How to read VinNIPT results?

Article by Dr. Ly Thi Thanh Ha - Medical Genetics Division, Vinmec High-Tech Center

NIPT, also known as non-invasive prenatal screening test, is recognized by the Vietnamese Ministry of Health for application in clinical practice. NIPT is recommended by the Ministry of Health to use screening in the first trimester of pregnancy, the gestational week to perform the NIPT test should be ≥ 10 weeks after the pregnancy ultrasound results and consulted by a genetic counselor to appropriate indications. This test can replace the PAPP-A and free beta hCG tests or be in addition to the above tests, as the case may be.

2.1 Administrative information Besides the required information such as full name, date of birth, other information such as time of sampling, receipt of samples, analysis of samples, gestational age, number of fetuses and gestational age are also very important. important because VinNIPT is recommended for 10 weeks gestation.
2.2 Result Information There are many different test units on the market that use different technologies and data analysis processes, and therefore the content of the results will also be different.
As mentioned above, at Vinmec VinNIPT test is built and developed based on Verifi® Illumina technology (USA), so the value used for analysis is NCV (other units will use indicators). such as Z-Score or hazard ratio). Accordingly, pregnant women are evaluated based on the NCV value of each chromosome type (chromosome 21, 18, 13) as follows:
Note: With the X and Y sex chromosomes, there is a separate calculation method and gender level. separate cut-off. Depending on the value of NCV X and NCV Y, it will determine the sex of the fetus as well as the type of aneuploidy (XO, XXX, XXY or XYY).

2.3 Information on the conclusions and recommendations of the geneticist In this section, in addition to making conclusions about the level of risk to the fetus based on biological samples for NIPT testing, this is also the necessary information follow-up to ensure a safe pregnancy. Because the VinNIPT test is a screening test, it should be combined with other clinical information. In cases of high risk, the mother will be recommended to perform diagnostic tests to properly assess the condition of the fetus.
In case the risk cannot be determined, the pregnant woman will be asked to collect the sample again. If the results are still inconclusive, the woman and her obstetrician will consider performing diagnostic testing.

2.4 More information about the test In this section, besides the transparent information about the test procedure, there are other important information about the VinNIPT test such as sensitivity, specificity, positive predictive value, gender, etc. test limits and the international guidelines that the VinNIPT test is following.

Depending on the results, there will be next treatment:
With high-risk results with chromosomal abnormalities such as trisomy 21, pregnant women and obstetricians need to consider diagnostic testing because VinNIPT is a safe and effective screening test but cannot replace a diagnostic test. With results that have not yet determined the risk: pregnant women will be asked to collect samples and re-test. If the second test results still do not identify the risk, the pregnant woman and her obstetrician will consider diagnostic testing. With low-risk outcomes: Pregnant women still need to continue to monitor their pregnancy periodically as recommended by their obstetrician. Vinmec International General Hospital is one of the hospitals that not only ensures professional quality with a team of leading medical professionals, a system of modern equipment and technology. The hospital provides comprehensive and professional medical examination, consultation and treatment services, with a civilized, polite, safe and sterile medical examination and treatment space. Customers when choosing to perform tests here can be completely assured of the accuracy of test results.