Current controversies in prenatal diagnosis 1: NIPT for chromosome abnormalities should be offered to women with low a priori risk

• Published in: Prenatal diagnosis 2015-01, Vol.35 (1), p.8-14
• Main Authors: Van Lith, Jan M. M., Faas, Brigitte H. W., Bianchi, Diana W.
• Format: Article
• Language: English
• Subjects: Chromosome Disorders - blood; Chromosome Disorders - diagnosis; Chromosome Disorders - etiology; Down Syndrome - blood; Down Syndrome - diagnosis; Female; Humans; Infant, Newborn; Pregnancy; Prenatal Diagnosis - methods; Risk Factors
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.4530

In its successful annual cycle of controversies and debates, the International Society of Prenatal Diagnosis and Therapy once again addressed non‐invasive prenatal testing (NIPT) by following up on the 2013 controversy, ‘Should non‐invasive DNA testing be the standard screening test for Down syndrome in all pregnant women’? with the proposition, ‘NIPT for chromosomel abnormalities should be offered to women with low a priori risk’. © 2014 John Wiley & Sons, Ltd. What's already known about this topic?Non‐invasive prenatal testing (NIPT) is here to stay and its scope will broaden.Many studies have validated the robustness of NIPT, allowing clinical implementation.Routine use of NIPT in prenatal screening of whole chromosome aneuploidy has been described in many articles, and several position statements and management guidelines have been published. What does this study add?This study is the reflection of a debate held at the 18th conference of the International Society for Prenatal Diagnosis in Brisbane.The debaters address important implementation issues such as test performance, ‘what to test for’, test failure, health outcomes, counseling, and costs.