Non-invasive prenatal screening in practice: an audit of clinical management in high-probability cases

Non-invasive prenatal screening (NIPS) is widely recommended for fetal chromosomal aneuploidies. This study describes patterns of NIPS requests, including follow-up and post-test genetic counselling, and discusses how these compare to clinical guidelines in Australia and New Zealand. We performed a retrospective analysis of increased-probability NIPS cases reported by a private pathology provider from April 2022 to May 2024. Descriptive statistics were used to summarise referral patterns, the type of anomaly detected, uptake of complimentary genetic counselling, and diagnostic follow-up. Of the 255 cases, 193 (76%) were referred by general practitioners. Complimentary professional genetic counselling was performed in 45 cases (18%). Type of diagnostic testing and uptake of genetic counselling differed based on the type of anomaly reported and referrer speciality. Patients receiving increased-probability results received clinical follow-up that was broadly consistent with guidelines; however, genetic counselling uptake was low. This indicates some referrers may be unaware of the availability of genetic counselling.