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Updated: Oct 10, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Integrating genomics into pre-pregnancy and pregnancy care in general practice: Practical tools from the PRECISE
Talia Gusen1, Meredith Makeham2, Alan Ma3
1BSci (Hons), MGC, Associate Genetic Counsellor, Department of Clinical Genetics, Sydney Children@s Hospital Network, Westmead, Sydney, NSW; Clinical Associate Lecturer, Specialty of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW.
Background:
Genomic medicine is increasingly relevant in general practice. It supports more informed reproductive decision making and strengthens the way practitioners assess risk and guide patients through complex information.
Objective:
The aim of this article is to introduce tools and resources from the Practitioner Readiness, Education and Capabilities, with Implementation Science Evaluation (PRECISE) Project that help general practitioners offer genetic screening and counselling during pre-pregnancy and pregnancy. These resources aim to streamline assessment, improve communication and support consistent and efficient practice across settings.
Discussion:
The article describes how reproductive genetic carrier screening and non-invasive prenatal testing or screening fit into routine care. It highlights Continuing Professional Development-accredited modules, point-of-care guides and clear referral pathways that support confident use in busy clinics. It also outlines simple steps for discussing results, managing uncertainty and coordinating referrals to genetics services when required.
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