Laboratory testing represents a critical component of the assessment, diagnosis, and management of fertility disorders and pregnancy. We work with fertility clinics and GPs to provide access to accurate and timely information, supporting informed decision-making throughout the fertility pathway.
Follicle stimulating hormone (FSH) and luteinising hormone (LH) provide insight into the cycle of egg production and release
A progesterone test on day 21 of your menstrual cycle will tell you if ovulation (egg release) has taken place. An egg can be fertilised between 12 and 24 hours after ovulation
High levels of the stress hormone prolactin can prevent the release of FSH and LH
Anti mullerian hormone (AMH) is the most reliable indicator 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 can lead to irregular menstrual cycles, anovulation, and poor quality of oocytes. To determine blood sugar levels, we offer a glucose and HbA1c test.
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) binds to your sex hormones and acts as a transport vehicle. Lower SHBG levels increase the likelihood of obesity and PCOS, thereby affecting fertility.
Small amounts of testosterone are produced by the ovaries and adrenal glands. Slight increases in testosterone production can disrupt the balance of hormones and cause infertility.
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 autoimmune conditions and viral or bacterial infections.
Autoimmune diseases cause your immune system to mistake your own healthy cells and tissues for foreign invaders. These conditions mainly affect women and tend to peak during reproductive years. The most common autoimmune responses affect the thyroid gland, phospholipids (a type of fat), gliadin/gluten, and various cells.
| Autoimmune conditions | Viral screens & antivirals |
| 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 |
Three Rock Road, Sandyford Industrial Estate, Dublin,D18 A4C0, Ireland
Karyotype Testing of Prospective Parents
Constitutional Karyotyping: analyses the number, size, shape, and structure of chromosomes present in blood cells from prospective parents. It identifies the following structural anomalies at the microscopic level:
A constitutional karyotyping result in peripheral blood can rule out these genetic alterations as a possible underlying cause, especially in cases of azoospermia, severe oligozoospermia, early ovarian failure or repeated gestational losses.
Male Genetic Reproductive Profiling
You can order an individual test or all 3 test options below:
1. Constitutional Karyotype: genome wide structural anomalies detectable at the microscopic level
2. CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) Profiling.
We offer a 62 or 139 mutation test option along with a Whole CFTR gene test.
CFTR mutation causes congenital bilateral absence of the vas deferens (CBAVD), [1-2% of male infertility].
CBAVD is found in 6% of obstructive azoospermia cases
95% of men with CF have CBAVD
Some mutations in CFTR can lead to monosymptomatic CBAVD therefore screening is important in male infertility investigations
3. Y Chromosome Microdeletions: The second most common genetic cause of male infertility after Klinefelter (XXY)
AZF regions of q arm of Y chromosome contain genes critical for spermatogenesis
Multipex PCR using sequence tagged site specific primers to detect deletions in AZFa, AZFb and AZFc
Your healthcare professional is the best person to advise you on the type of test best suited to you. The GeneScreen® test comprises four packages distinguished by the number of genes and genetic conditions analysed; Focus, Protect, Easy-Donor and Complete. All panels cover Irish requirements for carrier screening: CF, haemoglobinopathies, Sickle Cell, Tay-Sachs
List of genes covered by each panel is as follows-
Focus
Protect
Easy-Donor
Complete
Donor Matching is possible at both sequential [manual matching] and mirror level [semi-automated bioinformatics]. A carrier report from a third party lab will be accepted for manual matching.
Single gene addition is possible if gene is required for donor matching and covered by the GeneScreen WES panel.
Expansion profiling is possible at a later date to the original testing.
Following is an example of some of the conditions that the testing will identify. The above gene list provides greater details.
Three Rock Road, Sandyford Industrial Estate, Dublin,D18 A4C0, Ireland
Pre-eclampsia is defined as recent onset hypertension (arterial pressure ≥ 140/90 mmHg), and remains 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:
Placental growth factor (PIGF), together with pregnancy-associated plasma protein-A (PAPP-A), are biochemical markers for pre-eclampsia. Assays are performed during the first trimester of pregnancy to calculate the risk of early-onset (before 34 weeks of gestation) or late-onset pre-eclampsia (before 37 weeks of gestation). This calculation of risk includes data about the patient (BMI, smoker/non-smoker, geographic origin, etc.) their history (number of viable pregnancies, history of pre-eclampsia, hypertension) and about the pregnancy underway (dating, date of ultrasound, and craniocaudal length), in addition to blood pressure and a uterine artery Doppler.
The predictive assay is for patients between 20 and 37 weeks of gestation who are at risk of pre-eclampsia and exhibit at least one warning sign. A low sFlt-1/PlGF ratio (<38) facilitates the prediction of the likelihood of pre-eclampsia (and complications) at one week (NPV 99.3%).
Affinity Map 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 fertilisation, the donor(s).
In typical pregnancies, immune cells located within the mother’s womb recognise the proteins on the surface of the embryo and accept it. However, the immune system does not always function perfectly. This test is useful for those who have had multiple miscarriages or failed implantations, those at risk of or with a history of preeclampsia, and sperm/egg donors.
What is involved?
A simple blood test.
Test method: Genetic test.
Three Rock Road, Sandyford Industrial Estate, Dublin,D18 A4C0, Ireland
Preimplantation genetic testing (PGT) helps to assess the health of embryos before implantation into the womb. There are two types of PGT:
In use since 1998, this test checks the embryo on day 5/6 of pregnancy. It includes three tests:
What is involved?
Trophectoderm biopsy.
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).
Non-invasive prenatal testing (NIPT) involves analysing the for cell-free foetal DNA (cffDNA) in a blood sample taken from the mother at the tenth week of gestation. This test is highly accurate with a sensitivity and specificity of >99% and poses no risk to the developing foetus. NIPT facilitates the identification of Trisomy 21 (Down Syndrome), 18 (Edward Syndrome) and 13 (Patau Syndrome), as well as aneuploidies of the sex chromosomes: Turner Syndrome (XO), Klinefelter Syndrome (XXY), Trisomy X (XXX), Jacobs Syndrome (XYY). In addition, NIPT can determine the sex of a foetus.
If the results of your NIPT are worrisome, an amniocentesis is conducted to confirm or rule out a diagnosis.
Genesafe is a complementary analysis to NIPT, and screens for conditions that are not covered by NIPT. There are four test options available:
Genesafe inherited – Screens for cystic fibrosis, deafness (autosomal recessive type 1A), beta thalassemia, and sickle cell anaemia in four genes
Genesafe de novo - Screens for 44 severe genetic disorders that not inherited from the parents in 25 genes, including:
GeneSafe Complete - Screens for a combination of inherited and de novo conditions.
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).
The genetic profile of an individual is comprised of half of the genetic profile from the mother and other half from the father. PaternitySafe facilitates verification of paternity in the earliest stages of pregnancy.
What is Involved?
PaternitySafe analyses a blood sample from the mother and a buccal swab from the father and can be performed from week 10 of gestation onwards.
Three Rock Road, Sandyford Industrial Estate, Dublin,D18 A4C0, Ireland
