| Trial name or title |
Oral presentation's title: Noninvasive prenatal diagnosis of fetal aneuploidy by massively parallel sequencing of maternal plasma DNA. |
| Target condition and reference standard(s) |
Target conditions: T21, T18, T13 and SCA.
Reference standard: fetal karyotype. |
| Index and comparator tests |
gNIPT by MPSS on Illumina GAIIx/HiSeq 2000 sequencer.
Cutpoint: positive if t score < ‐4.
Commercial test: BGI's test. |
| Starting date |
Not reported. |
| Contact information |
Fang Chen, Beijing Genomics Institute, Shenzhen, China |
| Aim to study |
To assess gNIPT with ccfDNA performance on fetal aneuploidies. |
| Funding source or sponsor of the study |
Not reported. |
| Information about the authors contacted |
BGI was contacted on: 19 May 2016.
No reply received from the author. |
| Notes |
Cohort of 5268 pregnant women. They successfully identified 62 cases of T21, 40 cases of T18, 3 cases of T13, 13 cases of SCA. In a cohort of karyotyping cases, the sensitivity and specificity of the aneuploidy fetus detection was 100% and 100%, respectively. |
