Non-Invasive Prenatal Test
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
Thus, GeneSafe screens for several clinically significant and life-altering genetic disorders that are not targeted by other NIPT technologies.
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?
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?
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:
•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?
• 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.
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.