CHROMOSOMAL DISORDERS TESTS - OTHER

Primary DI

06974968583292

Basic UDI-DI Code

B-06974968583292

Reference

L000017

Device Types

None provided

Regulation

Eu Ivdd

Classification

Eu Ivd General

Status

On The Market

Manufacturer

GeneMind Biosciences Co., Ltd.

Chromosomal aneuploidy refers to an increase or decrease in the number of one or several chromosomes in a cell relative to the normal 46 human chromosomes. Among them, trisomy 21 syndrome (also known as Down syndrome, congenital fool or Down syndrome), trisomy 18 syndrome (also known as Edwards syndrome) and trisomy 13 syndrome (also known as Patau syndrome) ) is the most common clinical chromosomal aneuploidy disease, and its neonatal morbidity is about 1/700, 1/6000, and 1/10000, respectively. Most of the children have severe intellectual disability and organ malformation. The current clinical prenatal screening methods include combined ultrasound and serological screening in early pregnancy, but this method has a false positive rate of about 3.2% to 5.6%, and the corresponding detection rate varies from 60 to 80%. The gold standard for prenatal diagnosis of fetal chromosomal abnormalities is pre-interventional prenatal diagnosis, which is to obtain corresponding cells through invasive villus sampling, amniocentesis and percutaneous umbilical puncture, and use cell biology methods to nucleate fetal chromosomes. type analysis. The detection results of this technology are accurate, but the detection cycle is long, and general invasive sampling can lead to water breaking, amniotic inflammation, respiratory distress and even the risk of miscarriage. This product is based on maternal plasma combined with single-molecule gene sequencer to detect fetal chromosomal aneuploidy, such as 21-trisomy, 18-trisomy and 13-trisomy, for prenatal screening purposes. Diagnostic gold standard confirmation.

Other on-the-market devices with the same classification (Eu Ivd General) and regulation (EU IVDD).