Fertility Testing Services

 

 

 

 

Eurofins is a global network of laboratories offering an extensive range of specialist tests in the Fertility area. Our UK, (Eurofins Clinical Diagnostics UK ), Italian (Eurofins Genoma)  and Irish (Eurofins Clinical Genetics) Laboratories are involved in this event and offer a range of Fertility Tests We are very happy to be exhibiting and speaking at the 2025 Future Fertility Show. Visit us at Stand No. 27.

 

 

Dr. Naja, our Geneticist from Eurofins Clinical Diagnostics UK has a PhD in Human Genetics and over 20 years of experience in Clinical Diagnosis, Genetics and Reproductive Health. He is the Laboratory Director for Eurofins Clinical Genetics UK & IE, Chief Scientific Officer for Eurofins Clinical Diagnostics UK and Associate Professor (Honorary) of Reproductive Health.

 

Dr. Roy Naja will be speaking at the below times on Saturday 1st:

Workshop Saturday 2.15pm	Advances in Genetic Tests that Impact Reproductive Success
Panel Discussion Saturday 11.15am -12.00	Decoding Fertility - Genetic Testing, Reproductive Risks, and the Role of Epigenetics Dr Larisa Corda Dr. Nicole Mardešićová Dr Roy Naja

Eurofins Genoma (Italy) has over 20 years of experience in the Reproductive field, with laboratories based in Rome, Milan and Florence.

Dr. Spinella is Ireland’s Medical Science Liaison for Eurofins Genoma, with over 10 years of experience in genetic testing in Human Reproduction. She works with a large team of geneticists, doctors and genetic counsellors.

Visit our stand (No. 27) this week and meet our 2 scientists from our Dublin, Eurofins Clinical Genetics Laboratory. Both are Specialist Clinical Scientists with extensive experience in research and diagnostics.

Between our 3 Laboratories, we can offer tests for the 5 steps in your Fertility journey; Figure1

Step 1: Investigating Infertility

Step 2: Identifying Genetic Risks

Step 3: Assessing your Internal Environment & Timing

Step 4: Assessing the Health of the Embryo before Implantation

Step 5: Assessing the Health of the Fetus

 

 

Step 1: Investigating Infertility

A Visit to your GP

The initial stages of the journey start with your own GP. He/She will order a series of tests to monitor your Menstrual Cycle along with other hormones and transporters that impact the cycle;

• Follicle Stimulating Hormone (FSH) and Luteinizing hormone (LH), these provide insight into the cycle of egg production and release
• A Progesterone test on day 21 will tell you if ovulation (egg release) has taken place as the egg can be fertilized from 12 to 24 hours after it's released
• Prolactin is a stress hormone and high levels can prevent the release of FSH and LH
• Anti Mullerian Hormone (AMH) is the most reliable single predictor of whether a woman is still fertile and how many eggs she has left in her ovaries.
• An undiagnosed thyroid condition can make it difficult to conceive. It can also cause problems during pregnancy itself. Once detected, measures can be taken to provide hormonal balance.
• Poorly controlled blood sugar associated with diabetes. An HbA1c test studies the effects of high blood sugar over a 3-month period.
• The hormone, Estradiol is produced by follicles in the ovaries. An elevated level on the third day of your cycle could indicate a compromised ovarian reserve despite a normal FSH level.
• Sex Hormone Binding Globulin (SHBG), as the name suggest binds to your sex hormones and carries them from A to B. Lower SHBG levels can increase the likelihood of obesity and PCOS, thereby affecting Fertility
• Small amounts of testosterone are produced by the ovaries and adrenal glands. Even slight increases in testosterone production can disrupt the balance of hormones and cause infertility.

 

Starting to work with a Fertility Clinic

When you enter the care of a Fertility Clinic, they will offer you a range of tests to ensure they have all the information they require before commencing a reproductive cycle. These tests include screening for Auto-Immune conditions and Viral or Bacterial Infections.

An autoimmune disease is where your immune system mistakes your body’s own healthy cells and tissues for foreign invaders and assaults them. These conditions mainly affect women and they tend to peak during reproductive years. The most common auto-immune responses are against the thyroid gland, phospholipids (a type of fat), gliadin/gluten and your cells e.g. DNA.

Auto-Immune Conditions	Viral Screens & Anti-Virals
Beta 2 Glycoprotein	Protection against Rubella, Measles
Lupus Anticoagulant	Hepatitis B virus (HBV) Antibodies
Cardiolipin Antibodies	Hepatitis C virus (HCV) Antibodies
Thyroid Peroxidase Antibodies	Hepatitis B Surface Antigen
	Hepatitis C Surface Antigen
	HIV
	Bacterial Infections
	Chlamydia, Gonorrhoeae, Syphilis

Eurofins Genoma offer 2 tests in this area: Fertiscan & Nutrifert.

Fertiscan is an innovative test to identify genetic causes of infertility and recurrent miscarriages in females and infertility in males. The male test panel checks 50 genes to uncover sperm issues such as size, shape, mobility or sperm numbers as the possible causes of infertility. The female test panel checks 70 genes however we can offer targeted test versions to females, outlined in Figure 1 below:

Figure 1: Image from Front. Cell Dev. Biol., 10 May 2021 Sec. Molecular and Cellular Reproduction Volume 9 2021 | https://doi.org/10.3389/fcel l.2021.672890

What is involved? This test involves a simple blood collection. It has >99% specificity and sensitivity.

Test Method: Next Generation Sequencing (NGS). 

‘It runs in the Family’ is a common saying in Ireland, when we recognise something about ourselves that comes from our parents, grandparents or wider family circle. These inherited traits when combined with lifestyle choices, diet and environmental factors can create metabolic, hormonal and inflammatory imbalances, impacting fertility. Nutrifert is suitable for women who want to plan a pregnancy or who are having difficulty conceiving without a specific diagnosis. Figure 2

Figure 2: Genetic Predisposition

The Nutrifert test™ investigates 11 genes and identifies traits that can make a person more susceptible to developing the likes of Obesity, Diabetes, Ovary Syndrome and Endometriosis which can all impact Fertility.

Research has shown that by changing your nutrition to a personalised food plan on the advice of a professional Nutritionist,  you can improve ovulation, increase the chances of successful embryo implantation, decrease inflammatory states and decrease the possibility of miscarriages. The test also includes an assessment of how well you digest, absorb and metabolise certain dietary nutrients.

What is Involved? A simple blood test or a buccal swab.                

Test Method: Next Generation Sequencing. Tested: 11 genes including 23 SNPs (Single Nucleotide polymorphisms).

Step 2: Identifying Genetic Risk

Eurofins Genoma offer 2 tests in this area: Karyotyping and GeneScreen One or both healthy partners in a couple may be unaware they are carriers of genetic mutations responsible for serious diseases that can be transmitted to their children. Eurofins Genoma offer individual tests e.g. a Karyotype test for Klinefelter syndrome or more extensive tests packages like GeneScreen.

Your Healthcare Professional is the best person to advise you on the type of test suited to you, based on your family history.

GeneScreen: There are 4 options, Focus, Protect, Easy-Donor and Complete, defined by the number of genes  and genetic conditions that are checked. (Figure 3)

Figure 3: GeneScreen™ Table

What is Involved? A simple blood test or a buccal Swab.               

Test Method: Next Generation Sequencing (NGS).

 

Step 3: Assessing Internal Environment

The environment within the womb and vagina have a key role to play in successful reproduction. Implantation failure is the main cause of infertility and IVF cycle failure.

With recent media focus on Health and Wellness, the Gut Microbiome and their contribution to health is widely known but many females may not be aware of the importance of womb and vaginal bacteria and the steps that can be taken to alter this microbiome (e.g. probiotic/antibiotic), if necessary. Figure 4

Figure 4: Eurofins Genoma offer 4 tests in this area.

 

1. Endometriome

This is a screening test that analyses the lining of the womb to assess the composition of  the bacteria that currently live there. A healthy endometrial microbiome can improve the reproductive outcome of people trying to get pregnant. A high % of lactobacilli bacteria provides optimal conditions for embryo implantation. This test screens for bacteria that can cause Endometritis (infection in the lining of the womb) e.g. Escherichia coli, Klebsiella spp, Chlamydia spp.

What is Involved? A sample of endometrial tissue or endometrial fluid between day 15 and 25 of the natural menstrual cycle or during the uterine secretory phase in a HRT cycle.

Test Method: Next Generation Sequencing (NGS).

2. Eubiome

This is a screening test of the microbiome that live in the vagina. These bacteria have been studied for over 40 years. The lactobacilli bacteria produce Hydrogen Peroxide, (H₂O₂ ) to suppress the growth of unfavourable bacteria such as L.Crispatus, L. Gasseri, L. Jensenii and L. Iners. A healthy microbiome protects against these microbes by producing antimicrobical substances and help to maintain an intact, vaginal channel lining, that secretes a protective pH mucus. Bacterial Vaginosis and Vaginal Candidiasis are common vaginal conditions. Additional screenings are available for other STI’s.

Eubiome identifies 4 main Lactobacilli and the report provides a bacterial balance score of lactobacilli to all other bacteria in an easy-to-read report, checking for 14 of the main pathogens that cause vaginitis and vaginosis

What is Involved? a cervix-vaginal swab and a endocervical swab for HPV.

Test Method: Gene expression profiling.

 

3. Affinity Map

Affinitymap tests the ability of the mother’s immune system to tolerate the embryo. The embryo inherits half of its genetic material from the father and half from the mother, so maternal-fetal immunological compatibility can be predicted by studying the couple and, in the case of heterologous fertilization, the donor(s).

Immune cells located within the mother’s womb should recognize the proteins on the surface of the embryo and accept it. However, the immune system does not always do what we want it to do! This test is useful to those who have had multiple miscarriages, failed implantations, risk of / or prior preeclampsia and sperm/egg donors.

What is Involved: A simple blood test.

Test Method: Genetic Test.

4. E-Ready

This is a test that checks how receptive your womb is to receiving and implanting an embryo. The womb lining goes through significant changes to prepare itself for implantation. Our technology can track these changes, as cells morph and the immune system responds, using genetic testing, to identify the best time for implantation.

We analyse a small sample of endometrial tissue or endometrial fluid to identify the correct implantation window date which gives your clinician one more tool to avoid implantation failure.

 

What is Involved: a sample of endometrial tissue or endometrial fluid

Test Method:

Step 4: Embryo Health Assessment

Eurofins Genoma offer 2 tests in this area: EmbryoSafe, niEmbryosafe

You may have undertaken or are about to undertake a cycle of  assisted reproduction to achieve pregnancy.  Following this long process, you hopefully will produce  a number of embryos. Eurofins Genoma provide tests that help to support embryo implantation and an ongoing pregnancy.

These tests are called PGT tests (Preimplantation Genetic Testing) and they help to select and check the health of the embyro’s before implantation into the womb. There are 2 types:

1. EmbyroSafe

Has been in use since 1998. This test checks the embyro on day 5/6. It includes 3 tests:

• • PGT-A identifies the embryo’s that are most likely to implant, less likely to miscarry and are healthy
  • PGT-ST identifies unbalanced chromosomal arrangements
  • PGT-M identifies monogenic diseases such as Cystic Fibrosis, Deafness at birth etc

What is Involved? Trophectoderm Biopsy.

 

2. Non-invasive Embryosafe

niPGT-A is an innovative procedure that allows the detection of chromosomal imbalance without manipulating the embryo. This test is based on the analysis of the embryo’s cell free DNA (cfDNA) that can be easily collected from the spent culture media where the embryo has rested for a few days. The use of the cfDNA avoids the need to biopsy the embryo.

What is Involved? Spent Culture Medium.

Test Method: Next Generation Sequencing(NGS).

Brochure download: click here – get brochure

 

 

Eurofins Genoma also offer a Fertility AI tool that connects data from all treatment stages of an IVF cycle and compares a patient's data with similar patient profiles and similar embryo characteristics to help clinicians develop personalized treatments and medication protocols and support embryologists during the embryo selection.

Step 5: Fetal Health Assessment

You are nearing the end of a long journey and there is a baby growing inside you. We offer various levels of testing at this stage of your journey and will take you through these below.

Eurofins Clinical Genetics laboratory in Dublin offer Prenatal Safe Testing (NIPT) 3 & 5 ( rows 1 and 2 from the PrenatalSafe diagram below) and Eurofins Genoma provide the remainder of the tests.

NIPT Testing

At the 10^th week of gestation, we take a sample of blood from you, the mother, and can test the cell-free fetal DNA (cffDNA) of your baby circulating in the blood. This test is highly accurate with a sensitivity and specificity of >99% and no risk to the developing baby. This process is called Non-Invasive Prenatal Testing (NIPT)

In our Dublin Laboratory we test for Trisomy 21 (Down Syndrome), 18 (Edward Syndrome) and 13 (Patau Syndrome), and aneuploidies of the sex chromosomes: Turner Syndrome (XO), Klinefelter Syndrome (XXY), Trisomy X (XXX), Jacobs Syndrome (XYY) and can identify if you are carrying a boy or girl (if you want to know).

 

What happens if a NIPT test shows high risk?

If the results of your NIPT test is worrisome, an amniocentesis is conducted to confirm or rule out a diagnosis. Amniotic fluid and cells from the womb are extracted and tested to give you information on the baby’s health.

 

RhSafe Test

Rhesus disease is a condition where antibodies in mother’s blood destroy her baby's blood cells. It's also known as haemolytic disease of the fetus and newborn (HDFN). It does not harm the mother, but it can cause the baby to become anaemic and develop newborn jaundice. It only happens when the mother has rhesus negative blood (RhD negative) and the baby in her womb has rhesus positive blood (RhD positive).

Our RhSafe test, detects the presence (fetus RhD positive) or deletion of the RHD gene (fetus RhD negative) in RhD negative mothers.

It is performed from the 10^th week of gestation.

Eurofins Genoma laboratory offers additional levels of testing, including Microdeletions, GeneSafe Inherited, GeneSafe de novo , GeneSafe Paternity and Paternity Safe. Figure 5 below will help you see all the level of testing we offer at this stage.

Figure 5: *Prenatalsafe® 3 and 5 by Eurofins Clinical Genetics. Further testing such as 5 DiGeorge is referred by Eurofins Biomnis IE (Sandyford) to our sister laboratory in Eurofins Genoma. All referral tests will be referred by Eurofins Biomnis Sandyford to Eurofins Genoma directly.

 

Microdeletions

Eurofins Genoma test for microdeletions that cause the following syndromes; DiGeorge, Prader-Willi, Angelman, Jacobsen’s amongst others.  

What is Involved? A blood sample from the mother on or after 10 weeks into the pregnancy.

Test Method: Next Generation Sequencing with a sensitivity and specificity of >99%.

 

GeneSafe

Genesafe is a complementary screen to NIPT, screening for conditions that not screened for by NIPT. There are 4 test options available to you;

Genesafe inherited – screens the fetal DNA for  common inherited conditions; Cystic Fibrosis, Deafness autosomal recessive type 1A, Thalassemia-Beta, Sickle Cell Anaemia in 4 genes

Genesafe de novo screens the fetal DNA for 44 severe genetic disorders that are new, i.e. not inherited from the parents, in 25 genes. These mutations can cause

• skeletal dysplasia
• congenital heart defects
• multiple congenital malformation syndromes
• neurodevelopmental disorders (e.g. autism, epilepsy, intellectual disability)
• cases of rare Mendelian disorders ( e.g. Schinzel-Giedion syndrome)
  
  

GeneSafe Complete is a combination of inherited and de novo.

Genesafe Paternal Age

As a man ages, the chance of mutations/errors occurring in sperm substantially increases. Disorders associated with advanced paternal (father) age typically are caused by DNA mutations arising during the development of the sperm cells.

What is Involved? a blood sample collected from the mother on or after 10 weeks into the pregnancy.

Test Method: Next Generation Sequencing (NGS).

 Additional Tests

PaternitySafe

This test determines the father of the baby, in the earliest stages of pregnancy. Until recently, the only way to test for paternity while pregnant was to collect amniotic fluid via a long needle, which is an “invasive” procedure that presents a risk to the baby. During pregnancy, fetal DNA circulates naturally in maternal blood and can be detected from 5 weeks gestational age.

The baby’s genetic profile will be made up of half of the genetic profile from the mother and other half from the father. Therefore, the biological father will own half of the genetic profile present in the baby.

What is Involved? a blood sample from the mother with on week 10 of gestation  and a buccal swab from the father.

Test Method: Next Generation Sequencing (NGS). 

 

Eurofins wish you the best of Good Luck and Health over the next episode of your life.