Fetal Aneuploidies (Trisomy 21, Trisomy 18 and Trisomy 13) Detection
Capitalbio provides types of Fetal Aneuploidies (Trisomy 21, Trisomy 18 and Trisomy 13) Detection. As a prenatal screening test, NIPT can de
Trisomy 21 (Down syndrome), trisomy 18 (Edward's syndrome), and trisomy 13 (Patau's syndrome) are the three most prevalent autosomal aneuploid diseases. The incidence in newborns is 1/(600-800), 1/(3500-8000), and 1/(7000-20000). Intellectual disability, developmental delay, multiple deformities, reproductive disorders, etc. are common in children.
Using a fetal chromosome aneuploidy (T21, T18, T13) detection kit (semiconductor sequencing), doctors can reliably identify these conditions in unborn children (trisomy 21, trisomy 18, and trisomy 13).
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%.
Test Type
Sensitivity
Specificity
Positive predictive value
Negative predictive value
Trisomy 21
99.80%
99.98%
96.42%
100.00%
Trisomy 18
98.84%
99.98%
87.08%
100.00%
Trisomy 13
100%
99.96%
32.08%
100%
Total
99.61%
99.91%
89.74%
100.00%
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
Workflow of Fetal Aneuploidies (Trisomy 21, Trisomy 18 and Trisomy 13) Detection
Workflow of Fetal Aneuploidies (Trisomy 21, Trisomy 18 and Trisomy 13) Detection
Target Population of Fetal Aneuploidies (Trisomy 21, Trisomy 18 and Trisomy 13) Detection
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.
Specification of Fetal Aneuploidies (Trisomy 21, Trisomy 18 and Trisomy 13) Detection
Order information
Cat. No.
Description
Specification
S30030
Fetal Aneuploidies (Trisomy 21, Trisomy 18, and Trisomy 13) Detection Kit (Semiconductor Sequencing)
160 tests/kit
S10020
Nucleic Acid Extraction/Purification Kit
96 tests/kit
S10010
Sequencing Reaction Universal Kit (Semiconductor Sequencing)
4C8R/kit