Non-Invasive Prenatal Test

Do you know that small fragments of your child’s DNA circulate in the maternal bloodstream?
These DNA fragments, known as cell-free foetal DNA (cffDNA), originate from the placenta. NIPT is thus a simple blood screening test that quantifies and analyzes these cffDNA fragments to identify if you have an increased risk of giving birth to a child with specific genetic disorders, including the Down syndrome.

After the NIPT became available in early 2013, there was a fast evolution of in-depth cffDNA analysis methodologies, making it possible to extend screening from simple chromosomal numerical abnormalities such as trisomy 21 (Down syndrome) to more complex structural imbalances of all of the 46 chromosomes, up to the screening of certain diseases caused by defects produced in a single gene, called monogenic diseases.
Thus, CytoGenomic Laboratory was the first Romanian official partner of Ariosa Diagnostics (California - USA). Since then, we have been providing Harmony non-invasive screening from maternal blood, for the identification of aneuploidies of chromosomes 13, 18, 21, X, Y.

The best choice for a good start in life

Unique prenatal non-invasive screening tests

PrenatalSafeKaryo Plus
This non-invasive prenatal test evaluates all 46 chromosomes for both numerical and structural abnormalities larger or equal to 10 Mb, in addition to nine anomalies associated with common microdeletion syndromes (DiGeorge, Prader-Willi, Angelman, Cri du Chat, Jacobsen, Wolf-Hirschhorn, deletion 1p36, Langer-Gideon, Smith-Magenis).
GeneSafe – The evolution of non-invasive prenatal screening.
GeneSafe is the first NIPT that screens for both de novo and inherited single-gene diseases: 44 severe genetic disorders due to de novo mutations (a gene mutation that is not inherited) and 5 common inherited recessive genetic disorders.

Thus, GeneSafe screens for several clinically significant and life-altering genetic disorders that are not targeted by other NIPT technologies.
A new screening approach that adds 50 monogenic recessive diseases to common trisomies (21, 18, 13) and DiGeorge, Wolf-Hirschhorn, 1p36, and Smith-Magenis microdeletion syndromes.
Important: NIPT is not considered a diagnostic test, although the sensitivity and specificity of the test reaches 99% for certain conditions. This means that an abnormal result must always be confirmed by an invasive diagnostic test such as amniocentesis or chorionic villus sampling (CVS).
This means that an abnormal result must always be confirmed by an invasive diagnostic test such as amniocentesis or chorionic villus sampling (CVS).

A negative result does not rule out the presence of a genetic condition. For the full list of NIPT tests provided by Cytogenomic Medical Laboratory, please contact us.

Who should undergo this test?

NIPT is a useful test for detecting aneuploidy (through all types of tests) and other changes in the foetal chromosomes (the most advanced test only) in any pregnancy and at any age, but it is particularly useful in the following cases:

Advanced maternal age (> 35 years)

Advanced paternal age (> 40 years)

A positive screening – such as double-marker test - in the first trimester

Pregnancies in which invasive prenatal diagnosis is contraindicated (e.g., risk of spontaneous abortion)

An ultrasound image of foetal anomalies suggesting aneuploidy.

Personal / family history of chromosomal anomalies (only through the PrenatalSafeKaryo Plus test)

What types of results can we get from NIPT?

There are three possible outcomes for a NIPT screening:

Negative: The foetus is unlikely to be affected by a syndrome.

Positive: The foetus is supposed to be affected by a syndrome. An invasive test should be performed to confirm the result.

Inconclusive: Inconclusive results are found in 4% of cases. These usually occur when the amount of foetal DNA present in the sample is not enough to give an exact result. NIPT will be repeated at a later stage, when cffDNA levels will be increased due to pregnancy progression. NIPT detects about 98% of all children with Down, Edwards and Patau syndromes.

What are the possible causes for situations when you do not have a result:

The proportion of cffDNAcirculating in the maternal blood may be too low due to:

•Low age of pregnancy. An ultrasound should be performed to confirm the gestational age before taking samples for NIPT •Increased mother’s weight. •Small placenta.

Why are the results not 100% accurate?

Both positive and negative results may be inaccurate for the following reasons:
False positive results

• While cffDNA originates from the placenta, sometimes there are “cell lines” that develop in the placenta, but not in the foetus. This is called “limited placental mosaicism”, resulting in a false positive result, which reflects an abnormal cell line that is present only in the placenta but is not present in the foetus.

• In very rare cases, as all cffDNA in the mother’s blood (which includes both the mother’s and the foetus’s cell-free DNA) is tested, can we detect a problem that is present in the mother but not in the child.
False negative results

NIPT detects more than 98% of all children with Down, Edwards and Patau syndromes.

• While cffDNA originates from the placenta, sometimes there are “cell lines” that develop in the foetus, but not in the placenta. This can cause a false negative result. In the case of an abnormality, the cell line may be present only in the foetus, but not in the placenta.
•Technical problems.

Complementary services

We provide complementary services for cases with positive results in the NIPT testing:

1. Free genetic counselling.
2. Free QF-PCR testing for common aneuploidies.
3. Free karyotype to confirm chromosomal abnormalities after an invasive procedure, CVS, or amniocentesis.
1+2 are being provided for any NIPT performed 3. is only provided for the “PrenatalSafeKaryo Plus” testing
Additionally, for couples where the mother’s Rh is negative and the father’s Rh is positive, that choose PrenatalSafe Karyo Plus, we provide free of charge determination of the foetal Rh.