The non invasive prenatal test based on fetal DNA analysis is a next generation exam more and more spread. The fetal DNA test is performed to detect main chromosome trisomies during pregnancy, it is for all women and mostly for those who have risk factors.

The fetal DNA test can be performed starting from 10th week of pregnancy with a simple blood draw. The exam is based on the analysis of fragments of DNA from the fetus, that are produced by the placenta and circulates in the blood of the expectant mother during all pregnancy.

The test based on fetal DNA analysis is a non invasive prenatal test and it doesn’t put at risk the health of the mother and of the fetus, unlike invasive prenatal diagnosis tests (like amniocentesis or chorionic villus sampling).

Aurora non invasive prenatal test is based on Massive Parallel Sequencing technology (MPS), that allows to analyse the whole human genome to detect abnormalities in chromosomes. By analysing cell-free fetal DNA, this next generation technology can detect with a reliability of 99.9% the main trisomies, such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13) and sex chromosome abnormalities. The fetal DNA test can also detect the sex of the baby.

The non invasive prenatal test that analyse cell-free fetal DNA can be performed by all pregnant women and especially from those with risk factor, such as:

• Advanced maternal age
• Personal/family case history with chromosome abnormalities
• Previous children with chromosome abnormalities
• Positive results from screening test for the first/second quarter

Whenever the fetal DNA test gives a result suggesting chromosome abnormalities, the physician may suggest to undergo an invasive prenatal diagnosis test to confirm the result.

If you want to perform a fetal DNA test choose Aurora

Amniocentesis is an invasive prenatal diagnostic test recommended for women with high risk factors associated to fetal chromosomal abnormalities.
Because of its invasiveness, amniocentesis presents a risk of miscarriage up to 1%.
This invasive prenatal test is usually required in case of:

• Advanced maternal age (over 35 years);
• Family history of chromosomal abnormalities ;
• Previous children affected by chromosomal abnormalities;
• Positivity to prenatal screening tests.

Amniocentesis is performed by inserting a needle into the belly of the pregnant woman, which reaches the amniotic sac and draws a liquid sample (about 15-20 ml).
The belly area subjected to the test is determined through ultrasound monitoring  in order to:

• avoid a contact between the needle and the fetus or the placenta
• identify an area with abundance of  amniotic fluid.

The amniotic fluid contains the child’s DNA, which is analyzed to detect the presence of chromosomal abnormalities with an accuracy up to 100%.
In some cases it may be necessary to repeat the sampling: this could happen when the amount of collected liquid is insufficient or when cells present in the sample are not sufficient to perform the analysis.
For the 48-72 hours following amniocentesis, pregnant women should remain at rest and avoid efforts.
In some cases, pregnant women may experience pain, fever and small contractions following the drawing. If this happen it's necessary to contact the gynecologist immediately.
Amniocentesis can be performed from the 15th week of pregnancy because from this gestational age there is a sufficient amount of amniotic fluid for picking and analyzing cells' DNA.
Usually, results are available within 20 days but in case of specific analysis (i.e. detection of rare genetic diseases) reporting could require more days.

An analysis of amniotic fluid can detect Down Syndrome, sex chromosome abnormalities and developmental issues (i.e. Spina bifida)

 If you are not at risk consult  your gynecologist to avoid the risks of amniocentesis with the prenatal test of next-generation AURORA.

Noninvasive prenatal diagnosis - Frequently Asked Questions (FAQs)

Why perform the AURORA test?

AURORA is a non-invasive  prenatal test that is performed mainly  for two reasons:

• to know, starting as early as the 10th week of pregnancy, the presence of any chromosomal abnormalities in the fetus;
• to avoid invasive and dangerous methods for the baby, such as amniocentesis or chorionic villus sampling.

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Why choose the AURORA test rather than other fetal DNA testing on maternal blood?

AURORA is the test that offers the better technology  and an excellent service.
thanks to the partnership between Sorgente Genetica and Illumina Inc., the AURORA test can rely on the best technology available today. The tests are performed in California, USA, at the labs of Illumina Inc., a company listed on the New York Stock Exchange, world leader in the production of DNA sequencing machinery.  The AURORA test uses the cutting edge technology of massive parallel sequencing (MPS) of the entire human genome, unlike other tests available that use instead a targeted investigation strategy. This produces the following advantages:

• higher reliability of results (>99.9%) and reduction in the rate of false positives <1%;
• higher sensitivity and reduction in the rate of false negatives <1%;
• high performance. The test with the lowest repetition rate:  only 1 null test out of 1,000, against 1 out of 20 among competitor tests;
• clear results; aneuploidy “detected” or “undetected”, and not risk rates as in traditional non-invasive tests.

Sorgente Genetica relies on procedures that make the execution of the test simple and safe:

1. home sampling  (at customer request) with dedicated staff;
2. kit with a spare vial  in the event that the first sampling is unsuccessful and IATA certification stating the successful result achieved for all drop tests;
3. daily shipments  of kits to test labs with arrival within 24 hours from shipment;
4. medical reports accompanied by a technica l report by a qualified geneticist.

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When to perform the AURORA prenatal test?

The AURORA test can be performed starting from the 10th week of pregnancy.

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Who can undergo the AURORA test?

The test can be performed by all couples who wish to get more information on their  fetus’s health. There are specific cases in which the test is particularly recommended:

• advanced maternal age (>35 years);
• positive screening test for the first/second quarter (Double/Triple Test);
• pregnancies in which invasive prenatal diagnosis is contraindicated (e.g. risk of spontaneous miscarriage);
• ultrasound picture suggesting fetal abnormalities;
• Personal/family case history of chromosomal abnormalities.

The AURORA test is available for singleton or twin pregnancies resulting from natural conception or with techniques of medically-assisted fertilization (ART).

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How to order the AURORA test kit?

To order the AURORA test kit you just need to call us at 0236705871. Our experienced biotechnologists are at your disposal to give you all the necessary support.

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How is the AURORA test performed?

To perform the AURORA test you need to contact Sorgente Genetica by calling 02 36705871 and schedule a date for the blood sampling. Once the payment for the test has been made, Sorgente Genetica confirm the booking of the blood sampling and manage the shipment of the blood collected to the lab. The blood draw can be performed either at the surgery of the patient’s gynaecologist -  assisted by an Operator of Sorgente Genetica -, at an associated collection point, or at the patient’s domicile (sampling at a non-associated lab is not included in the service). Finally, read and interpret the results with your gynaecologist (doctor/specialist).

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How accurate is the test?

The reliability of the AURORA test is higher than 99.9% (in relation to the most frequent trisomies, Down Syndrome and Edwards Syndrome).

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Is the AURORA test  similar to first and second quarter screening tests?

No, the Aurora test is not similar to first and second quarter screening tests. The Aurora tests detects and measures in maternal blood the amount of free circulating fetal DNA of chromosomes 13, 18, 21, X and Y. By means of this measurement, the Aurora test is able to determine with great accuracy the presence in the fetus of any trisomies or aneuploidies. On the contrary, first and second quarter screening tests measure the amount of certain substances in maternal blood associated with certain chromosomal disorders.

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