637 4060 ADDRESS: 60 Mount Street Lower, Grand Canal Dock, Dublin 2 info@merrionultrasound.ie
 

NIPT Formerly Harmony Prenatal Test Dublin*

NIPT Formerly Harmony Test Dublin*

From 10 weeks

*We formerly offered the Harmony Test but now it is the NIPT by The Doctors Laboratory

Faster turnaround times, less retest instances and only one tube of blood needed.

It Is Non-Invasive?

Yes, the Doctors Laboratory NIPT – non-invasive prenatal testing. It analyses cell-free DNA circulating in the pregnant mother’s blood. 

 

Cost: €480

What Does It Test For?

It is the newest option in prenatal screening for Down syndrome (Trisomy 21) and other fetal chromosomal conditions (Trisomies 18 and 13), X and Y chromosome conditions.

     

    When Can It Be Used?

    This test can be requested for any singleton pregnancy, including in-vitro fertilisation (IVF) pregnancies with egg donors. It can also be requested for twin pregnancies conceived naturally or by IVF.

     

     

    non invasive prenatal testing (1)

    Non-invasive prenatal testing

    Genetic testing during pregnancy

    Non-invasive prenatal testing (NIPT) screens for the presence of specific chromosome disorders in the developing fetus. The test analyses fragments of DNA in maternal plasma that have been released from both maternal and placental cells.

    NIPT requires a single blood draw, which poses no threat to the fetus, and can be done as early as 10 weeks’ gestation. By analysing the proportions of DNA fragments derived from different chromosomes or chromosome regions, NIPT can screen for the presence or absence of specific chromosome disorders.

    NIPT is more accurate than first trimester maternal serum screening and ultrasound in identifying pregnancies with or without these disorders.

    About the Non-Invasive Prenatal Test

    DNA from the fetus circulates in the mother’s blood. Cell-free DNA (cfDNA) results from the natural breakdown of fetal cells (presumed to be mostly placental) and clears from the maternal system within hours of giving birth.

    During a pregnancy, cfDNA can be tested to give the most accurate screening approach in estimating the risk of a fetus having a common chromosome condition sometimes called a trisomy. This occurs when there are three copies of a particular chromosome instead of the expected two.

    The test looks to detect the following conditions:

    Trisomy 21

    Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome)

    Sex chromosome conditions

    NIPT does not screen for non-chromosome disorders, familial mutations, malformations, fetal growth or fetal viability.

     

    non invasive prenatal test

    Trisomy 21 is the most common trisomy at the time of birth. Also called Down syndrome, it is associated with moderate to severe intellectual disabilities and may also lead to digestive disease, congenital heart defects and other malformations.

    Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome) are associated with a high rate of miscarriage. These babies are born with severe brain abnormalities and often have congenital heart defects as well as other birth defects. Most affected individuals die before or soon after birth, and very few survive beyond the first year of life.

    Sex chromosome conditions occur when there is a missing, extra, or incomplete copy of the X or Y chromosomes. The NIPT test with sex chromosome aneuploidy panel option can assess risk for XXX, XYY, XXY (Klinefelter syndrome), and a missing X chromosome in a girl (Turner syndrome).

    In addition, NIPT can assess fetal sex. This is optional (no additional cost).

     

    Non-invasive prenatal testing accuracy

    NIPT provides fewer false-positive and false-negative results than combined first trimester screening for trisomy 21, 18 and 13.

    It is important to note that NIPT is a screening test and does not provide a definitive genetic diagnosis, as NIPT cannot differentiate potential chromosome differences between the placenta and fetus. A definitive genetic diagnosis of the fetus requires cytogenetic analysis of either amniotic fluid or chorionic villus sampling (CVS).

    Below is an example of potential NIPT results

    Combined first trimester screening 82% 1 in 26
    NIPT >99% <1 in 1,000
    Accuracy (T21, T18, T13) Sensitivity* False-positive rate#

    * Proportion fetuses with trisomy correctly identified by the test as high probability of disorder.

    # Proportion of normal fetuses incorrectly identified by the test as high probability of disorder.

     

    NIPT Performance data in a general screening population
    Trisomy 21 >99.9% (95% CI:97.1%) >99.90% (95% CI:99.63%)
    Trisomy 18 >99.9% (95% CI:91.4%) >99.90% (99.64% CI:97.1%)
    Trisomy 13 >99.9% (95% CI:87.1%) >99.90% (95% CI:99.64%)

    NIPT formerly Harmony Prenatal Test* FAQs

    *Now NIPT by The Doctors Laboratory

    What risks are associated with the Non Invasive Prenatal Test (NIPT)?

    The testing is non-invasive: it involves taking a blood sample from the mother. The pregnancy is not put at risk of miscarriage, or from other adverse outcomes that are associated with invasive testing procedures such as amniocentesis.

    How accurate is the NIPT by The Doctors Laboratory?

    NIPT provides fewer false-positive and false-negative results than combined first trimester screening for trisomy 21, 18 and 13.

    It is important to note that NIPT is a screening test and does not provide a definitive genetic diagnosis, as NIPT cannot differentiate potential chromosome differences between the placenta and fetus. A definitive genetic diagnosis of the fetus requires cytogenetic analysis of either amniotic fluid or chorionic villus sampling (CVS).

    Combined first trimester screening 82% 1 in 26
    NIPT >99% <1 in 1,000
    Accuracy (T21, T18, T13) Sensitivity* False-positive rate#

    * Proportion fetuses with trisomy correctly identified by the test as high probability of disorder.

    # Proportion of normal fetuses incorrectly identified by the test as high probability of disorder.

     

    NIPT Performance data in a general screening population
    Trisomy 21 >99.9% (95% CI:97.1%) >99.90% (95% CI:99.63%)
    Trisomy 18 >99.9% (95% CI:91.4%) >99.90% (99.64% CI:97.1%)
    Trisomy 13 >99.9% (95% CI:87.1%) >99.90% (95% CI:99.64%)

    Who can have this test?

    NIPT can be ordered by healthcare professionals for women with pregnancies of at least10 weeks’ gestational age. This test can be requested for any singleton or twin pregnancy, including those conceived naturally or by IVF using the patient’s own egg or a donor egg.

    Note that, in twin pregnancies, sex chromosome (X and Y) analysis can determine fetal sex but not sex chromosome conditions. This test is not suitable in the case of a vanishing twin. The sex of twins will be reported as one result. If male, one or both of the twins will be male. If female, both twins will be female.

    The test does not assess risk for mosaicism, partial trisomies or translocations.

    Why might a repeat sample be necessary for the NIPT?

    There needs to be enough fetal DNA in the maternal blood to be able to provide a result. If there is insufficient fetal DNA in the sample (which occurs in 2% of cases), another blood sample from the mother may be required. This will be processed in the laboratory at no extra charge.

    What happens at the Non-Invasive Prenatal Test?

    Once the mother has taken an independent personal decision that she wants to have the NIPT (non-invasive prenatal test) performed, she will be asked to sign a consent form and her blood sample can be taken from a vein in her arm

    Who carries out the analysis of the Non Invasive Pre-Natal Test?

    The mother’s sample and completed request form need to be sent to TDL Genetics, where the test is performed on the DNA extracted from her blood sample.

    Will the Mum-to-be need to have any other test?

    NIPT does not provide information on mosaicism, partial trisomies or translocations, or other rare chromosomal abnormalities. If the ultrasound scan shows a high nuchal translucency or other major physical defects such as brain abnormalities, heart abnormalities, the risk for some rare chromosomal defects may be high. In such cases, the mother may choose to have a CVS or an amniocentesis.

    The non-invasive prenatal test does not provide information on other physical defects such as spina bifida, or information on fetal growth. It is therefore advisable that the mother has all the usual ultrasound scans during her pregnancy.

    What is Trisomy 21?

    Trisomy 21 is the most common trisomy, at the time of birth. Also called Down syndrome, it is associated with moderate to severe intellectual disabilities and may also lead to digestive disease, congenital heart defects and other malformations.

    What are Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome)?

    Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome) are associated with a high rate of miscarriage. These babies are born with severe brain abnormalities and often have congenital heart defects as well as other birth defects. Most affected individuals die before or soon after birth, and very few survive beyond the first year of life.

    What are sex chromosome conditions?

    The sex chromosomes (X and Y) determine whether we are male or female. X and Y chromosome conditions occur when there is a missing, extra, or incomplete copy of one of the sex chromosomes. The Harmony with X, Y test can assess risk for XXX, XYY, XXYY, XXY (Klinefelter Syndrome), and a missing X chromosome in a girl (Turner Syndrome). There is significant variability in the severity of these conditions, but most individuals have mild, if any, physical or behavioural features. If the mother is interested in having this optional testing, she should talk with her healthcare provider to determine if it is right for her.

    What happens if an assessment cannot be provided?

    On rare occasions, NIPT is unable to provide an assessment of the probability of specific chromosome disorders. This usually reflects the complex biology of genetics and pregnancy, and is not due to a failing in the laboratory.

    If NIPT cannot provide a specific assessment, it is not worth repeating the NIPT (unless advised by the laboratory). A decision about other tests (maternal serum screening, detailed ultrasound, amniocentesis or CVS) should be based on the doctor’s assessment of all risk factors identified, and may require specialist consultation.

    nuchal-translucency

    Nuchal Translucency

    12-14 weeks

    anatomy-survey

    Anatomy Survey

    21-22 weeks

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    Later Dating

    10-17 weeks

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    19 weeks onwards

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    Growth & Well Being

    22 weeks onwards

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    Post Dates & Liquor

    40 weeks onwards

    Testimonials

    What Our Patients Say

    Gráinne Macken

    This is my second visit to Merrion Fetal, I was very pleased on both occasions. Lovely quiet waiting room, appointment was on time. The 20-week scan is very detailed we enjoyed watching our baby on the large TV screen. We got some beautiful photos. The nurse was very pleasant and talked us through all the measurements and anatomy. I would highly recommend this scanning clinic.”

    Áine Gibney

    I had the best experience at the Merrion Fetal Health clinic for my 20-week big scan. The staff were so friendly and so nice and the lovely lady who did my ultrasound scan was amazing. She was so thoroughgoing to absolutely everything and gave me such reassurance on how my baby was growing and developing. I would recommend any Mother to be to attend here if you are looking for a comfortable, reassuring and super pleasant experience.”

    Linda O'Sullivan

    Highly recommend! We had an early scan due to a little scare at the start of pregnancy and then another at 12 weeks to make sure all was good again. Helen who was scanning on both days was fantastic. We felt totally relaxed and un-rushed while she took her time finding the best angle of baby to get us the clearest pictures as keepsakes all while making sure everything was perfect with baby. She reassured us throughout and I can honestly say it was the best money we ever spent getting both scans done.

    Please let Helen know we are 18 weeks now and flying along Highly recommend!

    .”

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    DISCLAIMER

    All articles on the blog and website are intended as information only. Please do not consider any of the information provided here as a substitute for medical advice. At all times seek medical advice directly with your own doctor and medical team.

    ANNOUNCEMENT

    This website was formerly Merrion Fetal Health. The clinic has undergone a rebrand and is now known as Merrion Ultrasound.