Recommended practice for laboratory reporting of non‐invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion. (8th June 2017)

• Record Type: Journal Article
• Authors: Deans, Zandra C.; Allen, Stephanie; Jenkins, Lucy; Khawaja, Farrah; Hastings, Ros J.; Mann, Kathy; Patton, Simon J.; Sistermans, Erik A.; Chitty, Lyn S.
• Is Part Of: Prenatal diagnosis. Volume 37:Number 7(2017)
• Page Start: 699
• Page End: 704
• Publication Date: 2017-06-08
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.5068
• Languages: English
• ISSNs: 0197-3851

Abstract

Abstract: Objective: Non‐invasive prenatal testing (NIPT) for trisomies 13, 18 and 21 is used worldwide. Laboratory reports should provide clear, concise results with test limitations indicated, yet no national or local guidelines are currently available. Here, we aim to present minimum best practice guidelines. Methods: All laboratories registered in the three European quality assurance schemes for molecular and cytogenetics were invited to complete an online survey focused on services provided for NIPT and non‐invasive prenatal diagnosis. Laboratories delivering NIPT for aneuploidy were asked to submit two example reports; one high and one low risk result. Reports were reviewed for content and discussed at a meeting of laboratory providers and clinicians held at the ISPD 2016 conference in Berlin. Results: Of the 122 laboratories that responded, 50 issued reports for NIPT and 43 of these submitted sample reports. Responses and reports were discussed by 72 attendees at the meeting. Consensus opinion was determined in several areas and used to develop best practice guidelines for reporting of NIPT results. Conclusions: Across Europe, there is considerable variation in reporting NIPT results. Here, we describe minimum best practice guidelines, which will be distributed to European laboratories, and reports audited in subsequent external quality assurance cycles. © 2017 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd. Abstract : What's already known about this topic? In Europe, quality standards for laboratories issuing genetic reports are provided by three schemes who deliver external quality assessment schemes for prenatal genetic testing for both monogenic disorders and cytogenetic tests, including non‐invasive prenatal diagnosis for sex determination. Feedback from participating laboratories indicates a demand for external quality assessment for non‐invasive prenatal testing for the major trisomies. What does this study add? There is considerable variation in laboratory reporting of non‐invasive prenatal testing results. Here, we describe minimum best practice guidelines, which will be distributed to European laboratories, and reports audited in subsequent external quality assessment cycles.