Fertility Clinician Resources
Three of the Eurofins Laboratories have come together to offer their combined scientific knowledge to couples in Ireland seeking advice and help with Fertility.
- Eurofins Genoma, Italy
- Eurofins Clinical Diagnostics, UK
- Eurofins Clinical Genetics, Dublin
Accreditation
Eurofins Genoma Laboratory is certified to UNI EN ISO 9001:2015 and UNI CEI EN ISO/IEC 17025:2018 for Forensic Genetics testing and UNI EN ISO 15189:2013 for NIPT (Non-Invasive Prenatal Testing) analyses.
Eurofins Clinical Diagnostics is a UKAS 15189 accredited medical testing laboratory.
Eurofins Clinical Genetics, Dublin was established in June 2024 and will be seeking accreditation in 2025.
The Team
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Dr Roy Naja is Laboratory Director for Eurofins Clinical Genetics UK & IE, with a PhD in Human Genetics and over 20 years of experience in clinical diagnostics, genomics, and reproductive health. Dr Naja works closely with the Irish team and is a regular speaker at our Fertility and Genetic events. |
Dr. Francesca Spinella PhD, is a molecular biologist, with over 10 years of experience in genetic testing in human reproduction. Eurofins Genoma employs a large team of geneticists, doctors and genetic counsellors with Dr Spinella as Ireland’s Medical Scientific Liaison. |
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John O'Leary MD, DSc, PhD(Oxon), MSc, is our external scientific advisor and works closely with our 2 scientists in our Dublin |
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Dr. Helen Keegan, is a Specialist Clinical Scientist with 20 years’ experience in the field of molecular diagnostics having enjoyed various positions within Department of Histopathology at TCD, the Coombe and the National Cervical Screening Laboratory. |
Dr. Prerna Tewari, is a Specialist Clinical Scientist with significant expertise in molecular biology, cancer genomics, molecular pathology and molecular diagnostics and over 20 years of experience in conducting translational research. |
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:
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.
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).
GeneScreen: There are 4 options, Focus, Protect, Easy-Donor and Complete, defined by the number of genes and genetic conditions that are checked.
What is Involved? A simple blood test or a buccal Swab.
Test Method: Next Generation Sequencing (NGS).
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 antimicrobial 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 the 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 clinicians one more tool to avoid implantation failure.
What is Involved: a sample of endometrial tissue or endometrial fluid
Test Method:
Pre-eclampsia
Pre-eclampsia (PE) is still a leading cause of maternal and perinatal mortality and morbidity in Ireland. PE is defined as recent onset hypertension (arterial pressure ≥ 140/90 mmHg).
Assays of pre-eclampsia biomarkers can be used for:
Screening Assay (1st trimester of pregnancy):
PIGF (Placental Growth Factor) is, together with PAPP-A, a biochemical marker for pre-eclampsia. Assays are performed during the first trimester of pregnancy. It is possible to calculate the risk of early-onset (before 34 weeks of gestation) or late-onset pre-eclampsia (before 37 SA). This calculation of risk includes data about the patient (BMI, smoker/non-smoker, geographic origin, etc.) the history (number of viable pregnancies, history of pre-eclampsia, hypertension) and pregnancy underway (dating: date of ultrasound and craniocaudal length) in addition to blood pressure and Doppler of uterine arteries.
Predictive Assay (>20 weeks of amenorrhea):
The predictive test is for patients between 20 and 37 weeks of gestation, at risk of pre-eclampsia with at least one warning sign. A low sFlt-1/PlGF ratio (<38) enables predicting the absence of pre-eclampsia (and complications) at 1 week (NPV 99.3%).
Embryo Health Assessment
Eurofins Genoma offer 2 tests in this area: EmbryoSafe, niEmbryosafe
A patient may have undertaken or is about to undertake a cycle of assisted reproduction to achieve pregnancy. Following this long process, they will hopefully 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 embryo'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:
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- 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).
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.
NIPT Testing (PrenatalSafe 3 & 5)
From as early as the 10th week of gestation, a simple sample of maternal blood can be taken and the cell-free fetal DNA (cffDNA) of the baby is extracted. This test is highly accurate with a sensitivity and specificity of >99% and no risk to the developing baby.
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 fetal sex as well if desired.
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 10th week of gestation.
Eurofins Genoma laboratory offers additional levels of testing, including Microdeletions, GeneSafe Inherited, GeneSafe de novo , GeneSafe Paternity and Paternity Safe.
*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).