Support during your pregnancy

Depending on your medical record as it pertains to managing your pregnancy, you might undergo a wide range of tests.

Screening
Non-invasive sample

• Ultrasound
• Maternal Serum Markers (MSM)
• Non-Invasive Prenatal Testing (NIPT)

Diagnosis
Invasive sample

• Amniocentesis
• Chorionic villus sampling

One of these test, the combined screening for trisomy 21 is designed to screen for the risk of trisomy 21 in the unborn child.
This risk is calculated on the basis of three elements:

• Expectant woman’s age,
• Ultrasound,
• Blood sample for assaying the serum markers (blood proteins) in the pregnant woman.

The result of this test is expressed as either “low risk” or “high risk” of the foetus being affected by trisomy 21, with a detection rate of around 85%.

A risk indicated by the maternal serum markers (MSMs) does not mean that the foetus is affected by a chromosome anomaly; a foetal karotype can be performed to confirm or disprove this. This test analyses an invasively obtained sample of the unborn child’s chromosomes, obtained by amniocentesis or chorionic villus sampling.

Can invasive testing be avoided with NIPT?

Non-Invasive Prenatal Testing is an alternative offered to pregnant women at risk of foetal trisomy before resorting to invasive sampling. On the basis of the results, NIPT can be used to determine whether an amniocentesis, or other invasive action, would be recommended.

How?

The NIPT generates two kinds of result:

• A positive result: This means there is a high risk that the foetus is affected by one of the suspected anomalies (i.e. trisomies 13, 18 and/or 21). In this case, NIPT as a screening test alone is not adequate for making a diagnosis. A foetal karotype test on an invasive sample is recommended to confirm the result.
• A negative result: This means the risk is extremely low. In this case, an invasive sample is not recommended and your pregnancy can proceed under medical supervision with “conventional” ultrasounds.
• Autosomal aneuploidies and chromosomal imbalances are rare chromosomal abnormalities. In cases of a positive result, your healthcare professional will explain the care best suited to you.

The benefit of using the Ninalia NIPT in monitoring pregnancies of women at risk

In many cases, NIPT means that invasive sampling need not be pursued, thus reducing the associated risk of miscarriage*.

Ninalia NIPT by Eurofins Biomnis is reliable, rapid and high-performance, with a detection rate >99,9 % for trisomies 21, 18 and 13.

Unlike other tests available on the market, Ninalia NIPT performed at Eurofins Biomnis provides primary screening for women expecting twins (screening by blood markers is not currently recommended for pregnancies with twins).

* Non-invasive prenatal testing of trisomies 13, 18 and 21 could make 95% of invasive tests, with an associated risk of miscarriage of around 0.5 to 1%, redundant (source: French National College of Gynaecologists and Obstetricians (CNGOF).