic services have limitations in information, counseling, and parental support.
Area of Science:
- Medical Genetics
- Neonatal Care
- Public Health
Background:
- Congenital abnormalities impact infant and childhood mortality and morbidity significantly, despite affecting only 1-2% of newborns.
- Advances in screening and diagnosis have been made due to the prevalence of these conditions.
Purpose of the Study:
- To identify and analyze the limitations in current congenital abnormality screening and diagnostic services.
- To highlight areas for improvement in parental information, counseling, and support.
Main Methods:
- Literature review of current screening and diagnostic protocols.
- Analysis of service delivery models for congenital abnormality detection.
- Examination of parental feedback and support structures.
Main Results:
- Key limitations identified in information provision to parents.
- Inconsistencies in the qualifications and training of counseling personnel.
- Insufficient support systems for parents navigating complex decisions.
Conclusions:
- There is a need to enhance the quality and consistency of information and counseling provided during congenital abnormality screening.
- Improved training and support for healthcare professionals are crucial.
- Strengthening parental support is essential for informed decision-making.
Abstract:
Only 1-2% of newborns have a congenital abnormality, yet it is responsible for the much greater proportion of mortality and morbidity in infancy and in childhood as well as during pregnancy. Because of this prevalence, there have been many developments in screening and diagnosis of congenital abnormality. Yet there are a number of limitations about how the screening and diagnostic service is currently operated. These limitations centre on the information that is provided, who undertakes the counselling, and their training and support provided to parents in making important decisions.
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