Prenatal screening programmes have been critiqued for their routine implementation according to clinical rationale without public debate. A new approach, non-invasive prenatal diagnosis (NIPD), promises diagnosis of fetal genetic disorders from a sample of maternal blood without the miscarriage risk of current invasive prenatal tests (e.g. amniocentesis). Little research has investigated the at...

As new technologies enable the development of non-invasive prenatal diagnosis (NIPD) for cystic fibrosis (CF), research examining stakeholder views is essential for the preparation of implementation strategies. Here, we compare the views of potential service users with those of health professionals who provide counselling for prenatal tests. A questionnaire incorporating a discrete choice exper...

AIM To estimate the level of awareness of prenatal screening (PS) and explore the underlying demographic, lifestyle and medical history parameters of Greek and non-Greek pregnant women undergoing prenatal diagnosis. PATIENTS AND METHODS A structured questionnaire was answered by 354 women at the time of receiving the results of invasive prenatal testing. Summary statistics and multiple logist...

OBJECTIVE Accurate prenatal diagnosis of genetic conditions can be challenging and usually requires invasive testing. Here, we demonstrate the potential of next-generation sequencing (NGS) for the analysis of cell-free DNA in maternal blood to transform prenatal diagnosis of monogenic disorders. METHODS Analysis of cell-free DNA using a PCR and restriction enzyme digest (PCR-RED) was compared...