Using population-based data to predict the impact of introducing noninvasive prenatal diagnosis for Down syndrome

Non‐invasive prenatal testing for trisomy 21 based on analysis of cell‐free fetal DNA circulating in the maternal plasma

“…The main objective was to test the robustness of the MPSS technique described in two seminal scientific publications . The learning curve was steep and our results compare favorably with previously published analytical validation studies . This brings strong evidence in favor of the robustness of NIPT, although significant limitations remain to be addressed: Although there were no false positive or false negative results, this is likely to be related to the small sample size.…”

“…8,9 Non-invasive prenatal testing (NIPT) has thus been developed through several validation studies over the past few years, mainly for early identification of women carrying a fetus with trisomy 21. [8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24] A fair number of studies published to date have been conducted prior to invasive testing in women at high risk for fetal trisomy 21. These studies were funded and/or performed by profit-making organizations and using patented and protected techniques.…”

A single center’s experience with noninvasive prenatal testing

“…[10][11][12] The impact on total numbers of serum screens and invasive diagnostics tests is not yet known, but, over the study period, based on our single-institution experience, a steady increase in the number of patients undergoing NIPT, with a significant decline in the rates of amniocentesis and all invasive procedures, was observed. These findings are comparable to those obtained from the study of Chetty et al 13 in examining the uptake of NIPT.…”

From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges

“…If NIPT of Down's syndrome achieves diagnostic accuracy, the cost of testing could be offset by a reduction or elimination of these invasive procedures. Using population-based data from Victoria, Australia, Susman et al 106 investigated the impact of changing from the current screening algorithms to a one-stage noninvasive approach. Their results showed that there would be an 84% reduction in the number of invasive procedures, with an additional 7% of cases of Down's syndrome being detected, albeit with an accompanying reduction in the number of other abnormalities detected.…”