CELL-FREE FETAL DNA
NIPT

Did you know that small fragments of your baby’s DNA circulate in the maternal bloodstream?

These DNA fragments, known as cell-free fetal DNA (cffDNA), originate from the placenta. NIPT is therefore a simple blood test that quantifies and analyzes these cffDNA fragments to identify whether you have an increased risk of giving birth to a child with specific genetic disorders, including Down syndrome.

After NIPT became available in early 2013, there was significant progress in advanced cffDNA analysis methodologies, making it possible to expand screening from simple numerical chromosomal abnormalities, such as trisomy 21 (Down syndrome), to more complex structural imbalances of all 46 chromosomes, as well as screening for certain disorders caused by defects in a single gene, known as monogenic diseases.

Thus, CytoGenomic Laboratory becomes the first official partner of Ariosa Diagnostics (California, USA), offering patients in Romania the Harmony non-invasive prenatal screening tests from maternal blood for the detection of aneuploidies of chromosomes 13, 18, 21, X, and Y.

The best choice for a good start in life

Unique non-invasive prenatal screening tests

Test „PrenatalSafe Karyo Plus”

The non-invasive prenatal test evaluates all 46 chromosomes for both numerical and structural abnormalities, including nine microdeletion syndromes (DiGeorge, Prader–Willi, Angelman, Cri du Chat, Jacobsen, Wolf–Hirschhorn, 1p36 deletion, Langer–Giedion, Smith–Magenis), as well as submicroscopic alterations with sizes greater than or equal to (≥) 7 Mb.

“GeneSafe” Test – The evolution of non-invasive prenatal screening

GeneSafe is the first non-invasive prenatal test that analyzes 44 genetic conditions with severe clinical presentation resulting from de novo mutations (in other words, mutations that are not inherited), to which 5 inherited genetic conditions are added (the most common recessive disorders such as cystic fibrosis, beta-thalassemia, sickle cell anemia, autosomal recessive hereditary deafness type 1A and 1B).

GeneSafe therefore analyzes multiple genetic conditions that have a significant impact on quality of life and are not examined by other NIPT technologies. In addition to chromosomal abnormalities, this test can also detect single-gene disorders, both de novo and inherited, providing the most comprehensive information currently available from a non-invasive prenatal test.

“VERAgene” Test

A new screening approach that adds 50 monogenic diseases to the common trisomies (21, 18, 13) and to the microdeletion syndromes DiGeorge, Wolf–Hirschhorn, 1p36 deletion, and Smith–Magenis.

Important: NIPT is not considered a diagnostic test, even though the test’s sensitivity and specificity can reach up to 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).

A negative result does not exclude the presence of a genetic condition.

For the complete list of NIPT tests offered by Cytogenomic Medical Laboratory, please contact us.

Important: NIPT is not considered a diagnostic test, even though the test’s sensitivity and specificity reach up to 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).
A negative result does not rule out the presence of a genetic condition. For the complete list of NIPT tests offered by CytoGenomic Medical Laboratory, please contact us.

Who should take this test?

NIPT is a useful test for detecting aneuploidies (through all types of tests) and other fetal chromosomal abnormalities (only with the most advanced test) in any pregnancy and at any maternal age, but it is especially indicated in the following cases:

Advanced maternal age (>35 years)

Pregnancies in which invasive prenatal diagnosis is contraindicated (for example, due to the risk of miscarriage)

Ultrasound findings of fetal abnormalities suggestive of aneuploidy.

Personal or family history of chromosomal abnormalities (only through “PrenatalSafe Karyo Plus”).

What types of results can we obtain from NIPT?

There are three possible results in NIPT screening:

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

Positive: The fetus is presumed to be affected by a syndrome. An invasive test must be performed to confirm the result.

Inconclusive: Inconclusive results occur in 4% of cases. They usually appear when the amount of fetal DNA present in the sample is not sufficient to provide an accurate result. NIPT will be repeated at a later stage, when cffDNA levels will have increased due to the progression of the pregnancy.

What are the possible causes for situations in which no result is obtained?

The proportion of cffDNA present in maternal blood may be too low due to:

•Early gestational age. An ultrasound must be performed to confirm gestational age before NIPT sample collection.

•Increased maternal weight.
•A small placenta.

Why aren’t the results 100% accurate?

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

False positives

cffDNA originates from the placenta, and it is known that sometimes there are “cell lines” that develop in the placenta but not in the fetus. This is called “confined placental mosaicism,” resulting in a false-positive result that reflects an abnormal cell line present only in the placenta, but not in the fetus.
Very rarely, because all cffDNA in the mother’s blood is tested (which includes both maternal and fetal DNA), a condition present in the mother—but not in the fetus—may be detected.

False negatives

NIPT detects more than 98% of all babies with Down, Edwards, and Patau syndromes. Possible causes of false-negative results include:

cffDNA originates from the placenta, and it is known that sometimes there are “cell lines” that develop in the fetus but not in the placenta. This can result in a false-negative result. In such cases, the abnormal cell line is present only in the fetus, but not in the placenta.
Technical issues.

Complementary services

For cases with positive NIPT results, we offer complementary services:

1. Free genetic counseling.
2. Free rapid test (QF-PCR) for common aneuploidies.

3. Free karyotyping to confirm chromosomal abnormalities, after performing an invasive procedure such as CVS or amniocentesis.

* 1 + 2 are provided for any NIPT 3. offered only for “Prenatal Safe Karyo Plus”

In addition, only for Prenatal Safe Karyo Plus, if the maternal Rh factor is negative and the paternal Rh factor is positive, free determination of the fetal Rh factor is offered.