What is non-invasive prenatal genetic testing?
Non-invasive prenatal genetic testing can help to check whether the fetus has any problems, which is beneficial to both women and the fetus. So what is non-invasive prenatal genetic testing?
Non-invasive prenatal genetic testing is a prenatal screening method with high accuracy, and the results are divided into high risk and low risk. Non-invasive prenatal genetic testing only needs to extract pregnant women's venous blood, sequence free DNA fragments (including fetal free DNA) in pregnant women's peripheral plasma by using a new generation of DNA sequencing technology, and analyze the biological information of the sequencing results to obtain the genetic information of the fetus, so as to detect whether the fetus has three chromosome diseases.
Among them, congenital achondroplasia is an autosomal dominant genetic dwarf caused by endochondral ossification defect, which is characterized by relatively normal limbs and trunk, and is often complicated with other genetic diseases or other malformations of musculoskeletal system and serious complications of respiratory and nervous systems. The incidence in China is 18/ 100000.
What can non-invasive prenatal genetic testing detect?
Although non-invasive prenatal genetic testing is needed during pregnancy, many people don't know what it is used for, so what can non-invasive prenatal genetic testing check?
At present, non-invasive prenatal genetic testing in China mainly detects three common chromosomal diseases: Down syndrome (T2 1 chromosomal abnormality), Edwards syndrome (T 18 chromosomal abnormality) and Patau syndrome (T 13 chromosomal abnormality).
We should know that at present, monogenic genetic diseases refer to genetic diseases controlled by a pair of alleles, with more than 6,600 kinds, increasing at the rate of 10-50 kinds every year. Monogenic diseases pose a great threat to human health. In China, thalassemia, Duchenne muscular dystrophy, hemophilia A and congenital achondroplasia are common single-gene genetic diseases.
Why do you want to do non-invasive prenatal genetic testing
Noninvasive prenatal genetic testing may not be done by every pregnant woman, but most of them will. So many women want to know why non-invasive prenatal genetic testing is needed.
During the period of 1997, scientists found a certain proportion of fetal free DNA fragments in the peripheral blood of pregnant women, and the non-invasive prenatal gene detection technology was based on this discovery. By collecting the venous blood of pregnant women 10ml, and using the new generation high-throughput sequencing combined with bioinformatics method, this technology can analyze the fetal DNA information in the blood of expectant mothers, and judge whether the baby has the risk of chromosome aneuploidy (2 1- trisomy, also known as Down syndrome, 18- trisomy, 13- trisomy).
You know, our government spends about 8.2 billion yuan on medical and social relief for Down syndrome and children every year. Most of the surviving birth defects are lifelong disability or mental retardation, which cannot be cured, thus causing serious economic burden to society, and the psychological burden and mental pain caused to families cannot be measured by money. So don't neglect prenatal examination.
Is it meaningful to do non-invasive prenatal genetic testing?
Many women will do non-invasive prenatal genetic testing when they are pregnant, but the point is, is it meaningful to do non-invasive prenatal genetic testing?
The probability of non-invasive prenatal gene detection of deformed children is particularly high. Although it should be noted that the accuracy of prenatal detection of non-invasive genes is high, it can not be used as the final diagnostic standard, and amniocentesis can make the final diagnosis.
Non-invasive prenatal genetic testing is only aimed at the detection of abnormal chromosome number, and can not replace amniocentesis or B-ultrasound. In a word, all necessary examinations during pregnancy are very important and cannot replace each other. It is impossible to know all the problems of the fetus through a certain examination.