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Launch of comprehensive screening test for pregnancy genetic abnormalities

From May 1, the Institute of Medical Genetics – Gene Solutions launched and deployed the triSure Procare test, a comprehensive screening for 3 common genetic abnormalities in pregnancy.

Monodominant diseases are a group of serious diseases affecting the quality of life of children with high prevalence. Currently, monodominant disease has not been screened during pregnancy and there is no effective method for prenatal screening.

Meanwhile, up to 60% of severe single-gene diseases after birth are dominant hereditary diseases with most of the causes due to new (de novo) mutations occurring during fetal development, not inherited from the mother. Parents to children or family history should be easy to miss. Notably, many studies show that the older the father’s age (over 40 years old), the higher the risk of having a child with a monogenic dominant disease caused by a new de novo mutation.





Fetal ultrasound is difficult to detect severe monogenic diseases.  Photo: Gene Solutions

Fetal ultrasound is difficult to detect severe monogenic diseases. Photo: Gene Solutions

With the goal of increasingly perfecting genetic tests to screen for genetic defects before birth, providing a better choice for pregnant women, and at the same time contributing to improving the prenatal screening process in Vietnam today. May 1, Institute of Medical Genetics – Gene Solutions officially launched and deployed a new non-invasive prenatal screening test package triSure Procare comprehensive screening for three types of genetic abnormalities common in pregnancy.

Accordingly, this new test will effectively screen 3 types of genetic abnormalities including 25 chromosome number abnormalities (traditional NIPT); 9 single recessive diseases (Carrier) and 25 genetic abnormalities due to new de novo mutations in dominantly inherited disease genes (monogenic NIPT).





The screening test will collect 10ml of a pregnant woman's blood only once.  Photo: Gene Solutions

The screening test will collect 10ml of a pregnant woman’s blood only once. Photo: Gene Solutions

According to Dr. Nguyen Hoai Nghia, representative of Gene Solutions, the highlight of triSure Procare is the integration of 3 gene tests in one. TriSure Procare test will collect 10ml of pregnant woman’s blood only once from the 9th week of pregnancy. triSure Procare uses next-generation NGS sequencing technology with ultra deep sequencing to detect genetic mutations in fetal extracellular DNA. This technique was developed based on Vietnamese genetic data, with an accuracy of about 96.7% and a specificity of >99%.

“This is a new technique in the world that can survey and detect most of the genetic abnormalities of the fetus, especially 25 dominant monogenic diseases with only 1 maternal blood collection. Therefore, it can be said that this is a A complete and convenient screening test for pregnant women at a reasonable cost” – Dr. Nguyen Hoai Nghia shared.





Screening for genetic abnormalities helps reduce unfortunate outcomes for children.  Photo: Gene Solutions

Screening for genetic abnormalities helps reduce unfortunate outcomes for children. Photo: Gene Solutions

Assoc. Prof. TS.BS Hoang Thi Diem Tuyet – Director of Hung Vuong Hospital, said that vitreous bone disease is one of the single-gene dominant diseases occurring due to abnormalities in 2 genes, COL1A1, COL1A2. Vitreous bone leads to a condition where the bone is easily broken, even a baby in the womb can break a bone and when the baby is born, the bone system is very brittle.

“If the expanded NIPT test can screen for 25 single-gene dominant diseases, it will contribute to improving the quality of prenatal screening in our country,” said Dr. Tuyet.

And according to Assoc. Prof. TS.BS Nguyen Duy Anh – Director of Hanoi Obstetrics and Gynecology Hospital, Head of Department of Obstetrics and Gynecology at Hanoi National University, out of more than 4,000 detected single-gene diseases, 25 are dominantly inherited diseases. changes, seriously affecting the quality of life of children. The cumulative frequency of these 25 autosomal dominant diseases is estimated to be 1 in 600, which is higher than that of Down syndrome (1/700). Therefore, early screening for these diseases can reduce the unfortunate consequences for children.

This is the latest prenatal screening test at Gene Solutions supports a more comprehensive survey of common genetic abnormalities in addition to other prenatal genetic testing packages triSure3, triSure9.5, triSure NIPT and triSure Carrier.

In addition to practical benefits, helping to timely and effective intervention for children after birth or have a better pregnancy management plan, when performing triSure Procare, pregnant women will receive thorough advice and comprehensive support after testing, especially if the results are positive. For example, consultation and support for amniocentesis 3,500,000 VND, free diagnostic test for CNV worth 4,500,000 VND, free genetic test for husband to identify mutations in fetus as new mutations. Currently, support diagnostic tests for the fetus or baby after birth to confirm the diagnosis when the screening result is positive.

Mr. Chi

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