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Non-Invasive Prenatal Genetic Testing (NIPT)

Test aimed at detecting foetal genetic alterations

The Non-Invasive Prenatal Test (NIPT) allows foetal aneuploidies to be detected by analysing the free foetal DNA (cfDNA) circulating in the mother's blood.

A more in-depth level of analysis allows the detection of structural chromosomal alterations (deletions, duplications, unbalanced translocations, insertions, ring chromosomes or inversions) in all foetal chromosomes, severe hereditary and “de novo” (not present in the parents) genetic diseases.

This type of test also allows the sex of the foetus to be known earlier (10th week vs. 19th with the morphological ultrasound).

It is a risk-free examination in which the dangers of miscarriage inherent to traditional invasive prenatal diagnosis techniques, such as amniocentesis and villocentesis, are eliminated.

What does NIPT involve?

The first step of the analysis involves taking a simple blood sample from the patient at the CMR clinic. The sample will then be sent to the GENOMA molecular genetics laboratory in Rome, which has developed a test called PrenatalSafe.

Free foetal DNA (cfDNA) is checked for in the sample taken.

During pregnancy, some DNA fragments of the foetus circulate in the mother's blood. Foetal DNA consists of short DNA fragments present in plasma in varying percentages depending on the gestational period and deriving from placental trophoblasts.

The amount of circulating fetal DNA increases with advancing gestational age and by the 10th week of gestation is sufficient to ensure the high specificity and sensitivity of the test.

Applications and suitability of NIPT

The NIPT test is suitable in the following cases:

  • - in all pregnant women with a gestational age of at least 10 weeks
  • - pregnant women under and over 35
  • - also in the event of counter-indication to invasive tests (e.g. risk of miscarriage)
  • - positive first trimester screening (Bi-Test)
  • - single and twin pregnancies, both in cases of natural conception and with autologous or heterologous MAR techniques
  • - particularly recommended for couples of an advanced paternal age
  • - pregnancies in which the risk of genetic diseases needs to be assessed
  • - in the event of a family history of aneuploidy
  • - couples in which one of the partners is a balanced translocation carrier

PrenatalSafe allows a level of in-depth examination previously only possible with foetal karyotype analysis, using invasive prenatal diagnostic techniques.

To find out more: prenatalsafe.it