"No need to wait for test results to be sent to the US, pregnant mothers can now have expanded NIPT testing right in Vietnam"
That is the information that Doctor I Nguyen Van Thong - Head of the Department of Genetics, Hung Vuong Hospital shared on the sidelines of the 2022 Vietnam-France Obstetrics and Gynecology Conference taking place on October 9 and 10, 2022. In order to better clarify the advantages of the NIPT v2 testing method, the reporter had an interview with Dr. Nguyen Van Thong.
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FETAL DEFECTS LEAVE A BURDEN ON THE MOTHER'S FAMILY AND SOCIETY. IN RECENT YEARS, MANY NEW PRENATAL SCREENING DIAGNOSTIC METHODS HAVE BEEN APPLIED. HAVE THE RATE OF FETAL DEFECTS ACCORDINGLY REDUCED, DOCTOR THONG?
DR. Thong: The rate of birth defects in Vietnam is about 3%, on average, for every 100 children born, there will be about 3 children with birth defects. Another information from the General Department of Population and Family Planning, each year in Vietnam there are more than 40,000 children with birth defects, accounting for 1.5-2% of newborns. The number of newborn deaths due to birth defects is about more than 1,700 cases.
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Previously, prenatal screening was mainly done by biochemical tests as well as Double test and Triple test, detecting 60-90%. Recently, with the technical development of new generation gene sequencing, non-invasive prenatal screening tests were born. This test detects cell-free fragments of fetal DNA in the pregnant woman's blood with an outstanding detection ability of up to 99.7%.
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This means that with this test, for every 1,000 fetuses with DOWN syndrome, 997 babies can be detected. This is quite an impressive number in medical screening.
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CAN THE DOCTOR BE MORE CLEARLY STATED OF THE METHODS OF PRENATAL SCREENING, HOW EFFECTIVE IS NIPT AND WHICH GROUPS OF PREGNANT WOMEN IS IT PERFORMED?
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DR. Thong: According to recommendations of the Ministry of Health as well as reputable associations around the world, NIPT testing can be performed in pregnant women after biochemical screening at high risk or medium risk. In addition, pregnant women can perform NIPT as a first-line screening test without needing biochemical tests.
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Here, I would like to note to pregnant mothers: we need to clearly understand the nature of the tests - these tests are performed on DNA originating from the placenta, not from DNA from the fetus. Therefore, there may be a situation where there is genetic incompatibility between the placenta and the fetus, also known as localized placental mosaicism. When the NIPT test result is positive, the chance of the pregnancy being infected is about 50-50. Therefore, we need invasive testing - amniocentesis or placental biopsy to confirm.
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When the NIPT result is negative, this means the risk to the fetus is very low but the fetus may still have abnormalities, such as abnormalities due to fetal mosaicism or other abnormalities beyond the scope of testing. NIPT or fetal structural abnormalities that are not related to genetic structural abnormalities. In addition, some cases of twins including one stillbirth can affect the NIPT test results, or the mother has chromosomal abnormalities or tumors that can also affect the test results. NIPT test.
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AND WILL ILLUMINA'S NIPT V2 TEST REMEDY THE DISADVANTAGES OF THE NIPT TEST THAT WAS DEPLOYED IN THE RECENT 3-4 YEARS? WHAT'S DIFFERENT ABOUT THE NIPTV2 TEST? BESIDES THE ADVANTAGES AS THE DOCTOR JUST MENTIONED, THERE ARE SURELY THERE ARE DISADVANTAGES OF THE REGULAR NIPT TEST, IN WHICH MANY PREGNANT MOTHERS ARE STILL WORRIED FOR THE SAFETY OF THE FETAL?
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DR. Thong: Admittedly, besides the advantages, the NIPT test also has some disadvantages such as high cost compared to routine biochemical tests. This is a test that is defined as screening and not a diagnostic test, so our doctors cannot use the NIPT test to make heavy decisions (terminating pregnancy).
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Another limitation is that the NIPT test cannot screen for rare chromosomal abnormalities other than chromosomes 13, 18, 21, or structural abnormalities, microdeletion abnormalities, or single-gene diseases. Diagnostic NIPT testing remains low. Notably, NIPT testing is still limited in multiple pregnancies.
