PrenatalSAFE Benefits | Genoma Group

Test Performance

Reliability

PrenatalSAFE^® test has a sensitivity and specificity higher than 99% with a very low incidence of false positives, below 0,1% of cases.

PrenatalSAFE^® KARYO PLUS highlights the 99,1% of fetal chromosomal aneuploidies observed at the delivery, reaching a detection rate level very similar to the one of traditional fetal karyotype (96.9) and molecular fetal karyotype obtained through invasive prenatal diagnosis techniques.

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

Response and report delivery

Reporting Times

tecnologia FAST
Thanks to the recent introduction in the clinical practice of PrenatalSAFE^® test of the high resolution FAST^§ Technology (read depth ~ 30 millions sequences), the exam results will be available only after 3-4 working days, maintaining the same sensitivity and specificity parameters.

FAST procedure is applicable only to
PrenatalSAFE^®3, PrenatalSAFE^®5 , PrenatalSAFE^® KARYO e PrenatalSAFE^® COMPLETE tests

Type of the exam	FAST Procedure	STANDARD Procedure
PrenatalSAFE^® 3	3 days	3 days
PrenatalSAFE^® 5	3 days	3 days
PrenatalSAFE^® Plus	5 days	7 days
PrenatalSAFE^® Karyo	4 days	5 days
PrenatalSAFE^® Karyo Plus	5 days	7 days
PrenatalSAFE^® COMPLETE	4 (10-15) days ***	5 (10-15) days ***
PrenatalSAFE^® COMPLETE Plus	5 (10-15) days ***	7 (10-15) days***
PrenatalSAFE^® FULL RISK	5 days - 10/15 days - 15/20 days ****	7 days - 10/15 days - 15/20 days ****

*** PrenatalSAFE^® COMPLETE test report consists of two reports: one for the non-invasive analysis of the fetal karyotype (PrenatalSAFE^® Karyo) that will be provided in 4-5 business days, and another for inherited or de novo genetic pathologies (GENESAFE™ Complete) which will be available after 10-15 business days.

**** PrenatalSAFE^® FULL RISK test report report consists of three different reports: one for the PrenatalSAFE^® Karyo Plus which will be provided in 5-7 business days, one for GENESAFE™ Complete which will be available after 10-15 business days, and another for GeneScreen^® FOCUS which will be available after 15-20 business days.

^§ The above-mentioned reporting times, however, are not peremptory and could be extended in case of exam repetition, not optimal results, diagnostic investigations, or interpretative doubts.

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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Other prenatal diagnosis techniques

Comparisons

PrenatalSAFE vs Bitest

▪ Targeted analysis, limited to 5 chromosomes
▪ Low resolution sequencing (reading depth ~1-6 million of sequences)
▪ Analysis limited to 5 chromosomes (21, 18, 13, X, Y)
▪ The algorithm carries out a risk analysis, associating the data obtained from the examination with external data (ex. pregnant woman’s age, ultrasound comparisons), producing a “risk score”
▪ High/Low risk results, similarly to the Bi-Test
▪ Longer reporting times (~10-15 working days)
▪ High percentage of test repetition (4-12%)
▪ Only some commercial tests do not allow the analysis in case of pregnancy by artificial insemination or heterologous
▪ They require a collection of 20 ml of blood and the use of 2 tubes

Comparison with invasive Prenatal Diagnosis

PrenatalSAFE^® 3 e 5 tests allow to highlight, respectively, the 71% and the 83.1% of the chromosomal abnormalities observable during pregnancy. With PrenatalSAFE^® Plus test the detection rate reaches the 86%.

PrenatalSAFE^® COMPLETE test represents the highest level of in-depth analysis available today for non-invasive prenatal tests on circulating free DNA in maternal blood. The test allows to measure the 95.5% of chromosomal abnormalities detectable during pregnancy (KaryoPlus level of investigation) reaching a detection rate level very similar to that of the traditional fetal karyotype (96.9%), obtained through invasive prenatal diagnosis techniques. Furthermore the test adds to these potentialities even the ability to detect mutations responsible of severe genetic disorders (association with GeneSafe^TM test).

Alternatives: invasive prenatal diagnosis

The non-invasive prenatal exam that analyzes fetal DNA present in maternal blood is just one of the options for the pregnant woman to determine the risk of chromosomal pathologies during pregnancy.

There are several screening that can be performed.
In particular, a more accurate cytogenetic analysis can be obtained through the “invasive prenatal diagnosis”, which can be performed on chorionic villi or amniotic fluid.

Chorionic villi collection (placental tissue that, although separated from the fetus, it contains the same DNA), or chorionic villus sampling, is performed between the 11th and the 12th week of gestation and consists in the collection, under ultrasound control, of a little sample of chorionic villi through an injection across the maternal abdomen. This collection implicates an abortion risk lower than 2%.
The cytogenetic testing is conducted on the DNA extracted by the fetal cells contained in chorionic villi.

The collection of the amniotic fluid, or amniocentesis, is performed through an ultrasound-guided transabdominal injection between the 16th and the 18th week of pregnancy and implicates a risk of miscarriage lower than 1%.
In this case, the cytogenetic testing is conducted on the fetal cells present in the amniotic fluid.

The aforementioned investigations can, furthermore, provide a complete chromosomal analysis of the fetus and are particularly recommended to pregnant women over the age of 35.

Why choose PrenatalSAFE

BENEFITS

PRE-TEST AND POST-TEST GENETIC COUNSELLING

In order to explain to patients the aims of the analysis, the achievable results and those emerged upon completion of the exam.

FAST Procedure

Thanks to the recent introduction of the new high-resolution FAST Technology, the exam results will be available after only 3-5 working days.

RhSafe® Test

Non-invasive prenatal exam that allows determining the fetal Rh(D) Factor. The RhSafe® test is optional and is performed for free (upon request) in Rh(D) negative pregnant women.

FREE FOLLOW-UP OF ABNORMAL RESULTS

Chorionic villus sampling or Amniocentesis free at reference gynecologists affiliated with Genoma. Free follow-up of abnormal result in case of positive outcome for aneuploidy, structural chromosomal abnormality or presence of genetic mutation.

Kit di prelievo e trasporto dei campioni

SAMPLES COLLECTION AND TRANSPORT KIT

Certification in accordance with UN3373 and free shipping service of biological samples at our laboratories.

ALL INCLUSIVE CUSTOMER SERVICE

From the sample shipping to the reporting, information on collection methods and samples conservation.

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 brochures for patient.

Benefits of PrenatalSAFE Test