There are many genetic causes of pregnancy death, but it is chromosomal abnormalities that cause 70 percent of all miscarriages. Genetic testing is the easiest way to determine if they caused a miscarriage. The NGS method is considered to be the most effective and opening up new possibilities of diagnostics.
NGS(Next Generation Sequencing) method - what is its innovation in determiningthe cause of miscarriage ? The NGS method, i.e. next-generation sequencing, is an innovative method of reading human DNA based on direct access to the genetic code. Due to its accuracy, it is called the reference method for all other genetic tests. NGS is an exceptionally sensitive method that analyzes several hundred thousand readings for each chromosome. This is much more than the older methods, which only examined a few dozen places on the chromosome, and therefore provided much less information.
All other methods (microarrays, fish) use light and markers in the research. They use advanced optics, which can be unreliable and defective.
Another advantage of the NGS method is the ability to read a complete and continuous record of DNA, unlike other methods that only allow part of the genetic code to be examined. During sequencing, each sample is given an additional security element in the form of a molecular code to completely exclude the possibility of confusion, making NGS a very reliable and reliable genetic test.
Since the advent of sequencing technology, NGS has become an indispensable tool in molecular biology. It enabled unlimited insight into the genetic information of any organisms at a previously unattainable level. Thanks to its universal nature, it is used in many scientific fields, from medicine to evolutionary biology and agriculture. NGS is most widely used in medical diagnostics. It is most often used as part of in vitro fertilization. Additionally, it enables obtaining comprehensive information about the embryo's DNA in terms of potential genetic mutations and diseases. With this knowledge, doctors have a chance to help couples who are at increased risk of developing genetic defects in the fetus.
Research into causes of miscarriage
Genetic research makes it possiblequick and effective examination of the causes of miscarriage on the abortion material. The existing standard methods in most cases turned out to be sufficient. The effectiveness of such tests is high and allows to detect virtually all the most common genetic defects. According to estimates, the effectiveness of tests using standard methods is about 85 percent, which is a very high level for medical diagnostics. Genetic research into the causes of miscarriage is becoming more and more common and is the future in the treatment of habitual miscarriages.
Confidence in diagnosing the cause of miscarriage - NGS
If the causes of the miscarriage cannot be determined by basic genetic testing, the chance of obtaining an answer is the NGS test, which can detect all possible genetic defects. Their determination allows to determine whether the fetal karyotype abnormalities were the cause of the miscarriage. The finding of an aberration in a dead fetus accurately shows the cause of the miscarriage and determines the chance of maintaining subsequent pregnancies. Sometimes she also reveals a chromosomal abnormality in one of the partners that caused the miscarriage.
Worth knowingGenetic testing determines the next steps in diagnosis and is of great psychological importance for a couple who lost their pregnancy. The drawback of the NGS method is its price, which in combination with the classic methods of genetic research on the causes of miscarriage may seem expensive. Standard genetic tests cost about PLN 800, the cost of NGS is over PLN 2,000. For this reason, next-generation sequencing has not completely replaced all methods of genetic testing.