What is the accuracy of non-invasive DNA

Pregnant mothers are very worried about the health of their fetuses, especially those with fetal deformities. It is very painful for the baby to come into this world, and it also delays their family life and affects the family's financial situation. Therefore, many pregnant mothers undergo non-invasive DNA testing during pregnancy. So, what is the accuracy of non-invasive DNA?

What is the accuracy of non-invasive DNA

Minimally invasive prenatal genetic testing is based on collecting peripheral blood (5ml) from pregnant women, obtaining mineral DNA, using a new generation of high-throughput sequencing technology, and combining biological feature analysis to obtain the risk of the fetus suffering from sex chromosome aneuploidy (21-trisomy also known as Down syndrome, 18-trisomy, 13-trisomy). This method is best used for on-site sampling in early and late pregnancy, and has the characteristics of minimally invasive sampling, no risk of miscarriage, high sensitivity, and high accuracy.

Basic principles of testing

Studies have found that the fetus's mineral DNA can be detected in the pregnant woman's peripheral blood starting from the 4th week of pregnancy. As the pregnancy progresses, the mineral content of the fetus's DNA also increases. After 12 weeks of pregnancy, by extracting peripheral blood from the pregnant woman and obtaining fetal mineral DNA from it, using the next-generation high-throughput sequencing technology and combining bioinformatics analysis methods, it is possible to accurately determine whether the fetus has a chromosomal disease.

Technical advantages

The traditional serological screening method calculates the results based on the main parameters of the pregnant woman's age, gestational age, hormones, weight, etc. It has a high false positive rate and a great risk of non-detection.

Traditional prenatal testing uses invasive sampling methods, such as chorionic villus sampling, amniocentesis, and fetal umbilical vein puncture. Although these operations can diagnose whether the fetus suffers from chromosomal aneuploidy, the puncture wound may cause risks such as infection and a certain probability of miscarriage.

In 1997, biologists discovered fetal mineral DNA fragments in the blood of pregnant women. Based on this discovery, minimally invasive prenatal genetic testing came into being. This technology only requires collecting 5 mL of venous blood from pregnant women, from which mineral DNA from the blood is extracted, and the next-generation high-throughput sequencing technology is used, combined with biological feature analysis, to obtain the risk rate of fetal sex chromosome aneuploidy.

New items for prenatal check-up

Within 12 weeks: Registration is done in the early stages of pregnancy. The relevant tests include: routine blood test, routine urine test, gynecological examination, and syphilis screening;

12-15 weeks: Do the initial Down syndrome screening on an empty stomach, and also do a regular nutrient element test and urine iodine test to see what nutrients you are lacking and whether you are iodine deficient, so as to supplement as soon as possible;

16-18 weeks: First preliminary check, i.e. pregnancy check (weight, blood pressure, heart rate), blood type (AB0, RH), blood routine test, urine routine test, secretion, liver function test, two-to-half test, kidney function test, electrocardiogram, chlamydia formation, B-ultrasound;