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NIPT Test: What it is and How it Works

nipt test

The NIPT test, also known as a non-invasive prenatal test, is a screening test developed in 2013 that aims to detect possible genetic problems in the baby during pregnancy.

This test has aroused great interest and has become an important tool in prenatal medicine. In this article, we’ll explore in detail what the NIPT exam is, what it’s for, how it works, and other relevant information.

What is NIPT?

NIPT is a non-invasive prenatal test that uses a blood sample from the mother to detect possible genetic problems in the baby. By analyzing the DNA present in maternal blood, it is possible to track the main chromosomal alterations that can affect the baby’s health, such as Down syndrome, Edwards syndrome, Patau syndrome, among others. This test has proven to be highly accurate, with a hit rate of over 90%.

What is the NIPT test for?

The NIPT test is especially indicated for women who are pregnant and want to assess the risk of genetic abnormalities in the baby. Performing the NIPT allows the obstetrician to assess the risks of genetic malformation in the baby, providing important information for monitoring the pregnancy and making future decisions.

How does NIPT work?

To understand how the NIPT test works, it is important to have a basic understanding of human genetic makeup. Humans have 46 chromosomes organized into 22 autosomal pairs and 1 pair of sex chromosomes. These chromosomes carry genetic information that determine our physical characteristics and predispositions to genetic diseases.

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During pregnancy, a fraction of the fetal DNA passes through the placenta into the mother’s bloodstream. This fetal fraction contains genetic information of the fetus and it is from it that the NIPT is performed. Through a simple sample of maternal blood, it is possible to identify chromosomal alterations that may indicate the presence of syndromes or genetic anomalies in the fetus.

Main syndromes screened by NIPT:

NIPT can detect a range of syndromes and genetic abnormalities. The main syndromes screened by the exam include:

  • Down’s syndrome
  • Edwards syndrome
  • Patau syndrome
  • Turner syndrome
  • Klinefelter syndrome
  • Triple X Syndrome
  • Jacob’s Syndrome
  • Triploidy
  • DiGeorge Syndrome
  • 1p36 deletion Syndrome
  • Angelman Syndrome
  • Prader Willi Syndrome
  • Cri-du-chat syndrome

Who can take the NIPT?

Although any pregnant woman can undergo the NIPT, there is a specific group that benefits most from this test. Women aged 35 and older, those who have abnormal results on biochemical screening or ultrasound, and those with a family history of genetic alterations are at higher risk and therefore eligible for testing. The ideal is to perform the exam from the ninth week of pregnancy.

Performing the NIPT exam is extremely important, as it provides valuable information for parents and physicians, allowing adequate planning of the pregnancy follow-up and emotional preparation for possible syndromes or genetic anomalies in the baby. The high accuracy of the test, with a hit rate of over 90%, provides parents with peace of mind.

However, it is essential to emphasize that the interpretation of the NIPT results must be made by the doctor in charge, taking into account the life history of the pregnant woman. If any result is indicative of genetic alterations, the doctor may suggest additional invasive tests, such as amniocentesis, to confirm the diagnosis.

Always remember to seek specialized medical advice and clear all your doubts with a health professional. Each pregnancy is unique, and individualized medical follow-up is essential to ensure the health and well-being of mother and baby.

Rest easy knowing that NIPT is a reliable and accurate option for assessing the risk of genetic abnormalities during pregnancy. This is an exciting time in your life, and we want to provide you with the support and information you need to make informed decisions and care for your baby’s development in the best possible way. Download the Kinedu app to follow each stage of your baby’s development!

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