Information

Additional information about PrenatalSAFE test
Referral centres in Italy where to perform PrenatalSAFE

Where to perform the collection

Centri di riferimento in Italia dove effettuare il PrenatalSAFE

For patients located in Rome or nearby, it is possible to perform the blood collection at our headquarters in Via di Castel Giubileo 11 , every day from Monday to Friday, from 8:00 AM to 6:00 PM, and Saturday morning from 9:00 AM to 1:00 PM.
For patients located in Milan or nearby, it is possible to perform the blood collection at our headquarters in Via Enrico Cialdini 16 (Affori Centre) , every day from Monday to Friday, from 9:00 PM to 6:00 PM
To perform the collection you just need to book by phone.

For patients located out of Rome or Milan, it is not necessary to go to GENOMA headquarters to perform the sampling for PrenatalSAFE® test. Once received your request, our laboratory will send you the transport and shipping kit for the blood samples, for free, to the indicated address, and will be delivered within 2 working days.

NEWS: from today, home delivery service!
Thanks to our network, now it is possible to perform the collection not only at our referral centers spread in all Italian territory, but also at home! Contact us to ask for more information about the home collection service!

Afterward, you can go to your trusted gynecologist or your referral laboratory, bringing with you the PrenatalSAFE® transportation kit received. If you prefer we can suggest you a trusted laboratory/doctor. Thanks to our network of certified facilities, it is possible to perform PrenatalSAFE® all over Italian territory. Detailed information about the referral centre in which you can go for the blood sampling, will be provided with the transport package after your request.

Consult the map shown above, to find the GENOMA referral centre for PrenatalSAFE® test. Detailed information about the referral centre in which you can go for the blood sampling, will be provided with the transport package after your request. Because of the numerous attempt by the competition to acquire information on the identity of the laboratories that are part of the aforementioned network, it is not possible to provide the patients with the location of the referral centers by telephone.

Our numbers

Reliability without comparison

%
SENSITIVITY AND SPECIFICITY OF THE TEST
DAYS TO RECEIVE THE REPORT
PROFESSIONALS AT YOUR SERVICE
YEARS OF EXPERIENCE IN THE FIELD
Presence or absence of fetal chromosomal aneuploidies

Information about the report

Achievable results with PrenatalSAFE® test



“POSITIVE“ - Aneuploidy detected
It indicates the test produced a result compatible with a fetal chromosomal aneuploidy, on one (or more) of the chromosome investigated.

The reliability of the result is reported in the “Results” section of the report and in the “Accuracy of the test” section of the technical report. This result indicates that the fetus presents one of the chromosomal condition indicated but does not ensure that the fetus has that condition. The follow-up recommended is an invasive prenatal diagnosis test, like the Chorionic Villus Sampling or Amniocentesis. The geneticist, during counseling will explain in a detailed way the test result and will recommend confirming the result by invasive prenatal diagnosis. In no way it is possible to use the Law 194/78 on the voluntary interruption of the pregnancy without having confirmed the test result by amniocentesis or chorionic villus sampling first



“NEGATIVE” - No aneuploidy detected
It indicates the test did not detect aneuploidies on the chromosomes examined, within the limits of resolution of the method.

The reliability of the result is written in the “Results” section of the report and in the “Accuracy of the test” section of the technical report. This result indicates the fetus does not show aneuploidies on the chromosomes investigated, but does not ensure the fetus is healthy for these anomalies. In some cases the test may produce a non-optimal result. In this case a new blood sample of the pregnant woman will be requested in order to repeat the exam. In other cases the assay may produce a result indicating a suspected presence of chromosomal aneuploidy (borderline result). In this circumstance is recommended to confirm the result through invasive prenatal diagnosis. In case in which the fetal sex analysis is also requested, the result can also be provided.

In some cases, the assay may produce a result indicating an aneuploidy suspected (borderline result). In this circumstance is recommended to confirm the result through invasive prenatal diagnosis, as well as for a positive result.

Achievable results with PrenatalSAFE® Complete test



“POSITIVE“
The test detected one or more mutations on one or more genes investigated.

This result is compatible with a high risk for a specific genetic disorder. The reliability of the result is reported in the “Results” section of the report and in the “Accuracy of the test” section of the technical report. This result indicates that the fetus presents one of the chromosomal condition indicated but does not ensure that the fetus has that condition. The follow-up recommended is an invasive prenatal diagnosis test, like the Chorionic Villus Sampling or Amniocentesis. The Genoma Group geneticist (or in general a genetic specialist), during counseling, will explain in a detailed way the test result and will recommend confirming the result by invasive prenatal diagnosis. In no way it is possible to use the Law 194/78 on the voluntary interruption of the pregnancy without having confirmed the test result by amniocentesis or chorionic villus sampling first.



“NEGATIVE”  
The test did not detect any mutation, de novo or inherited from parents, with known pathological significance or mutations in compound heterozygosity or homozygosity, in case of inherited genetic disorders.

This result is compatible with a high risk for a specific genetic disorder. The reliability of the result is reported in the “Results” section of the report and in the “Accuracy of the test” section of the technical report. This result, however, considerably reduces the possibility that the fetus has the genetic disorders examined but does not ensure that the fetus has that condition. In some cases (about the 1%) the test may produce a non-optimal or non-conclusive result. In these circumstances, for a better interpretation of the results, may be necessary also to examine a paternal blood sample.



GeneSAFE™ test only identify mutations with a known pathological significance. The test does not detect variations with benign significance, i.e. those observed in normal individuals and are lacking of pathological significance, and variations with likely clinical significance, i.e. those not known or characterized by the medical-scientific community yet.

PrenatalSAFE® SAMPLE LAB REPORTS

THE MOST INNOVATIVE AND COMPLETE PRENATAL "MADE IN ITALY" TEST

PrenatalSAFE® is the most complete and innovative non-invasive prenatal test on fetal DNA in maternal blood available today, and is performed entirely in ITALY at GENOMA Group laboratories.

No level of investigation of PrenatalSAFE® tests is sent in service to laboratories located abroad


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PrenatalSAFE test indications

Supplementary tests

Upon specific request, it is possible to gather PrenatalSAFE® test also with parents’ karyotype

It is also possible to perform:

GeneScreen ® test
couple screening for some of the most recurring genetic disorders, such as Cystic Fibrosis, Fragile X Syndrome (mental retardation), Beta Thalassemia, Congenital Hearing Loss, Duchenne-Becker Muscular Dystrophy, Spinal Muscular Atrophy, etc.

RhSafe ® test
Non-invasive prenatal exam that, analyzing the fetal DNA isolated from a blood sample of the pregnant woman, allows determining fetal Rh(D) Factor. The RhSafe® test is optional, and is performed for free (on request) in Rh(D) pregnant women, with Rh(D) positive male partner.

 
Useful documents for the performing of the test

Useful forms

Fill out carefully, in all its parts, test requisition form in order to avoid delays and ensure delivery times.

Fill out in all its parts and sign the informed consent form included inside the transport box.

Attach the above-mentioned form to the samples to send to our laboratory.

In order for the sample to be accepted for the completion of the exam it is important to verify that the patient’s First Name, Surname, and date of birth written on the form are the same as those on the labels of the test tube



Optional Documents

Frequently asked questions about PrenatalSAFE test

FAQ



In this section you will find the FAQ list

What is PrenatalSAFE® test ?

PrenatalSAFE® test is the first prenatal test able to detect from the most common fetal aneuploidies (13, 18, 21, X and Y) to the rarest aneuploidies (all chromosomes of the fetal karyotype) reaching a level of information that is possible today through invasive techniques. PrenatalSAFE® is also the only non-invasive prenatal test able to highlight structural sub-chromosomal abnormalities on the entire fetal karyotype and mutations related to severe genetic disorders. The test provide information about the sex of the fetus (optional).

Which information PrenatalSAFE® test is able to provide?

PrenatalSAFE® 3 determines the presence of the most common fetal trisomies, like those of chromosomes 21, 18 and 13, analyzing circulating fetal DNA in maternal blood.
PrenatalSAFE® 5 detects the presence of fetal aneuploidies of the chromosomes 21, 18, 13 and of the sex chromosomes (X and Y), and includes the determination of the fetal sex (optional).
PrenatalSAFE® PLUS,in addition to PrenatalSAFE® 5 test, provides a further study to identify the trisomies of chromosomes 9 and 16 and the presence of some small structural chromosomal abnormalities, i.e. 6 among the most common microdeletions syndromes.
PrenatalSAFE® KARYO is the first non-invasive prenatal screening test able to detect aneuploidies and structural chromosomal abnormalities (deletions and segmental duplications) on every chromosome of the fetal karyotype reaching a level of information comparable to that obtained through invasive techniques.
PrenatalSAFE® KARYO PLUS adds to PrenatalSAFE® KARYO potential the study of 9 among the most common microdeletion syndromes.
PrenatalSAFE® COMPLETE is the first non-invasive screening test able to detect aneuploidies on every chromosome of the fetal karyotype and mutations responsible of severe genetic disorders. The test is the union of PrenatalSAFE® KARYO and GeneSAFE™, a new screening test that allows detecting both hereditary and de novo genetic disorders in the fetus.
PrenatalSAFE® COMPLETE PLUS includes PrenatalSAFE® KARYO PLUS, adding to PrenatalSAFE® KARYO potential the study of 9 among the most common microdeletion syndromes, and and GeneSAFE™, a new screening test that allows detecting both inherited and de novo genetic disorders in the fetus.

Who can undergo PrenatalSAFE® non-invasive prenatal test?

PrenatalSAFE® can be performed by pregnant women with a gestational age of at least 10 weeks. PrenatalSAFE® can be performed on singleton pregnancies, pregnancies from in vitro fertilization (FIV, ICSI) both homologous and heterologous, twin pregnancies even if achieved with assisted, homologous and heterologous fertilization techniques. PrenatalSAFE®COMPLETE and PrenatalSAFE® COMPLETE PLUS are especially recommended in case of couples with advanced paternal age.

When is it possible to perform PrenatalSAFE® test ?

PrenatalSAFE® is performable starting from the 10th week of gestation. There is no deadline for performing the test because the free fetal DNA circulates in the mother’s bloodstream for the whole pregnancy.

How is PrenatalSAFE® test performed ?

A simple blood sample from the future mother is requested. You do not need to be fasted to perform it.

How accurate is PrenatalSAFE® test?

PrenatalSAFE® test has a sensitivity and specificity higher than 99% with a very low incidence of false positives, below the 0,1% of cases. PrenatalSAFE® detects abnormalities of the fetal genome even at low quantities of fetal DNA (FF: 2%).

 

What kind of information is written in PrenatalSAFE® test reports?

The results of the exam are provided in a clear and definite terms, as POSITIVE or NEGATIVE, i.e. presence/ absence of the abnormalities founded in the limits of the method employed.

Is PrenatalSAFE® test similar to other first and second trimester screening test?

No, it isn’t. Screening tests are indirect statistical tests based on ultrasound exams on the fetus and/or biochemical investigations on maternal blood, by which some substances are measured that can vary in quantities if some chromosomal pathologies are present. PrenatalSAFE® test while remaining a screening test is a direct analysis of free fetal DNA and analyzes circulating fetal DNA on maternal blood with great accuracy.

Is PrenatalSAFE® more reliable than non-invasive prenatal screening test currently available?

Prenatal screening tests, such as the bi test, may present a high risk for fetal trisomy even if it is actually a negative (false positive) result or may present a low risk for fetal trisomy, when it’s actually a positive pregnancy (false negative). These non-invasive tests, such as the combination of free-b-HCG and PAPP-A proteins with nuchal translucency, have a false positives rate of up to 5% and do not detect about 10-15% of fetal trisomy 21 cases. With PrenatalSAFE® test the percentage of false negatives and positives decrease to 0,1%.

Is PrenatalSAFE® a safe test or does it implicate risks?

Performed through a common blood sampling, PrenatalSAFE® test is completely safe for both the mother and the fetus. Diagnostic tests such as amniocentesis or chorionic villus sampling, although accurate for the diagnosis of fetal trisomies, are invasive and present a non-negligible abortion risk and require an appropriate antibiotic therapy.

Why choose PrenatalSAFE® compared to other fetal DNA analysis test from maternal blood?

Every PrenatalSAFE® uses a NGS (Next Generation Sequencing) sequencing technology of the human genome-wide, contrary to other tests available on the market that employ a targeted diagnostic strategy in which the process is limited only to chromosomes 21, 18, 13, X and Y.
The benefits produced by this technology are remarkable:

  • Possibility of analysis of the genome-wide for aneuploidies and structural abnormalities on every chromosome.
  • Possibility of detecting mutations responsible of severe genetic disorders.
  • High sensitivity, even at a low percentage of fetal fraction, with consequent reduction of the incidence of need for a new collection (<1%);
  • Greater reliability of results, with a consequent increase in the detection rate (>99%) and reduction in the incidence of false positives (<0.1%),
  • Use of a latest generation bioinformatics analysis algorithm that evaluates real (quantitative) data deriving from the sequencing analysis, without associate them to risk assessment in advance (ex. patient age) or to the gestational age or to the patient weight.
  • Test results provided in clear and definite terms, as POSITIVE or NEGATIVE, i.e. presence/absence of abnormality, and no longer in terms of percentage of risk (high/low risk) as in the case of the 1st and 2nd trimester screening test;
  • Test performable even in pregnancies achieved with artificial insemination (homologous or heterologous):
  • Reduction of reporting times (up to three working days);
  • Less blood required for the test (8-10 ml in a single test tube).
In addition, PrenatalSAFE® is entirely performed in ITALY, at our laboratories in Rome and Milan. Contrary to other tests on the market, it is NOT sent in service at any stage of the process to third-party facilities located in the USA or CHINA.


 

What are the free services offered with PrenatalSAFE® test?

  • Pre- and post- test genetic counseling: in order to explain to patients the purposes of the analysis, the achievable results and those emerged at the completion of the exam.
  • Follow-up of abnormal results: through the performing of fetal karyotype from amniotic fluid or chorionic villi.
  • Blood samples transport containers: certified according to UN3373, and free shipping service of biological samples to GENOMA laboratory by express courier.
  • Free collection at a laboratory/doctor of the certified facilities network for the performing of PrenatalSAFE® test, in case in which the patient requires to perform the collection at a trusted referral center.
  • All inclusive customer service: from the sample shipping to the reporting.
  • Scientific and specialistic support: Molecular biologists and qualified geneticists are always available to assist clients in interpreting results.
  • Educational: GENOMA provides its clients the informative material for Doctors and information brochure for patient.

 

What are fetal aneuploidies?

They are chromosomal abnormalities characterized by alterations in the number of chromosomes, i.e. by a greater or lesser number of chromosomes compared to the standard number. A trisomy can be defined as the presence of an extra chromosome, while we can define monosomy as the absence of a chromosome.

TRISOMY 21
This is caused by an extra copy of chromosome 21 and is also called Down syndrome. This is the most common genetic cause of intellectual disability. Individuals with Down syndrome have an average IQ of 50 and all have some degree of intellectual disability. Some children with Down syndrome have defects of the heart or other organs that may require surgery or medical treatment. Some have other medical conditions including hearing or vision loss.

TRISOMY 18

This is caused by an extra copy of chromosome 18 and is also called Edwards Syndrome. This causes severe intellectual disability. Most babies with Trisomy 18 have multiple severe birth defects of the brain, heart and other organs. Poor growth during pregnancy is common and many babies are miscarried or stillborn. Of those babies born alive, most die before one year of age. Babies who survive have profound intellectual disabilities and growth and development problems.

TRISOMY 13
This is caused by an extra copy of chromosome 13 and is also called Patau Syndrome. This causes severe intellectual disability. Most babies with trisomy 13 have multiple severe birth defects of the brain and other organs. Many babies are miscarried or stillborn. Of those babies born alive, most die before one year of age.

Sex Chromosomes Aneuploidies (X, Y)

The PrenatalSafe® prenatal test also gives your healthcare provider the option to test for changes in the number of sex chromosomes. Sex chromosome aneuploidies are conditions in which there is a change from the usual 2 copies of sex chromosomes in males (XY) or females (XX). About 1 in 400 babies that are born will have a sex chromosome aneuploidy. The most common sex chromosome aneuploidies are caused by a missing sex chromosome in girls (45,X or monosomy X, also called Turner syndrome) or an extra chromosome in boys or girls (47,XXY (Klinefelter syndrome), 47,XYY, or 47,XXX). Children with a sex chromosome aneuploidy can have difficulties with language skills, motor skills, and learning, but can lead healthy and productive lives.

What are Microdeletions/Microduplications?

Microduplications and microdeletions are structural chromosomal abnormalities characterized by the loss (microdeletion) or the duplication (microduplication) of a small piece of chromosome material and, therefore, of the genes located on that chromosome fragment. These alterations cause syndromes of clinical importance depending on the chromosome involved, the region involved and the size of the region duplicated or lost. These types of chromosomal abnormalities are not detectable with traditional cytogenetic techniques.

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