Recently, a "Hua Da Cancer" not only made the term NIPT (non-invasive prenatal genetic testing technology) quickly enter the public eye, but in the constant fermentation of public opinion, the term became more and more demonized.
To this end, Yiou Da Health interviewed Professor and Chief Physician of the First Maternal and Infant Health Hospital affiliated to Tongji University and Duan Tao, Director of Shanghai Prenatal Diagnostic Center. He believes that the incident revealed that the public's perception of several prenatal testing methods still has some misunderstandings. Therefore, the information description for testing products should be more transparent, and it is necessary to pay more attention to the popular science popularization of new technologies.
Prenatal testing
Recently, due to the tragedy of a maternal and child health care center in Changsha, Hunan, NIPT technology was instantly pushed to the high point of public opinion. What is the nature of NIPT technology, which screening links are involved, and how to interpret the test results? Duan Tao tells billions of health, due to the complexity of the technology, there are still many doctors who know this.
In the past, prenatal testing has been using traditional serological Down's screening and has been widely promoted as a first-line screening program. In addition to this, the non-invasive test corresponds to amniocentesis, an invasive diagnostic method with a 3% to 5% abortion rate. Nowadays, after a large number of clinical tests, NIPT technology can effectively monitor children with Down syndrome and quickly sell their seats because of its targeted targeting.
NIPT technology is a mature practice of gene sequencing technology in women's prenatal examination. The tester only needs to extract a little more than 5ml of pregnant women's peripheral blood, and can be based on the free DNA of the fetus in the blood sample. Through a new generation of high-throughput sequencing combined with biological information analysis, it can be concluded that the fetus suffers from chromosome aneuploidy disease. Risk rate. The target of the investigation is the three pairs of chromosomes with the highest distortion rate: trisomy 21, trisomy 18 and trisomy 13, of which the detection rate of trisomy 21 is more than 99%.
Technical advantages
In November 2016, the National Health and Family Planning Commission issued the “Notice of the Office of the National Health and Family Planning Commission on Standardizing and Orderly Conducting Prenatal Screening and Diagnosis of Fetal Free DNA in Pregnant Women's Peripheral Bloodâ€, eliminating the clinical pilot restrictions on non-invasive birth control, meaning The government's recognition of high-throughput sequencing for non-invasive production testing applications.
Professor Duan Tao said that NIPT is indeed a very good screening method compared with serological indicators and ultrasound soft indicators. Its advantages are mainly reflected in the high detection rate, low rate of missed diagnosis, low screening positive rate, in addition, the technology can also reduce the number of unnecessary amniocentesis.
Under normal circumstances, the detection rate of Trisomy 21 in the mid-pregnancy is 60%-75%, the screening positive rate is 5%, and the positive predictive value is 2%. The detection rate of NIPT for trisomy 21 was 99%, the positive rate of screening was 0.2%, and the positive predictive value was 50%-80%.
Cognitive Misunderstanding: Once and for all detection
In contrast, these percentage-based detection accuracy means that the continuous development of detection technology is to maximize the detection efficiency, but still can not ignore the existence of risk.
For example, prenatal testing results may be false negative or false positive, that is, the prenatal testing results of pregnant women do not match the actual situation after the baby is born. Duan Tao said that this phenomenon is due to the detection technology itself has a certain risk of misdiagnosis, on the other hand, because the physiological or pathological changes in the detection process will also affect its detection results.
Duan Tao pointed out that in fact, there are other DNA fragments in the peripheral blood of pregnant women. If the pregnant woman has a tumor, the mother part may be regarded as a part of the fetus during the test. The test is positive, and eventually the test result is inconsistent with the actual condition of the fetus. The detection problem may lead to misjudgment of the final test result.
In addition, Duan Tao also said that even in the case of amniocentesis, the birth of a defective baby cannot be avoided. Because most of the monogenic hereditary diseases rely on gene chip and exon sequencing or even genome-wide sequencing to find out. Amniocentesis is only a karyotype analysis. If you don't pass gene chip, exon sequencing or whole genome sequencing, you can't avoid the birth of a baby with genetic defects.
Information transparency
The vast majority of the public about the NIPT technical considerations mentioned above are not clear to the public, but if doctors want to explain the pregnant women who come to see the doctor one-on-one, it will cost a lot of time and the doctor's work efficiency will be greatly reduced. Therefore, the popularization of science popularization for the general public is particularly important.
Duan Tao told billions of health, the media is an important means of communication in the Internet era. At present, Duan Tao's Shanghai First Maternal and Infant Health Hospital mainly lets pregnant women who come to consult to understand NIPT technology and related precautions by writing articles and making videos. If the above methods still do not eliminate confusion for the patients, the hospital will gather them and unify them.
In addition, Duan Tao also stressed that the testing company needs to disclose the true data of the detection products in terms of high detection rate, low missed diagnosis rate and low screening positive rate. At the same time, the data related to the product should be supported by evidence-based medical data. Only by publicly and transparently communicating the data to the medical institution and the majority of patients can the patient not be misunderstood or mourned.
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