Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies

Author:

Hui Lisa1234ORCID,Ellis Katie5,Mayen Dora6,Pertile Mark D.7ORCID,Reimers Rebecca89ORCID,Sun Luming10ORCID,Vermeesch Joris11ORCID,Vora Neeta L.12ORCID,Chitty Lyn S.1314ORCID

Affiliation:

1. Department of Obstetrics and Gynaecology University of Melbourne Parkville Victoria Australia

2. Reproductive Epidemiology Group Murdoch Children's Research Institute Parkville Victoria Australia

3. Department of Perinatal Medicine Mercy Hospital for Women Heidelberg Victoria Australia

4. Department of Obstetrics and Gynaecology Northern Health Epping Victoria Australia

5. Illumina ANZ Sydney New South Wales Australia

6. Genetics Clinic Hospital Angeles Lomas Estado de Mexico Mexico

7. Victorian Clinical Genetics Services Murdoch Children's Research Institute Parkville Victoria Australia

8. San Diego Perinatal Center Rady Children's Hospital San Diego California USA

9. Scripps Research Institute La Jolla California USA

10. Department of Fetal Medicine & Prenatal Diagnosis Center Shanghai Key Laboratory of Maternal Fetal Medicine Shanghai First Maternity and Infant Hospital School of Medicine Tongji University Shanghai China

11. Centre for Human Genetics KU Leuven Leuven Belgium

12. Department of Obstetrics and Gynecology University of North Carolina at Chapel Hill Division of Maternal Fetal Medicine Chapel Hill North Carolina USA

13. Great Ormond Street NHS Foundation Trust London UK

14. UCL Great Ormond Street Institute of Child Health London UK

Abstract

Key points What is already known about this topic? In 2015, the International Society for Prenatal Diagnosis (ISPD) published its first position statement on the use of non‐invasive prenatal testing (NIPT) to screen for aneuploidy. Widespread uptake across the globe and subsequent published research has shed new light on test performance and implementation issues. What does this study add? This new position statement replaces the 2015 statement with updated information on the current technologies, clinical experience, and implementation practices. As an international organization, ISPD recognizes that there are important population‐specific considerations in the organization of prenatal screening and diagnosis. These opinions are designed to apply to high income settings where prenatal screening for aneuploidy is an established part of antenatal care. This position statement is not a clinical practice guideline but represents the consensus opinion of the current ISPD Board based on the current state of knowledge and clinical practice.

Publisher

Wiley

Subject

Genetics (clinical),Obstetrics and Gynecology

Reference116 articles.

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