Most infants are born healthy and have normal development. However a small number will have genetic conditions which may cause disability and have serious consequences. Using ultrasound and maternal blood testing many of these conditions may be detected early in the pregnancy, by the use of non-invasive screening tests.
In Rose Clinic Bray, we offer women Non-Invasive Prenatal Testing and First Trimester Screening. For further information, read below.
Non Invasive Prenatal Testing
Non-Invasive Pre-Natal Testing (NIPT) can help identify if your baby is likely to have certain genetic conditions. Most infants are born healthy and have normal development. However a small number will have genetic conditions which may cause disability and have serious consequences.
During pregnancy, some of the baby’s genetic information (fetal DNA) leaks into the mother’s blood. NIPT can detect and analyse fetal DNA circulating in the maternal blood.
What is involved for NIPT?
NIPT involves a blood test carried out here at Rose Clinic Bray. From this blood sample, fetal DNA is analysed to provide an estimate of risk for certain chromosomal abnormalities and genetic conditions in the fetus. There is no risk of miscarriage associated with this screening test.
Typically, in advance of NIPT, an ultrasound scan is recommended within 2 weeks of blood sampling to confirm a viable intrauterine pregnancy, accurate gestational dating and the number of fetuses, and to reduce the risk of inappropriate or uninterpretable results.
You may arrange this scan with a provider of your choice. Depending on the provider, ultrasound costs typically range from approximately €105–€120. A copy of the ultrasound report is required on the day of NIPT blood sampling and can either be emailed to us in advance or brought to your appointment. If you would prefer for us to help arrange an ultrasound scan for you, please contact the clinic.
When can I have NIPT carried out?
This depends on your choice of test.
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Panorama tests from 9 weeks
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Illumina from 10 weeks
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Pre-natal Safe from 10 weeks
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Concepto (Gender only*) from 7 weeks
Note, certain maternal conditions such as high BMI can increase the risk of inconclusive test results and need for repeat testing. In such circumstances, it is recommended to wait until closer to 12 weeks before carrying out testing.
What conditions are tested for?
Please click here to read more information about conditions tested.
Is the test 100% accurate?
NIPT is the most accurate screening test currently available. However, the accuracy of the test is not 100% and depends on the maternal age and the condition tested for. The likelihood of a false positive, indicating risk when no issue exists, can be slightly higher for rarer conditions
Which screening test should I choose?
There are several different types of NIPT test. Depending on your choice, different genetic conditions will be tested for. Please see the table below outlining the differences.
Please note: For twin, donor egg, or surrogate pregnancies, please contact us directly so we can guide you on the tests available.
The NIPT options listed below meet current Irish accreditation and regulatory requirements. We offer only accredited tests. Other NIPT tests or extended panels not listed are not currently available through our clinic. Testing options may change as approvals and standards evolve.
Test | Illumina | Panorama | Panorama + 22q11.2 | Panorama Extended | Prenatal Safe 3 | Prenatal Safe 5 | Concepto Gender Only |
|---|---|---|---|---|---|---|---|
Cost for NIPT Bloods | €440 | €440 | €520 | €620 | €420 | €480 | €170 |
Timing | From 10 weeks | From 9 weeks | From 9 weeks | From 9 weeks | From 10 weeks | From 10 weeks | From 7 weeks |
Approx Turn Around Time | 3-5 days | 7-14 days | 7-14 days | 7-14 days | 5-14 days | 5-14 days | 7-10 days |
Lab Location | UK | US | US | US | Dublin | Dublin | UK |
Gender | YES | YES | YES | YES | YES | YES | YES |
Trisomies: T21 (Down's Syndrome 1 in 450), T18 (Edwards 1 in 2,000), T13 (Patau's 1 in 2,000) | YES | YES | YES | YES | YES | YES | NO |
Sex Chromosome Aneuploides:
Turner (1 in 2,000 girls),
Klinefelter (1 in 1,000 boys),
Triple X (1 in 1,000 girls),
Jacob’s (1 in 1,000 boys) | YES | YES | YES | YES | NO | YES | NO |
Triploidy (1 in 10,000) | NO | YES | YES | YES | NO | NO | NO |
22q11.2 Deletion Syndrome (DiGeorge Syndrome) (1 in 4,000) | NO | NO | YES | YES | NO | NO | NO |
1p36 Deletion Syndrome (1 in 5,000) | NO | NO | NO | YES | NO | NO | NO |
Angelman Syndrome (1 in 15,000) | NO | NO | NO | YES | NO | NO | NO |
Cri-du-chat Syndrome (1 in 15-50,000) | NO | NO | NO | YES | NO | NO | NO |
Prader Willi Syndrome (1 in 15,000) | NO | NO | NO | YES | NO | NO | NO |
First Trimester Screening
First Trimester Screening (FTS) is an early prenatal screening test that combines an ultrasound with maternal blood tests. It helps assess the risk of certain chromosomal conditions in the baby. While this test does not provide a definitive diagnosis, it can help identify pregnancies that may require further testing.
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What is involved for FTS?
First Trimester Screening consists of two components:
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Ultrasound for Nuchal Translucency (NT): Measures the fluid at the back of the baby's neck. Increased thickness may indicate a higher risk of chromosomal abnormalities. You may arrange this specific scan with a provider of your choice. Depending on the provider, ultrasound costs approximately €150. If you would prefer for us to help arrange the ultrasound scan for you, please contact the clinic.
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Maternal Blood Tests: Two markers in the mother’s blood are measured: Pregnancy-Associated Plasma Protein-A (PAPP-A) and Human Chorionic Gonadotropin (hCG). Abnormal levels may indicate an increased risk of chromosomal conditions.
These tests work together to estimate the likelihood of certain genetic conditions.
When can I have FTS carried out?
First Trimester Screening is performed between weeks 10 and 14 of pregnancy:
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Blood Test: Can be done from 10 weeks onwards.
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Ultrasound: Typically performed around 12 weeks of pregnancy
What conditions are tested for?
FTS helps assess the risk of:
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Down Syndrome (Trisomy 21)
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Trisomy 18 (Edwards Syndrome)
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Trisomy 13 (Patau Syndrome)
Is the test 100% accurate?
FTS is less accurate than NIPT (85-90% detection rate). It has a higher false positive rate – may indicate risk when no issue exists. It also cannot determine baby’s sex.
Cost?
Bloods at 10 weeks (€230) and Ultrasound typically €150 depending on provider.
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