Delivering an accredited non‐invasive prenatal diagnosis service for monogenic disorders and recommendations for best practice

• Published in: Prenatal diagnosis Vol. 38; no. 1; pp. 44 - 51
• Main Authors: Jenkins, Lucy A., Deans, Zandra C., Lewis, Celine, Allen, Stephanie
• Format: Journal Article
• Language: English
• Published: England Wiley Subscription Services, Inc 01.01.2018
• Subjects: Aneuploidy; Best practice; Blood circulation; Deoxyribonucleic acid; Diagnosis; Disorders; DNA; Female; Fetuses; Genetic Diseases, Inborn - diagnosis; Hereditary diseases; Humans; Maternal Serum Screening Tests - methods; Medical diagnosis; Medical personnel; Practice Guidelines as Topic; Pregnancy; Prenatal development; Prenatal diagnosis; Sequence Analysis, DNA
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.5197

The identification of cell‐free fetal DNA circulating in maternal blood combined with technological developments, in particular next‐generation sequencing, is enabling the development of safer prenatal diagnosis. While this technology has been widely applied as a highly sensitive screening test for aneuploidy, there has been relatively little clinical application for the diagnosis of monogenic disorders. In the UK, we have established non‐invasive prenatal diagnosis (NIPD) as a clinical service for a range of inherited disorders. The results from NIPD do not require confirmation by invasive testing and are welcomed by patients and health professionals alike. Here, we describe the technical approaches used, current practice and outline recommendations for best practice when delivering an NIPD service from an accredited laboratory. © 2017 John Wiley & Sons, Ltd. What's already known about this topic? Identification of cell‐free fetal DNA in the maternal circulation has enabled the development of safer prenatal diagnosis, reducing the number of invasive tests required. To date, in clinical practice, this technology largely has been used as a highly sensitive screening test for aneuploidy. What does this study add? Development of an accredited laboratory service for non‐invasive prenatal diagnosis is possible, allowing families at risk of inherited disorders access to safe, early prenatal diagnosis, but it raises challenges and, for many conditions, is expensive and labour intensive. Development of recommendations and guidelines for laboratory standards is required for integration into routine clinical practice, along with quality assurance and training procedures for health professionals. As the use of this technology expands, ethical issues will arise with regard to what tests should be offered and to whom. Further exploration of these issues is required with the development of guidelines for use.