Prenatal screening for aneuploidy in the Australian Public Hospital System; a Non-Invasive Prenatal Screening Test (NIPT) feasibility study.

NIPT blood test Intervention: NIPT blood test by trained staff in Perinatal Ultrasound Department, Web-based counselling through an iPAD not requiring a login. Face-to-face counselling by a licenced genetic counsellor affiliated with the Perinatal Ultrasound Department at Nepean Hospital All participants who undergo the NIPT test will undergo the NIPT blood test on one occasion. Order: The NT bloods (PAPP-A and free beta-HCG will have been collected around 10 weeks of gestation in most patients that visit our unit). Patient will come in for NT (11w3d-13w6d) screening. Before their scan they will be asked to participate in the trial. If they agree, Written informed consent is obtained they will receive counselling (either face-to-face or on iPAD). After the counselling they will get to decide whether they want NT only of NIPT bloods collected as well. They will have the ultrasound and blood test for NIPT on the same day they have their genetic counselling in the Perinatal Ultrasound Department. Secondary intervention: Participants will be randomly allocated to either face-to-face counselling or web-based counselling 12 minutes +/-. Both only performed on one occasion on the same day as the NT scan. Location: Perinatal Ultrasound Department. Counselling: Face-to-face counselling will be done by a licenced genetic counselling and will cover all the topics also covered in the counselling video. Web-based: adaptation of: https://www.genea.com.au/genesyte-portal/patient/pre-video-questionnaire-complete Brief description: *All face to face Genetic Counselling will be performed by an Associate Genetic Counsellor or Genetic Counsellor according to HGSA Guidelines for Genetic Counselling. Genetic Counselling is non-directional such that no advice is given about what the patient should do, rather an information session to consider all options. *The consultation will cover the chance of chromosome anomalies based on age-related risk, what chromosomes are, the potential implications of a chromosome abnormality. *Prenatal diagnosis options available (including all screening tests such as Combined First Trimester Screening, Nuchal Translucency alone and NIPT, all invasive tests: Chorionic Villus Sampling and amniocentesis, timing of results both for gestation and how long to results reporting). *The limitations and benefits of each test will be discussed so that the patient is able to make an informed choice about which (if any) of the tests are best for her. The consultation will discuss the sensitivity and specificity of the testing for the major chromosome anomalies, risks of false positives, false negatives, and unreportable results. *Reminder that patients can refuse any and all testing and should consider what she would do with an abnormal result. *Considerations for the patient if the NIPT result is abnormal (recommendation to proceed to invasive testing via the Perinatal Ultrasound Dept. where care will be handled by the Specialist team). Advised that any abnormal results will be given by the Specialist team following the usual appropriate protocol at Nepean Hospital. Full discussions about the particular chromosome abnormality suspected will be discussed at the time of results. *Considerations for the patient if the NIPT result is normal; ultrasound still recommended as per usual pregnancy care, chance of false negatives. Advised results will be communicated via phone by the Associate Genetic Counsellor. *Contact details for the Associate Genetic Counsellor in case of any further questions/concerns. *The web-based counselling will follow the identical format following a script using the same diagrams to help explain concepts.