Non-Invasive Prenatal Diagnosis Using Cell-Free Fetal DNA Technology: Applications and Implications

Abstract

Cell-free fetal DNA and RNA circulating in maternal blood can be used for the early non-invasive prenatal diagnosis (NIPD) of an increasing number of genetic conditions, both for pregnancy management and to aid reproductive decision-making. Here we present a brief review of the scientific and clinical status of the technology, and an overview of key ethical, legal and social issues raised by the analysis of cell-free fetal DNA for NIPD. We suggest that the less invasive nature of the technology brings some distinctive issues into focus, such as the possibility of broader uptake of prenatal diagnosis and access to the technology directly by the consumer via the internet, which have not been emphasised in previous work in this area. We also revisit significant issues that are familiar from previous debates about prenatal testing. Since the technology seems to transect existing distinctions between screening and diagnostic tests, there are important implications for the form and process involved in obtaining informed consent or choice. This analysis forms part of the work undertaken by a multidisciplinary group of experts which made recommendations about the implementation of this technology within the UK National Health Service.

Non-Invasive Prenatal Testing for Down's Syndrome: Pregnant Women's Views and Likely Uptake

“…Concerns around the potential for NIPT to erode informed consent and become established as routine practice were endorsed by women in this study [26,28,29,30]. The main reason behind this concern related to the ease and frequency with which blood tests were conducted during pregnancy.…”

Non-invasive Techniques of Fetal Diagnosis and Therapy in Perinatal Medicine

“…Fetal 2D, 3D and 4D ultrasound are presented in the topics of this special issue. Noninvasive prenatal test (NIPT) studies maternal peripheral blood to detect fetal DNA in the blood to diagnose fetal 13, 18 and 21 trisomies in noninvasive technique to the fetus with high sensitivity and high negative predictive value [10].…”

Applications of Cell-Free Fetal DNA in Maternal Serum

“…Attention has focused on aneuploidy, which is a notable cause of reproductive failure and congenital disease with unique remark to common chromosome disorders, such as trisomy 21 Down, trisomy 13 Patau and trisomy 18 Edward's syndromes as well as the sex chromosome aneuploidies XXY Klinefelter's, XYY, XXX, and X0 Turner's syndromes. 77 The most conventional invasive prenatal diagnostic technique for any aneuploidy is supplied by CVS or amniocentesis followed by karyotyping, although more recently, the easiest process of detecting an aneuploidy is to evaluate the relative amount of the target chromosome by selecting a region located on the chromosome and amplifying it by real-time PCR assay, and juxtaposing the product with that of other regions on different chromosome. 78 The majority common known aneuploidy consistent with life is Down's syndrome (DS).…”