Non-invasive Prenatal Testing: Technologies, Clinical Assays and Implementation Strategies for Women’s Healthcare Practitioners

The field of prenatal genetic testing has exploded with new non-invasive technologies and test options in the past several years. It is challenging for women’s healthcare providers to keep up with the multitude of publications and provide patients with the most accurate and up-to-date information possible regarding prenatal testing. In this article, we examine the sequencing technologies that provide the framework for non-invasive prenatal testing (NIPT) and review the major North American NIPT clinical validation studies published in 2011 and 2012. This paper also compares and contrasts the commercially available non-invasive prenatal tests in the United States, discusses clinical implementation recommendations from professional societies and highlights considerations for genetic counseling.