International scientific publications        11 апреля 2018        140         Comments Off on Delivering an accredited noninvasive prenatal diagnosis service for monogenic disorders and recommendations for best practice

Delivering an accredited noninvasive prenatal diagnosis service for monogenic disorders and recommendations for best practice

The identification of cell-free fetal DNA circulating in maternal blood combined with technologi-cal 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 ser-vice for a range of inherited disorders. The results from NIPD do not require confirmation by inva-sive 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 de-livering an NIPD service from an accredited laboratory. © 2017 John Wiley & Sons, Ltd.


Lucy A. Jenkins Zandra C. Deans Celine Lewis Stephanie Allen
Prenatal diagnosis, Volume38, Issue1, January 2018, pages 44−51
DOI: 10.1002/pd.5197

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