Fetal Aneuploidies (Trisomy 21, Trisomy 18 and Trisomy 13) Detection

Features of Fetal Aneuploidies (Trisomy 21, Trisomy 18, and Trisomy 13) Detection

• According to data from 190,277 NIPT clinical trials

• Once proven effective in clinical studies【1】: in total, NIPT has a sensitivity of 99.61% for T21, T18, and T13 and a specificity of 99.91%. Overall PPV was 89.74% and NPV was 99.99%.

The concentration of fetal cell-free DNA is raised from 11.3% to 22.6% through novel experimental techniques.[1] Hu H, Liu H, Peng C, et al. Clinical Experience of Non-Invasive Prenatal Chromosomal Aneuploidy Testing in 190,277 Patient Samples[J]. Current Molecular Medicine, 2016, 16(8)：759-766

• Women who are pregnant and whose fetal chromosomal aneuploidy risk value on a serological screen is between the high-risk cut-off value and 1/1000;

• Those who cannot undergo interventional prenatal diagnosis due to certain conditions (such as a history of abortion, a current infection with a chronic pathogen, a blood type other than Rh-positive, etc.);

• Patients who consult after 20+6 weeks of pregnancy have missed the optimal window for serological screening, but still need an assessment of their risk for trisomy 21, trisomy 18, and trisomy 13.

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