WE CANNOT HAVE CHILDREN AND WE WANT TO CHOOSE ASSISTED FERTILIZATION

Eurofins Genoma evaluates the possible presence of genetic diseases in the couple and the probability of transmitting them to future children before implantation: all the tests necessary for a safe and risk-free assisted conception.

WE CANNOT HAVE CHILDREN AND WE WANT TO CHOOSE ASSISTED FERTILIZATION

Eurofins Genoma evaluates the possible presence of genetic diseases in the couple and the probability of transmitting them to future children before implantation: all the tests necessary for a safe and risk-free assisted conception.

Some anomalies in the DNA sequence can make a person a carrier of a specific genetically transmitted disease.

Healthy carriers of genetic diseases are usually healthy individuals, free of symptoms and unaware that they are at risk of transmitting their pathology to their children.

Eurofins Genoma: conception and pregnancy tests

1 TIME OUT OF 4

The child of two healthy carriers is born with a genetic pathology.

Before proceeding with the embryo implantation, it is important to make sure you are not healthy carriers of any genetically transmitted diseases. Being aware of your pathologies is the first step to the success of fertilization and a serene and risk-free pregnancy.

Be aware and trust us: for over 20 years, Eurofins Genoma has been by your side in this journey.

All the answers you need, in a single solution designed for you.

OUR GENETIC TESTS:

  • Genescreen®
  • Chromosome test
  • Cystic fibrosis test
  • Thrombophilia test
  • X-fragile test
  • Y chromosome microdeletion test
  • Embryosafe®
  • Endometriome®

Genescreen® is a test that allows you to discover, with a single sample, if you are carriers of hereditary genetic conditions, from the rarest to the most frequent in the Italian population, such as cystic fibrosis, sickle cell anemia, thalassemia, hereditary deafness.

Genescreen® allows the couple to know, through the analysis of their DNA, if they are carriers of serious genetic diseases and if there is a risk of transmitting them to their children.

How is it done?

The Genescreen® test is performed with a simple blood sample.

When is it important to take the test?

This type of test is strongly recommended when planning to have children.

It is a useful test for all couples, regardless of their family history.

Genescreen® is a test recommended for all couples (even those without family history) to timely identify the risk of transmitting any pathology to future children.

Genescreen® identifies anomalies related to pathologies for which future parents, even if carriers, are clinically asymptomatic and do not know they have a disease.

It is a complete and exhaustive test that can identify at-risk couples for over 5000 genetic diseases.

The child of two asymptomatic parents with an anomaly may inherit the father’s and mother’s anomaly (1 case out of 4) and be affected by a serious genetic pathology.

TESTINVESTIGATION LEVEL

Focus

+30

investigated genetic diseases

Consult the list of analyzed genes

Protect

+140

investigated genetic diseases

Consult the list of analyzed genes

Easy-Donor

+450

investigated genetic diseases

Consult the list of analyzed genes

Complete

+2000

investigated genetic diseases

Consult the list of analyzed genes

Features OF THE TEST

Simple

Sample required: blood sample or oral swab

Reliable

Accuracy > 99%

Fast

Reporting times: 20 business days

Comprehensive

4 levels of depth: Focus, Protect, Easy-Donor, Complete

Cutting-edge

NGS Technology: the most advanced technology on the market

For whom is Genescreen® indicated?

Couples with a family history of genetic diseases

Couples of ethnicity at risk for genetic diseases

Couples undergoing assisted fertility treatments

Couples planning to become parents and who have never undergone genetic tests

Couples who need egg/sperm donation to reduce the probability of transmitting a condition to their children

Pregnant women who wish to investigate their condition as healthy carriers

Assisted reproductive centers

Any person who wishes to investigate their condition as a healthy carrier of genetic diseases

Choose a risk-free future: choose Genescreen®.

Pathologies with the possibility of early treatment

They can be treated immediately after birth, such as Wilson’s disease or PKU.

Intellectual disabilities

They are serious intellectual deficiencies, such as X-fragile syndrome or Niemann-Pick disease.

Pathologies with reduced life expectancy

They impose constant and continuous treatments, such as cystic fibrosis.

Pathologies with limited/no treatment possibilities

With limited/no therapeutic chance.

The chromosome test, or chromosomal analysis, is an examination that allows studying the number and structure of an individual’s chromosomes. The purpose of this test is to identify any anomalies responsible for different diseases.

Chromosome alterations in healthy individuals can cause infertility, reduced fertility, repeated miscarriage, birth of children with pathologies.

Even women with a normal karyotype, if subjected to assisted reproduction techniques, produce a percentage of eggs with chromosomal anomalies. This percentage increases with age.

How is it performed?

The chromosome test is performed with a simple blood sample.

Who do we recommend the chromosome test to?

The chromosome test is an examination we recommend to anyone who wants to start a medically assisted fertility process to avoid the birth of fetuses affected by serious hereditary pathologies.

Why is it important?

Alterations in the number or structure of the sex chromosomes (chromosome X, chromosome Y) can lead to sexual development pathologies that cause infertility.

These alterations, if present in an individual, can:

  • directly interfere with their reproductive abilities;
  • cause the formation of gametes with difficulty in fertilization (if sperm) or being fertilized (if eggs);
  • in case of successful fertilization, newborns with multiple anomalies may be born.

Cystic fibrosis is the most common severe genetic disease in the world.

It is a multi-organ disease that primarily affects the respiratory and digestive systems. It is known for its frequent lung infections and chronic respiratory problems associated with it. However, it affects organs and tissues throughout the body, including the urinary system.

The genetic test for cystic fibrosis detects if there is an error in a specific gene: if the gene contains the anomaly, it can cause the disease.

Relatives of the carrier can also benefit from the genetic test to discover if they are carriers of a healthy mutation and if they are at risk of transmitting it to their children.

How is it done?

The cystic fibrosis test is performed with a simple blood sample.

Why is it important to do the test?

In every pregnancy, there is a 1 in 4 chance that a baby with cystic fibrosis will be born from two healthy carriers.

The X-Fragile syndrome is one of the most common causes of hereditary mental retardation in the population.

It is caused by an anomaly (a mutation) in a gene located on the X chromosome. Carriers of the alteration are at risk of giving birth to a child with this syndrome. To discover if you are a carrier of the X-Fragile syndrome or conditions related to anomalies of the same gene and to determine the risk of producing offspring with this syndrome, you must undergo the X-Fragile test.

Why is it important to do the test?

In women, the mutation causes ovarian failure in 20% of cases. In cases of poor ovarian function, therefore, testing to determine if a mutation is present is very important in order to establish if there is a high risk of conceiving a child with the X-Fragile syndrome.

Thrombophilia is the excessive increase in the risk of forming clots, that is, clots that obstruct or prevent normal blood circulation.

The thrombophilia test assesses genetic predisposition to the condition and is essential to ensure that thrombophilia is not causing infertility or to verify that it is not a potential obstacle to implantation.

How is it done?

The thrombophilia test is performed with a simple blood sample.

What is the test for?

The test assesses genetic predisposition to thrombophilia and defines appropriate preventive and therapeutic strategies.

Why is it important to do the test?

The presence of a thrombophilic condition can represent a potential obstacle to an embryo implantation in the womb.

The formation of clots endangers pregnancy. Blood tends to coagulate more to reduce the possibility of bleeding during childbirth. This increases the risk of clots forming, especially if there is already a predisposition to thrombophilia.

Thrombophilia is the cause of 40% of recurrent abortions. Other related risks include fetal death, premature or late placental detachment, and fetal underdevelopment.

Microdeletion means the loss of a piece of chromosome and the genes contained therein. The Y chromosome is the chromosome that is passed from the father to the male child, and it contains some genes responsible for spermatogenesis (formation of sperm).

Y chromosome microdeletions are one of the most common causes of male infertility.

  • They can be inherited
  • They can originate for the first time in an individual

How is it performed?

The test for Y chromosome microdeletion is performed with a simple blood test.

What is the purpose of the test?

The Y chromosome microdeletion test evaluates if there is a loss of small portions of the Y chromosome and prevents transmission of the anomaly to one’s children. There is always a risk of transmitting the microdeletion to male children.

Why is it important to do the test?

Currently, with the development of molecular biology techniques, it is possible to demonstrate the presence of Y chromosome microdeletions so small that they cannot be detected by a classic karyotype examination.

It is very important, especially for couples who are undergoing assisted reproduction, to know with more precision the possibility of transmitting the same infertility problem to a child.

Knowledge of the type of Y deletion can help the doctor determine the best type of assisted fertilization treatment to subject the infertile couple to.

Embryosafe® is a test created by Eurofins Genoma for Preimplantation Genetic Diagnosis (PGD): a set of techniques that allow the detection of genetic diseases in embryos, before they are transferred to the uterus.

PGD can be considered a very early form of prenatal diagnosis.

What is the purpose?

Before starting a clinical pregnancy, all genetic diseases that parents could transmit to children are diagnosed. At this point, only healthy embryos after the pathology analysis are selected and transferred to the uterus.

As a result, thanks to Embryosafe®, couples avoid having to choose to end the pregnancy if a sick fetus is identified and will have a healthy fetus, free from the analyzed diseases.

Embryosafe® is therefore an addition to assisted reproduction technology and requires in vitro fertilization to allow for manipulation of the embryo before its implantation in the uterus.

Why is Embryosafe® more effective than prenatal diagnosis?

Although prenatal diagnosis techniques today are more than adequate to prevent the birth of children with genetic diseases, couples who use them must face a therapeutic interruption of pregnancy if a fetus affected by the specific disease is identified.

Many couples also face repeated pregnancy interruptions before generating a healthy child.

Embryosafe® was introduced as an alternative to prenatal diagnosis, to increase the options available to couples who know they have a genetically transmitted disease.

Embryosafe® minimizes the presence of genetic pathologies.

From the 90s to today: PGD as an established solution.

After its first application in 1990, PGD has added to the approaches typically used for the prevention of genetic diseases and has become a consolidated clinical option in reproductive medicine.

PGD has reduced the number of spontaneous abortions by preventing the conception of children with pathologies.

Since then, the number of centers that perform Preimplantation Genetic Diagnosis has increased constantly, along with the number of diseases that can be identified.

Eurofins Genoma performed the first case of PGD in 1998, in a couple at risk of fibrosis.

Our lab’s PGD section has intense scientific collaboration with prestigious international institutes and ongoing interaction with the International Scientific Community.

We use the most modern equipment and the most advanced technologies available today, employing sophisticated and innovative methods.

We are the most qualified Italian center in the field of pre-implantation genetic diagnosis and a reference point for several assisted fertilization centers, both national and international.

We also study cases of rare genetic diseases where a genetic diagnosis is usually not available, developing an ad hoc PGD strategy for the specific mutations present in the couple.

How is Embryosafe® performed?

The execution of Embryosafe® involves the following steps:

Induction of ovulation

Retrieval of mature oocytes

In vitro fertilization

through intracytoplasmic injection (ICSI)

Embryo biopsy

Genetic analysis of the blastomere

Implantation of embryos in the uterus

Eurofins Genoma:
the most advanced technology at your disposal

Do you want to know more?

Eurofins Genoma: genetic testing from conception to pregnancy

Endometriome® is a test that provides information on the uterine environment and the set of microorganisms (bacteria, viruses, and fungi) that populate it.

The endometrium is the inner layer of the uterus and its main function is to allow implantation of the fertilized egg.

Studying the uterine environment promotes reproductive success.

The delicate balance between the bacterial species that populate the endometrium is an important element during embryo implantation.

In the presence of pathogenic bacteria, implantation of pregnancy can be unfavorable.

Pathogenic bacteria

The presence of pathogenic bacteria can cause infections, failure of embryonic implantation or abortion.

Bacterial dysbiosis

The imbalance of the bacterial flora can cause failure of embryonic implantation.

Unfavorable uterine environment

Alterations of the uterine environment reduce the chances of reproductive success and embryo implantation.

Chronic endometritis (CE)

Chronic endometritis is the most important example of a disease caused by an alteration of the uterine environment, and this inflammation of the mucous membranes is often asymptomatic and not detectable during routine checks.

It is estimated that up to 60% of women with recurrent abortions and 66% of women with repeated implantation failures are carriers of chronic endometritis.

How is it performed?

Endometriome® is a test that is performed with a simple and painless tissue or endometrial fluid sample.

Endometriome® is the study of the endometrial microbiome that can increase reproductive success rates.

It provides a precise and complete profile of the uterine environment and has a reliability level of > 99%.

Precise. Complete. Advanced.

It is performed between the 15th and the 22nd day of the menstrual cycle.

Improve management of couples with previous reproductive failures.

Allows to determine when the uterine environment is optimal for embryo implantation.

Studies the composition of endometrial bacterial flora.

Identifies chronic endometritis caused by the presence of pathogenic bacteria.

After the test results, the specialist can recommend transferring the embryo or waiting and performing a treatment to restore the optimal uterine environment.

All benefits

Allows to assess the percentage of Descs bacteria (essential for defense against intimate infections) in the uterine environment.

If the report suggests the presence of pathogenic bacteria, a corrective treatment can be used.

Allows the specialist to choose the moment to transfer the embryo with awareness.

Determines which pathogens are responsible for any chronic endometritis to propose an adequate antibiotic treatment.

Who we recommend Endomentriome® to:

Patients with repeated embryo implantation failures (RIF).

Patients who want to have a child and want to evaluate the presence of altered endometrial balance or undiagnosed CE that could negatively interfere with embryo implantation.

Patients with recurrent abortions (RPL).

For effective prevention and early diagnosis, choose safety. Choose Endometriome®.

Eurofins Genoma: genetic testing from conception to pregnancy

EXPERIENCE.
COMPETENCE.
QUALITY.

For over 20 years, Eurofins Genoma has been an excellence center in the field of genetics and molecular biology, recognized internationally for its large technological and human resources.

Our laboratories, housed in modern and high-tech facilities, are characterized by advanced instrumental and technological equipment, as well as high-quality standards.

Since 1997 we have mainly operated as a diagnostic partner for genetic, cytogenetic and molecular analysis: we are a research-active company and boast significant knowledge and experience in the field.

We provide a wide range of services among the most complete in the national and international territory, offering patients and their doctors innovative diagnostic solutions for a wide range of genetic and molecular analysis.

Tests performed in Italy

3 laboratories equipped with the most innovative technologies

Quick
reporting

Tests distributed
globally

Over 20 years of experience
in genetics and molecular biology

Over 200,000 genetic tests per year

Personalized genetic counseling

Research department with numerous publications in prestigious international journals

Contact us at
+39 06.164161500 (Contact Center) or fill out this form.

A specialist will contact you, free of charge and without obligation, to provide you with all the information you need.

customer service: +39 06.164161500

Rome

Laboratories and Medical Studies

Legal Headquarters and Research and Development Laboratory for Molecular Genetics
Via Castel Giubileo, 11 / 00138

Medical Genetics Laboratory and Molecular Diagnostics

Sampling and Consultations
Via Castel Giubileo, 62 / 00138

Milan

Molecular Genetics Laboratory and Medical Studies

Via Enrico Cialdini, 16 (Affori Centre) 20161

Florence

Laboratory and Medical Studies

Via Cavour, 168r 50121