Non Invasive Prenatal Testing

What is the Non Invasive Prenatal Test

Non-Invasive Prenatal Testing (NIPT) is a new, innovating approach, which estimates the risk of presence of specific frequent genetic syndromes, such as Down syndrome, with greater reliability than conventional biochemical methods performed in blood of pregnant women.

The test involves the analysis of DNA fragments that are detected in the maternal circulation avoiding any risk of pregnancy complication and miscarriage. Its sensitivity is very high (> 98%) and can be performed in pregnancies from 9 weeks, however it is not equivalent to the diagnostic methods used in trophoblast biopsy and amniocentesis, nor are there the same control possibilities. Therefore, the choice of performing the test should be made after discussion with a specialist physician and according to all the indications.

What can be tested during Non-Invasive Prenatal Testing with the Panorama Test (Natera S.A., California, USA)?

With the Panorama test it can be tetsed if the fetus is at risk of having Down syndrome or one of the following chromosomal abnormalities. The sex of the fetus can also be determined.

Chromosomal abnormalities

• Trisomy 21 (Down syndrome)
• Trisomy 18 (Edwards syndrome)
• Trisomy 13 (Patau syndrome)
• Triploidy

Racial Chromosome Abnormalities

• Klinefelter Syndrome
• Triple X Syndrome
• Monosomy X (Turner syndrome)

Minor Chromosome Deficiencies (Optional)

• 1p36 deletion syndrome
• Cri-du-chat syndrome
• Prader Willi Syndrome
• Angelman Syndrome
• 22q11.2 deletion syndrome

When can Panorama be performed?

The Panorama test can be performed on single and twin pregnancies over 9 weeks. Cases of pregnancy less than 9 weeks show an increased rate of inability to produce results. Screening of women who have had a bone marrow transplant is not possible.

Reasons to choose Panorama Test

The methodology of Panorama test is more reliable and accurate than all the methods used by other known non-invasive prenatal tests according to date published data.

* Four known mosaic cases were included: two Monosomy X, one T13, and one T18. Both cases of Monosomy X were called high risk, the T18 called low risk and the T13 was no-called. False positive and false negatives can occur on all chromosomes due to maternal, fetal, and/or placental mosaicism, or other causes.

The percentage of fetal DNA in the mother’s blood varies in quantity during pregnancy, while it tends to be lower earlier in pregnancy. Thanks to the use of mononucleotide polymorphisms technology (SNPs) Panorama test have high detection rates and thus can be used already from the 9th week.

Panorama® Certifications

1. CE certificate for Panorama® collection kit
2. CE-IVD certificate for Panorama® reagents (Constellation)
3. CE-IVD for constellation software
4. CLIA certificate
5. ISO certificate

Also here you can see the Natera laboratory licenses and certifications.