Prenatal Screening Tests
Prenatal screening tests are analyses that are performed during pregnancy to check the fetal health status.
They make it possible to detect early diseases caused by DNA alterations and abnormalities in the number or structure of chromosomes.
Being informed is the first step to obtaining the best childbirth assistance or undertaking, when possible, a therapeutic course before or immediately after the birth of the baby.
At Eurofins Genoma we provide different prenatal screening tests, from the most classic to the most innovative, to detect chromosomal abnormalities and fetal genetic diseases.
OUR PRENATAL SCREENING TESTS:
- Prenatalsafe®
- Genesafe®
- Test to assess the risk of preeclampsia
- Prenatalscreen®
- Classic and molecular karyotype
Prenatalsafe® is the most complete non-invasive prenatal screening test that analyzes fetal DNA extracted from a maternal blood sample.
It allows you to identify the presence of abnormalities in chromosomes, both in number (aneuploidies) and in structure. Abnormalities that are the basis of some of the most common genetic diseases.
It offers 9 levels of depth, thanks to which it is possible to obtain an extremely complete informational picture starting from the 10th week of pregnancy.
What are aneuploidies?
Aneuploidies are genetic abnormalities, characterized by a higher or lower number of chromosomes than the standard number, leading to deficits or disabilities.
How is it done?
The Prenatalsafe® test is performed with a simple maternal blood sample.
Prenatalsafe® minimizes the risks of abortiveness related to traditional invasive prenatal diagnostic techniques, such as amniocentesis and chorionic villus sampling.
Simple
A simple mother’s blood sample is required at the 10th week of gestation.
Safe
It is a non-invasive test, reducing the risks of abortion present in traditional invasive prenatal diagnostic techniques, such as amniocentesis and villocentesis.
Fast
Thanks to the high-resolution FAST protocol, test results will be available after just 3 working days.
Complete
It is 99.9% reliable. It can detect anomalies even if there is a low amount of fetal DNA in maternal blood, unlike other tests that require a higher amount of fetal DNA.
Clear Results
Definite outcome: positive or negative test result
Prenatalsafe® is available in 9 versions, each with a different level of depth.
It is available throughout Italy and the analyses are performed at the Eurofins Genoma laboratories in Milan, Rome and Florence.
3
Evaluates the aneuploidies of chromosomes 21 (Down syndrome), 18 (Edwards syndrome), 13 (Patau syndrome), and includes the determination of fetal sex (optional).
5
Evaluates the aneuploidies of chromosomes 21 (Down syndrome), 18 (Edwards syndrome), 13 (Patau syndrome) and sex chromosomes, and includes the determination of fetal sex (optional).
5DiGeorge
Evaluates the aneuploidies of chromosomes 21 (Down syndrome), 18 (Edwards syndrome), 13 (Patau syndrome), sex chromosome aneuploidies and the microdeletion of chromosome 22 (DiGeorge syndrome).
Plus
In addition to what is provided by the Prenatalsafe® 5 test, it also includes the option for further investigation to identify trisomy of chromosomes 9 and 16 and the presence of structural chromosomal alterations, i.e. 6 of the most common microdeletion syndromes.
Karyo
Detects fetal aneuploidies and structural chromosomal alterations in every chromosome (deletions and segmental duplications).
Karyo Plus
Adds the study of 9 of the most common microdeletion syndromes to the capabilities of Prenatalsafe® Karyo.
Complete
It is one of the most technologically advanced non-invasive prenatal tests.
By analyzing the circulating fetal DNA in maternal blood, it is capable of performing the fetal karyotype screening and serious fetal genetic diseases.
Complete Plus
Adds the study of 9 of the most common microdeletion syndromes to the capabilities of Prenatasafe® Complete.
Full risk
Add the Genescreen® focus test, a carrier screening for both parents that identifies mutations related to recessive hereditary diseases that can potentially be transmitted to the fetus, to the benefits of Prenatasafe® Complete Plus.
A complete and innovative non-invasive prenatal test, suitable for any different need.
Who we recommend Prenatalsafe®to
The Prenatalsafe® examination is the best test in the following cases:
Pregnancies in which prenatal invasive diagnosis is contraindicated (e.g. risk of spontaneous abortion)
First trimester (bi-test) positive
Advanced maternal age (>35 years)
Advanced paternal age (>40 years)
Previous cases of chromosomal anomalies in the family
Parent carrying a balanced translocation
Prenatalsafe® tests can be performed starting from the 10th week of gestation (calculated from LMP) and every future mother can undergo the tests.
Eurofins Genoma offers free consulting to advise on the most appropriate analysis for each couple’s needs.
Prenatalsafe® is useful in the following cases:
Single
pregnancies
Obtained through natural conception or assisted fertility techniques.
Twin
pregnancies
Obtained through natural conception or assisted fertility techniques.
Previous
miscarriages
Pregnancies ended with spontaneous abortion or voluntary interruption.
Get your results in record time:
Test | Turnaround Time |
---|---|
Prenatalsafe® 3 | 3 business day |
Prenatalsafe® 5 | 3 business day |
Prenatalsafe® 5DiGeorge | 3 business day |
Prenatalsafe® Plus | 5 to 7 business day |
Prenatalsafe® Karyo | 4 to 5 business day |
Prenatalsafe® Karyo Plus | 5 to 7 business day |
Prenatalsafe® COMPLETE | 4 to 15 business day |
Prenatalsafe® COMPLETE Plus | 5 to 15 business day |
Prenatalsafe® FULL RISK | 5 to 20 business day |
Test |
---|
Prenatalsafe® 3Turnaround Time: 3 business day |
Prenatalsafe® 5Turnaround Time: 3 business day |
Prenatalsafe® 5DiGeorgeTurnaround Time: 3 business day |
Prenatalsafe® PlusTurnaround Time: 5 to 7 business day |
Prenatalsafe® KaryoTurnaround: 4 to 5 business day |
Prenatalsafe® Karyo PlusTurnaround Time: 5 to 7 business day |
Prenatalsafe® COMPLETETurnaround Time: 4 to 15 business day |
Prenatalsafe® COMPLETE PlusTurnaround Time: 5 to 15 business day |
Prenatalsafe® FULL RISKTurnaround Time: 5 to 20 business day |
All the answers you need for the well-being of your family.
Genesafe® is a non-invasive test that detects both inherited and non-inherited genetic diseases in the fetus by analyzing the fetus’ DNA present in maternal blood.
How is it performed?
The Genesafe® test is performed with a sample of maternal blood taken from the 10th week of pregnancy.
What does maternal blood contain?
During pregnancy, some fragments of fetal DNA circulate in maternal blood, in varying amounts depending on the week of pregnancy. This DNA is detectable from the 5th week of pregnancy; its concentration increases in subsequent weeks and disappears immediately after birth.
The amount of DNA from the 10th week of pregnancy is sufficient to ensure the high reliability of the test.
Genesafe®: for greater peace of mind during pregnancy.
Simple
A simple blood sample from the mother at the 10th week of pregnancy is required.
Safe
Eliminates the risks of abortion that are otherwise found with invasive prenatal diagnosis.
Fast
Results in just 10-15 working days.
Complete
Allows you to identify both mutations inherited from parents and mutations that occur for the first time in the fetus.
Three levels of investigation are included:
Inherited
Test that allows you to identify hereditary genetic diseases in the fetus.
De novo
This non-invasive prenatal examination allows you to analyze genetic diseases that are related to advanced paternal age.
Completed
Test that allows you to identify both hereditary and de novo genetic diseases in the fetus.
Who do we recommend Genesafe® to?
It is suitable for any type of pregnancy
It is indicated in case of couples where the male partner is advanced in age (>40 years)
It is useful for pregnant women who want to reduce the risk of fetal genetic disease
It is recommended in case of contraindications to invasive investigations
It can be performed in case of single or twin pregnancies obtained either through natural conception or PMA technique
Genesafe® uses technology that guarantees:
- High sensitivity, as it detects alterations even with low amounts of fetal DNA
- Test reliability of over 99%
All non-invasive tests performed at Eurofins Genoma include:
- Free results control
- Free chorionic villus sampling or amniocentesis performed by gynecologists affiliated with Eurofins Genoma
- Refund in case of unobtainable result due to insufficient fetal DNA or inconclusive result
Genesafe® protects you, to live pregnancy with serenity and awareness.
The preeclampsia screening test evaluates the probability of the disorder occurring during pregnancy. It is potentially dangerous for both the mother and the baby and manifests in the pregnant woman with the appearance of hypertension and loss of proteins in the urine.
Its onset can cause slowing of the fetus growth, premature birth, detachment of the placenta, and other serious risks to the mother’s health.
Currently, preeclampsia affects about 2-8% of pregnancies and is the main cause of maternal and neonatal mortality.
How is it performed?
The preeclampsia test is performed from the 11th to the 14th week of pregnancy and only requires a blood sample from the pregnant woman, measurement of maternal blood pressure, and an ultrasound.
Why is it important?
The preeclampsia test in the first trimester allows for early identification of women at risk and planning for careful monitoring.
The importance of the test is also due to the fact that, in case of high-risk pregnancies, prophylaxis can be performed to reduce the probability of preeclampsia and the associated risks.
All the advantages of the test
- It does not pose any risk to the mother or fetus
- It is non-invasive
- It allows for timely identification of the risk of preeclampsia and, in the case of high-risk pregnancies, allows for intervention in time to reduce the symptoms of the condition
- It is performed in a phase of pregnancy in which it is still possible to improve the conditions of the maternal arteries and therefore increase the flow of blood and nutrients to the fetus
- Thanks to the combination of biophysical parameters high accuracy (93%) can be achieved
- It has a low incidence of false positives (5%)
Prenatalscreen® is a sophisticated prenatal genetic test performed through amniocentesis or chorionic villus sampling. With a single sample, it allows for the analysis of over 1,000 genetic diseases in the fetus, including the most common in the Italian population, such as cystic fibrosis, sickle cell anemia, thalassemia, spinal muscular atrophy, and hereditary deafness.
Who we recommend PrenatalScreen® for
Those who have personal or family history of hereditary genetic diseases
Those who wish to diagnose genetic diseases in the fetus early on.
For all pregnancies obtained through natural conception or medically assisted reproduction (MAR)
For couples who have used heterologous fertilization techniques.
In case of ultrasound doubts that may indicate a genetic disease
How is it performed?
Prenatalscreen® on chorionic villi is performed through abdominal retrieval of chorionic villi between the 11th and 13th weeks of pregnancy.
Prenatalscreen® on amniotic fluid is performed through abdominal retrieval of amniotic fluid between the 15th and 18th weeks of pregnancy.
Provides two levels:
Focus
It is a test that allows the analysis of 31 genetic diseases including the most common ones in the Italian population, such as cystic fibrosis, sickle cell anemia, thalassemia, and hereditary deafness.
Standard
It is a test that allows the study of a large number of genes and over 1,000 genetic diseases, including the most common ones in the Italian population and clinically more relevant.
Prenatalscreen® shows accuracy above 99%.
The karyotype, or chromosomal analysis, is a test that allows the detection of any anomalies in an individual’s chromosomes. The purpose of this analysis is to identify any anomalies responsible for different diseases.
There are two different types of karyotype tests: classic and molecular.
Classic Karyotype classico
The classic karyotype only reveals numerical and structural anomalies of large size. However, it does not detect diseases or chromosomal alterations of small size.
How is it performed?
The karyotype test is performed with a simple blood sample from the future parents.
Why is it important?
Chromosomal alterations in healthy individuals can cause infertility, multiple abortions, and the birth of children with chromosomal anomalies.
However, even women with a normal karyotype have a risk of producing a percentage of eggs with chromosomal anomalies. This percentage increases with age and this is why it is advisable to perform fetal karyotype analysis after the age of 35.
Molecular karyotype
Thanks to recent scientific advancements, it is now possible to examine chromosomes in a more in-depth and accurate manner, using the molecular karyotype, a diagnostic procedure that employs an innovative molecular technique and allows for the identification of submicroscopic chromosomal alterations, not evident through traditional karyotyping.
How is it performed?
The molecular karyotype test is performed on a sample of fetal cells present in the amniotic fluid, through amniocentesis, or from the chorionic villi, through chorionic villus sampling.
Why is it important?
This technique is particularly indicated for pregnancies with ultrasound evidence of chromosomal pathology. The molecular karyotype represents the ideal diagnostic procedure to accurately define any chromosomal anomalies not evident with the use of the classic karyotype.
Rapid reporting
It is possible to obtain the report of the in-depth chromosomal analysis in just 2-3 days, and without the risk of having to repeat the sample.
High accuracy
The molecular karyotype examination is up to 100 times more accurate than traditional cytogenetic tests. In fact, it allows for the rapid study of over 100 pathologies caused by chromosomal alteration such as Di George syndrome, Williams syndrome, and other important pathologies.
All the advantages of the test
- Guarantees a more peaceful pregnancy, reducing the fear of any chromosomal anomalies in the fetus
- Provides a much quicker result compared to other techniques (in just 2-3 days).
- Is up to 100 times more accurate than traditional cytogenetic techniques.
- Has a reduced risk of error
- Allows for the analysis of 100 pathologies related to chromosomal alterations
- Allows for early management of any therapeutic intervention, in case of a positive result for a pathology