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?
Firstly an ultrasound should be carried out to confirm the pregnancy and dates (how many weeks pregnant you are). This can be arranged through our ultrasound partners, The Ultrasound Suite. The cost of the scan is not included in the below fees.
Then a blood test is taken. From the blood, fetal DNA is analysed which will provide an estimate of risk of chromosomal abnormalities and genetic diseases in the fetus. There is no risk of miscarriage associated with this screening test.
Turnaround time for test results is typically 7-10 days, however some of the extended screening panels may take up to 6 weeks.
When can I have NIPT carried out?
This depends on your choice of test. NIPT is carried out from 9 weeks for Panorama testing and from 10 weeks for Prenatal Safe testing.
What conditions are tested for?
Please click here to read more information about conditions tests.
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.
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.
Test | PrenatalSAFE 3 | PrenatalSAFE 5 | PrenatalSAFE 5 + 22q11.2 | PrenatalSAFE PLUS | Panorama | Panorama + 22q11.2 | Panorama Extended |
|---|---|---|---|---|---|---|---|
Cost | €420 | €480 | €600 | €625 | €440 | €520 | €620 |
Gender | YES | YES | YES | YES | YES | YES | YES |
Trisomies: Trisomy 21 (Down's Syndrome), Trisomy 18, Trisomy 13 | YES | YES | YES | YES | YES | YES | YES |
Sex Chromosome Aneuploides: Monosomy X (Turner Syndrome) XXY Syndrome (Klinefelter Syndrome), Triple X Syndrome , XYY Syndrome (Jacob’s Syndrome) | NO | YES | YES | YES | YES | YES | YES |
Triploidy | NO | NO | NO | NO | YES | YES | YES |
22q11.2 Deletion Syndrome (DiGeorge Syndrome) | NO | NO | YES | YES | NO | YES | YES |
1p36 Deletion Syndrome | NO | NO | NO | YES | NO | NO | YES |
Angelman Syndrome | NO | NO | NO | YES | NO | NO | YES |
Cri-du-chat Syndrome | NO | NO | NO | YES | NO | NO | YES |
Prader Willi Syndrome | NO | NO | NO | YES | NO | NO | YES |
Wolf-Hirschhorn Syndrome | 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. This can be arranged through our ultrasound partners, The Ultrasound Suite. The cost of the scan is not included in the below fee.
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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?
€300. The cost of the ultrasound scan is not included and can be arranged separately through our ultrasound partners in The Ultrasound Suite.
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