Introduction: Benefits of Prenatal Genetic Diagnosis Beyond the Option of Termination For several decades, prenatal genetic testing was available to pregnant women in three different situations. Traditional karyotyping was offered to a large group of women at increased risk for…
Introduction Adverse pregnancy outcomes are a major cause of the global burden of disease. Many of these outcomes, such as fetal growth restriction (FGR), preeclampsia, and placental abruption, are related to placental dysfunction. These complications can have profound effects on…
Introduction: The Changing Landscape of Prenatal Diagnosis In recent years, increased interest in noninvasive prenatal testing (NIPT) methods led to the commercialization and clinical implementation of NIPT based on the analysis of “fetal” cell-free DNA (cfDNA) isolated from maternal blood…
Acknowledgments With thanks to Elizabeth Young (Clinical Scientist, West Midlands Regional Genetics Laboratory) for her input in the section on cfDNA-based (noninvasive) prenatal testing. Funding Sources Elizabeth Quinlan-Jones is funded through the Department of Health, Wellcome Trust, Health Innovation Challenge…
Introduction Systematic reviews have demonstrated that noninvasive prenatal testing (NIPT) based on sequencing of cell-free DNA in maternal plasma is a highly effective screening test for Down's syndrome (trisomy 21) . It can also be used to screen for Patau…
Introduction Cell-free DNA-based prenatal testing (further: cfDNA testing) is a new technology that may both be used as a diagnostic test in the context of prenatal diagnosis of monogenetic disorders and as a second or first tier test in the…
Introduction Cell-Free DNA-Based NIPT: A New Test in an Old Debate Discussions on ethical and social issues have accompanied the emergence of prenatal testing and screening since the 1970s. Developments in prenatal diagnosis and screening as well as the ethical…
To place in context the decisional support needs women and their partners may have that are specific to cfDNA NIPT, it is helpful to first describe the pre-cfDNA NIPT screening landscape. Prior to the introduction of commercial cfDNA NIPT in…
Cell-Free DNA-Based Prenatal Testing as a Genetic Test in Laboratories Cell-free DNA-based prenatal testing is a screening test that estimates the risk of fetal aneuploidy (trisomy 21, 18, and 13) by analyzing cell-free DNA (cfDNA) circulating in the maternal plasma…
Introduction External Quality Assessment (EQA), which is also referred to as proficiency testing (PT) in some countries, is a means of assessing clinical analytical and interpretation performance with interlaboratory comparison and against international standards (ISO). EQA allows an independent appraisal…