NIPT – neoBona Test

neoBona Test:

The test we offer is the neoBona test (a new generation non-invasive test for fetal abnormalities) by Synlab.

NIPT Test

Non-invasive prenatal testing (also knows as NIPT Test) analyzes cell-free DNA from the fetus circulating in the pregnant mother’s blood. This is a prenatal screening test for Down syndrome (trisomy 21) and two other common fetal chromosomal abnormalities (trisomies 18 (Edwards syndrome) and 13 (Patau syndrome)). Also, testing for X and Y chromosomes is possible upon request.

Background

DNA from the fetus can be found circulating in the mother’s blood. The fetal cells are naturally broken down, resulting in the fetal DNA circulating freely in the mother’s blood. This cell-free DNA (cfDNA) can be analyzed to estimate the risk of the fetus having trisomies 21, 18 or 13.

Indication

Although NIPT screening can be performed in every pregnancy, it is especially indicated:

• Pregnant women of age > 35yrs.
• Increased risk with first trimester screening.
• Affected previous child.

Benefits

Since it is non-invasive there are no risks to the fetus as with invasive procedures (amniocentesis, CVS).

NIPT test is highly sensitive and specific when compared to existing screening approaches for Down Syndrome. It detects around 99% of all babies with Down, Edwards and Patau syndromes.

Material

Blood sample from the mother (1 x 10 ml whole blood in special tube).

Method

Targeted sequencing of cell-free fetal DNA in maternal blood.

Results

A ‘HIGH RISK’ result indicates a high risk for a trisomy. Following up with invasive procedures is recommended in this case. The test identifies more than 99% of fetuses with trisomy 21, 98% of fetuses with trisomy 18, and 94% of fetuses with trisomy 13. The test is highly specific for Trisomy 21 (99.9%), 18 (99%) and 13 (99.9%).

X/Y analysis for singleton pregnancies

Extra, or incomplete copies of one of the sex chromosomes can be detected (XXX, XYY, XXYY, XXY and a missing X chromosome in a girl).

*X/Y analysis for twin pregnancies

Absence or presence of the Y chromosome can be detected. Absence of Y = both twins are female, presence of Y = one or both twins are male.

Requirements

For singleton and twin pregnancies, live fetus, WOG > 10 weeks by ultrasound, no vanishing twin.

Preanalytics

Please send your patient to the lab for blood extraction or contact FML for the special tubes.

Turnaround Time

7-10 days

Please Note

Patient must be in WOG 10 (gestation week 10) or later.

References:

1. Global perspectives on clinical adoption of NIPT

2. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes

3. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome

4. Performance of the neoBona test: a new paired-end massively parallel shotgun sequencing approach for cell-free DNA-based aneuploidy screening