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Delivering an accredited non‐invasive prenatal diagnosis service for monogenic disorders and recommendations for best practice
Author(s) -
Jenkins Lucy A.,
Deans Zandra C.,
Lewis Celine,
Allen Stephanie
Publication year - 2018
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5197
Subject(s) - prenatal diagnosis , medicine , accreditation , cell free fetal dna , service (business) , clinical practice , best practice , intensive care medicine , safer , identification (biology) , medical physics , family medicine , medical education , pregnancy , fetus , computer science , biology , genetics , botany , economy , management , computer security , economics
Abstract 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.