GeneMind has carried out pre-clinical research and clinical verification of NIPT with a number of research centers led by the Obstetrics and Gynecology Hospital of Zhejiang University School of Medicine. A total of 5894 samples were tested in preclinical studies, of which 5892 cases were verified by the second-generation platform, and 2 cases were in full compliance with the gold standard.
A total of 5894 samples were tested in preclinical studies, of which 5892 cases were verified by the NGS platform, and 2 cases were in full compliance with the gold standard.
Among the two inconsistent samples, one was detected as trisomy 8 with Z value 17 on the GeneMind GenoCare platform. And it was detected as the gray area of chromosome 8 with Z value 4.38 on the one NGS platform. No abnormality was found and the result was negative by amniotic fluid karyotype count 30 cells. In the same period, the pregnant woman found the fetal spinal deformity and hydronephrosis after four-dimensional ultrasound examination, which was suspected of trisomy 8. After re-examination of amniotic fluid karyotype count 72 cells in hospital, an abnormal karyotype of trisomy 8 was found.
Clinical trial research: A total of 1021 samples were tested, including 1 case of T13, 3 cases of T18, 32 cases of T21, and 986 negative controls. The coincidence rate between the single-molecule sequencing platform and clinical trials reached 100%.