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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