Early detection of Patau syndrome by fetal DNA testing in maternal blood (NIPT)

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Patau syndrome is one of the chromosomal abnormalities encountered in the fetus, causing the baby to die in the womb or die after the first year of life. Fetal DNA test in maternal blood (NIPT) helps to detect Patau syndrome early, safe and accurate

1. Overview of Patau .'s syndrome

Patau syndrome is a birth defect caused by an extra chromosome in the 13th pair, called trisomy 13. The fetus with this syndrome often develops slowly, along with many other abnormalities. If the fetus has Patau syndrome, it can be born with serious cardiovascular and neurological defects.
Patau syndrome is quite rare, the rate is 1/16000 pregnancies, more common in girls, the risk increases with maternal age. More than 80% of babies with Patau syndrome are born dead within the first year, 95% die in the womb. There are still children who can live to adulthood, but it is very rare.
The cause of Patau syndrome is currently unknown, so prenatal screening is the most effective way for parents to prevent having a baby with Patau syndrome.
There are many traditional prenatal screening diagnostic methods such as Double Test, Triple Test, ... but late detection, risk of affecting the fetus, high error rate, so it has not met the needs of the product. extra. Maternal fetal blood test (NIPT) is a new prenatal screening method, currently applied in many countries around the world.

2. Advantages of fetal DNA test in maternal blood in early detection of Patau . syndrome

NIPT (Non-Invasive Prenatal Test) is the most advanced prenatal testing method in the world today. This test analyzes the free fetal DNA dissolved in the mother's blood using Gene sequencing technology. From there, it helps to detect chromosomal abnormalities from a very early fetal time with very high accuracy. The results of a fetal blood test are not affected by previous pregnancies.

NIPT only needs to take maternal blood, without amniocentesis, so it is an absolutely safe diagnostic method for mother and fetus, currently being applied at Vinmec International General Hospital.
Traditional prenatal diagnosis methods such as amniocentesis and placental biopsy have high accuracy but have many potential unsafe factors such as: increase the risk of miscarriage, vaginal bleeding, fluid leakage. Amniotic fluid, infection, ...
Traditional screening methods including maternal serum screening (double test, triple test) and ultrasound have not yet met the wishes of pregnant women because of false positives. high, thereby increasing the rate of pregnant women having unnecessary amniocentesis.

Therefore, NIPT prenatal screening meets the wishes of pregnant women in prenatal DNA screening, not necessarily amniocentesis, placental biopsy, non-invasive, so it is much safer.
Furthermore, NIPT screening can be performed from the 10th week of pregnancy onwards, helping to detect very early on common chromosomal abnormalities, including Patau syndrome. It only takes 3 to 5 days, pregnant women can get the results of the fetus having chromosomal abnormalities, Patau syndrome.

3. The ability to detect Patau syndrome in the fetus in the NIPT . test

Fetal DNA testing technique in maternal blood NIPT can screen for abnormalities in the number of trisomy of 23 pairs of chromosomes (chromosomes), including 22 pairs of autosomes and 1 pair of sex chromosomes.
The NIPT method is based on extracellular DNA testing through maternal blood tests, which can accurately predict up to 99% the risk of having a baby with Down syndrome, 98% of the risk of having a baby with Edward's syndrome and 80% in Patau syndrome.

Below is a table comparing the screening ability of NIPT with common chromosomal abnormality syndromes, including Patau syndrome compared with two common methods, Double test and Triple test.
Thus, NIPT fetal DNA test is a modern, safe and highly effective diagnostic method, helping to detect Patau syndrome and other chromosomal abnormalities in the fetus early. Vinmec Gen Technology Center is equipped with modern machinery for fast, accurate and outstanding safety results such as:
Clean room system that meets standards AXP automatic stem cell separation and storage system – Thermogenesis and Bio-Archive Flowcytometer Navios analyzer and cell analyzer – Beckman Coulkter Eppendorf centrifuge, Adiplus Vinmec also commits:
Customers will be consulted, full of information about NIPT with disease specialists genetics The customer will not receive the results without genetic counseling The process of taking and transporting blood samples containing mother and child DNA according to ISO 15189/2012 standards Privacy and confidentiality customers Clean room system, modern equipment Supported by insurance when the result is positive or false negative

Please dial HOTLINE for more information or register for an appointment HERE. Download MyVinmec app to make appointments faster and to manage your bookings easily.