Non-Invasive Prenatal Testing (NIPT)

What Are Prenatal Investigations?

Prenatal investigations are tests performed during pregnancy to assess whether a fetus may have certain genetic or chromosomal abnormalities. These examinations support informed medical decisions and help identify potential risks before birth.

Prenatal testing is generally divided into two complementary categories:

Screening tests
Diagnostic tests

These two types of tests work together to assess risk and, when necessary, confirm or exclude specific conditions.

Screening Prenatal Tests

Screening prenatal tests include:

Ultrasound examinations
Biochemical laboratory tests
Non-Invasive Prenatal Testing (NIPT)

Screening tests have several important characteristics:

They are safe for both the pregnant woman and the fetus.
Their purpose is to assess whether there is an increased risk of certain genetic or chromosomal abnormalities.
If a higher risk is identified, further diagnostic testing may be recommended to confirm or rule out the suspected condition.

Different screening methods vary in their ability to detect specific conditions. For example:

Ultrasound is particularly effective in identifying anatomical abnormalities.
NIPT is currently the most accurate prenatal screening method for detecting common fetal chromosomal abnormalities.

Diagnostic Prenatal Tests

Diagnostic prenatal testing includes procedures such as:

Chorionic villus sampling (CVS)
Amniocentesis

These tests are typically performed:

Between 10 and 13 weeks of pregnancy (CVS)
Between 15 and 20 weeks of pregnancy (amniocentesis)

Diagnostic tests are used to confirm or exclude a specific genetic abnormality suggested by screening results.

Because these procedures are invasive, they carry a small risk of miscarriage (approximately 1 in 200). For this reason, diagnostic prenatal tests are not routinely performed in all pregnancies, but are recommended only when screening tests indicate a higher risk.

What Is NIPT and Why Choose It?

NIPT (Non-Invasive Prenatal Testing) is a non-invasive screening test, meaning it does not pose risks to the pregnancy, unlike invasive procedures such as amniocentesis.

According to leading international gynecological and medical associations, NIPT is the most accurate prenatal screening test currently available. It is used to assess the risk of common fetal aneuploidies and, today, also other chromosomal abnormalities.

NIPT analyzes cell-free fetal DNA circulating in the pregnant woman’s blood (plasma).

Aneuploidy refers to a change in the number of chromosomes and is one of the most common types of genetic abnormalities detected during pregnancy.

What Can NIPT Detect?

NIPT can:

Significantly reduce the number of unnecessary invasive diagnostic procedures
Assess the risk of common chromosomal abnormalities such as: Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), Patau syndrome (Trisomy 13)
Detect aneuploidies of the sex chromosomes, including: Turner syndrome (45,X), Klinefelter syndrome (47,XXY)
Identify certain microdeletions

Some of these conditions:

Are not related to maternal age
May not be detected by ultrasound or biochemical screening
Can occur more frequently than some autosomal chromosomal abnormalities

Important Note

NIPT is a screening test, not a diagnostic test.
A negative NIPT result does not guarantee the absence of chromosomal abnormalities in the fetus.
A positive NIPT result must always be confirmed through invasive prenatal diagnostic testing, such as chorionic villus sampling or amniocentesis.