What is NIPT and Why is it Important in Gynecology?

Hello! Today, we will talk about what NIPT is and why it is necessary. Gynecology is constantly evolving, offering new diagnostic and treatment methods to ensure women receive the highest quality care for their health. One of these innovative methods is the NIPT, which has become a breakthrough in prenatal diagnostics. Let’s explore what this test is, how it is conducted, and why it is so important.

What is NIPT?

NIPT, or Non-Invasive Prenatal Testing, is a non-invasive method for detecting genetic abnormalities in a fetus while still in the womb. This test is based on the analysis of DNA circulating in the blood of the pregnant woman. Thanks to modern technologies, doctors can study the genetic material of the fetus without the need for invasive procedures.

What Pathologies Can Be Diagnosed with NIPT?

The NIPT can identify a range of genetic anomalies and chromosomal disorders in the fetus. Among the most common pathologies that can be diagnosed using this test are:

• Down Syndrome: Trisomy 21, the most common chromosomal defect characterized by developmental delays and physical features such as a short neck, a flat face, slanted eyes, and palm creases.
• Edwards Syndrome: Trisomy 18, associated with severe internal organ abnormalities and developmental delays. Children with this syndrome typically have low birth weight, microcephaly, and heart defects.
• Patau Syndrome: Trisomy 13, also linked to serious internal organ abnormalities and developmental delays. Children often have microcephaly, cataracts, and other congenital defects.
• Turner Syndrome: Monosomy X, a genetic disorder where girls are missing one of the two X chromosomes. Characteristic signs include short stature and heart and kidney problems.

This is just a short list of pathologies that can be identified with NIPT. However, it is important to remember that this test is not 100% accurate, and if a positive result is obtained, additional testing is recommended to confirm the diagnosis.

How is NIPT Conducted?

The NIPT is usually performed from the 10th week of pregnancy when there is already enough fetal DNA circulating in the mother’s blood to conduct the analysis. The procedure is simple and poses no danger to the mother or the child. A blood sample is taken from the pregnant woman’s vein using a standard needle, and this blood is then sent to a laboratory where specialists analyze the DNA contained in the mother’s plasma.

Conclusion

NIPT is an innovative and safe method for early diagnosis of genetic anomalies in the fetus. This method allows prospective parents to obtain information about their child's health at an early stage of pregnancy, enabling them to make informed decisions and prepare for the future with maximum comfort. I hope this information has been helpful to you. Thank you very much for your attention, and please subscribe to my page. See you soon!