Explanation and application of NIPT (non-invasive prenatal DNA testing) technology (3)

? Non Invasive Prenatal Testing (hereinafter referred to as "NIPT"), NIPT is called non-invasive prenatal DNA testing, also known as non-invasive fetal chromosome aneuploidy testing, etc. It mainly detects whether the fetus suffers from three major chromosomal diseases, namely trisomy 13 (Patriot syndrome), trisomy 18 (Edwards syndrome), and trisomy 21 (Down syndrome).

? The previous two issues introduced to you the people who should use NIPT detection technology with caution and those who are not suitable for it, so today I will introduce to you the people for whom NIPT detection technology is suitable. Since the rise of NIPT testing technology in 2012, it has brought peace of mind to thousands of pregnant mothers and reduced avoidable burdens on thousands of families. Zeng Jin once witnessed a pregnant mother born in the 1990s squatting at the door of the clinic and crying like rain after receiving the high-risk Down syndrome screening report. At this time, she looked so helpless and ignorant. At a loss. Fortunately, the rise of NIPT testing technology has brought them a glimmer of hope, and they are not as confused and entangled as before.

? Let’s get back to business, let’s talk about the applicable groups of NIPT detection technology. In fact, after excluding those who use NIPT testing technology with caution and those who are uncomfortable, the remaining groups are the applicable groups of NIPT testing technology. Here we will focus on some special applicable groups.

? 1. Pregnant women who are contraindicated in using interventional prenatal examination? Most of these pregnant women are at risk of threatened abortion, have bleeding tendencies, are susceptible to infection, and are HIV carriers. There are also some pregnant women with Rh-negative blood type and fever symptoms.

2. Pregnant women whose Down syndrome screening results are borderline high risk (1/1000<=T18 risk value<1/350 1/1000 <=T21 risk value<1/270) Down syndrome screening is The abbreviation for Down syndrome prenatal screening test. The result of Down syndrome screening risk value is actually a probability value. By extracting the peripheral blood of pregnant mothers, the maternal serum is tested for alpha-fetoprotein, chorionic gonadotropin and free estriol. The concentration, combined with the pregnant woman's expected date of delivery, weight, age, weight and gestational age at the time of blood collection, is used to calculate the risk coefficient of giving birth to a fetus with congenital defects. Generally, the risk values ??calculated for Down syndrome screening for elderly pregnant women (>35 years old) are medium-high risk or critical risk values. Therefore, some local outpatient doctors do not recommend Down syndrome screening tests for elderly pregnant women. I mentioned earlier that the accuracy of NIPT detection technology reaches 99%. This data is still relatively conservative. With the development of NIPT detection technology, the accuracy of T21 has actually reached 99.9%.

? 3. Precious babies With the relaxation of the national two-child policy, these elderly pregnant women are both happy and sad. Advanced age is an important factor leading to Down syndrome, and pregnancy at advanced age is also one of the indications for prenatal diagnosis in my country. Before there was NIPT testing technology, most doctors would recommend invasive prenatal diagnosis such as amniotic fluid (amniocentesis), umbilical cord blood (umbilical vein puncture), chorionic villus biopsy, etc. As mentioned above, this type of prenatal diagnosis includes infection and miscarriage, etc. risk. Therefore, the advantages of NIPT testing technology are highlighted - no trauma, no risk of miscarriage, etc. NIPT testing technology only needs to take 5ml-10ml of peripheral blood of pregnant women. Especially for IVF (in vitro fertilization), it has extremely important clinical significance.

? 4. Pregnant women who miss the best time for serological screening (>26 weeks) The time for serological screening is from 14 weeks to 20 weeks of pregnancy, and the best time is from 16 weeks to 18 weeks. Pregnant women who have missed serological screening or other routine prenatal check-ups but require assessment of the risk of trisomy 13, trisomy 18, or trisomy 21.

In summary, NIPT detection technology has the characteristics of non-invasive sampling, no risk of miscarriage, high sensitivity, high accuracy, and short reporting cycle. Nowadays, it is gradually being used and promoted clinically, and it also allows Pregnant mothers are slowly accepting it. However, the current NIPT testing technology is only an auxiliary prenatal testing technology. Although there are still some limitations that make it unable to replace traditional invasive prenatal diagnosis, patients with positive NIPT test results are still Invasive prenatal diagnosis such as amniotic fluid (amniocentesis) and umbilical cord blood (umbilical vein puncture) are required as diagnostic criteria. It is hoped that pregnant mothers can choose appropriate and efficient testing technology based on their own circumstances to control risks to a minimum and achieve true eugenics and postnatal care.

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