Non-Invasive Prenatal Test (NIPT)

CMR Torino Non-Invasive Prenatal Test (NIPT)

The Non-Invasive Prenatal Test (NIPT) allows for the detection of fetal aneuploidies by analyzing circulating cell-free fetal DNA (cfDNA) in maternal blood.

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

This type of test also allows for early knowledge of the fetus's sex (10th week vs. 19th week of morphological ultrasound).

It is a non-risky examination that eliminates the risks of miscarriage present in traditional invasive prenatal diagnostic techniques, such as amniocentesis and chorionic villus sampling.

What Does NIPT Involve?

The first step of the analysis involves a simple blood draw from the patient, which will be performed at the C.M.R. Subsequently, the sample will be sent to the GENOMA molecular genetics laboratory in Rome, which has developed a test called PrenatalSafe.

The collected sample is tested for circulating cell-free fetal DNA (cfDNA).

During pregnancy, some fragments of fetal DNA circulate in maternal blood. Fetal DNA consists of short DNA fragments present in the plasma in varying percentages depending on the gestational period and derived from placental trophoblasts.

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

Non-Invasive Prenatal Test (NIPT)

Applications and Indications for NIPT

    The NIPT test is indicated for:
  • all pregnant women with a gestational age of at least 10 weeks
  • pregnant women under and over 35 years old
  • also in cases of contraindications to invasive investigations (e.g., risk of miscarriage)
  • positive first trimester screening (Bi-Test)
  • single and twin pregnancies, whether conceived naturally or through autologous or heterologous ART techniques
  • particularly recommended for couples with advanced paternal age
  • pregnancies where it is necessary to assess the risk of genetic diseases
  • in cases of family history of aneuploidy
  • couples where one partner is a balanced translocation carrier

PrenatalSafe allows for a level of investigation depth possible only until now with fetal karyotype analysis, through invasive prenatal diagnostic techniques.

To learn more, visit prenatalsafe.it

The C.M.R. Turin Team

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