Non-Invasive Prenatal Testing

Gestation Required: From 9 Weeks

From €320
Available at Bray, Dublin, Gorey
In collaboration with the Rose Clinic Bray, we offer various NIPT packages, including PrenatalSAFE and Panorama.

Information on Prenatal Screening and NIPT Tests

Non-Invasive Prenatal Testing (NIPT) is a screening tool used to assess the likelihood that your baby may have certain genetic conditions. While the majority of babies are born healthy and develop typically, a small number may have genetic conditions that can lead to disabilities or significant health concerns.

During pregnancy, small fragments of your baby’s DNA (fetal DNA) naturally circulate in your bloodstream. NIPT analyses this fetal DNA through a simple blood sample taken from the mother.

The process begins with an ultrasound to confirm the pregnancy and determine gestational age. This scan is performed by ourselves in any of our clinics, and the cost is included in the total fee.

Following the ultrasound, a blood sample is collected in Rose Clinic Bray. This sample is used to analyse the fetal DNA and estimate the risk of chromosomal abnormalities or certain genetic disorders. Since this is a non-invasive procedure, there is no risk of miscarriage associated with the test.

Results are typically available within 7–10 days. However, more comprehensive screening panels may take up to 6 weeks.

How to book

All NIPT packages can be booked by phoning or emailing Rose Clinic Bray. 

The scan can be performed in any of our clinics. The blood tests will be performed in Rose Clinic Bray.

info@roseclinicbray.ie

Genetic Conditions and Prevalence

● Trisomy 21 (Down Syndrome): Occurs in about 1 in 450-500 live births in Ireland, characterised by
an extra copy of chromosome 21, leading to developmental delays and distinct physical features.
More info: CDC – Down Syndrome.
● Trisomy 18 (Edwards Syndrome): Happens in approximately 1 in 5,000 live births and is
associated with severe developmental and health challenges due to an extra chromosome 18.
Babies with Edwards Syndrome often have a high risk of death before or shortly after birth. More
info: CDC – Edwards Syndrome.
● Trisomy 13 (Patau Syndrome): Occurs in about 1 in 16,000 live births and is linked to severe
intellectual disability and physical abnormalities. Similar to Edwards Syndrome, babies with Patau
Syndrome are more likely to die before or shortly after birth. More info: CDC – Patau Syndrome.
● Monosomy X (Turner Syndrome): Affects 1 in 2,500 live female births, characterised by the
absence of one X chromosome, leading to various developmental issues. More info: NIH – Turner
Syndrome.
● XXY Syndrome (Klinefelter Syndrome): Occurs in about 1 in 1,000 male births, resulting from an
extra X chromosome and can cause a range of physical and developmental issues. More info: NIH –
Klinefelter Syndrome.
● Triple X Syndrome: Affects approximately 1 in 1,000 female births, usually resulting in taller stature
and potential learning difficulties. More info: NIH – Triple X Syndrome.
● XYY Syndrome (Jacob’s Syndrome): Occurs in about 1 in 1,000 male births and is often
associated with taller than average height and potential learning difficulties. More info: NIH – XYY
Syndrome.
● Triploidy: Happens in approximately 1 in 10,000 live births and results from an extra set of
chromosomes, often leading to miscarriage or stillbirth. More info: CDC – Triploidy.

● 22q11.2 Deletion Syndrome (DiGeorge Syndrome): Occurs in about 1 in 4,000 live births, leading
to heart defects, immune deficiencies, and developmental delays. More info: NIH – 22q11.2 Deletion
Syndrome.
● 1p36 Deletion Syndrome: Affects around 1 in 5,000 live births, associated with developmental
delays and distinct facial features. More info: NIH – 1p36 Deletion Syndrome.
● Angelman Syndrome: Occurs in about 1 in 15,000 live births and is characterised by severe
developmental delays, balance issues, and a happy demeanor. More info: NIH – Angelman
Syndrome.
● Cri-du-chat Syndrome: Happens in approximately 1 in 15,000 to 1 in 50,000 live births, leading to
developmental delays and distinctive features. More info: NIH – Cri-du-chat Syndrome.
● Prader-Willi Syndrome: Occurs in about 1 in 15,000 live births and is characterised by
hyperphagia (excessive eating), obesity, and developmental delays. More info: NIH – Prader-Willi
Syndrome.
● Wolf-Hirschhorn Syndrome: Affects approximately 1 in 50,000 live births, resulting from a deletion
of part of chromosome 4 and associated with severe developmental delays and distinct facial
features. More info: NIH – Wolf-Hirschhorn Syndrome.

Important Note
The prevalence rates of these conditions can vary based on multiple factors, including maternal age and
genetic predisposition. For a comprehensive overview of these and other genetic conditions, consider
visiting Genetics Home Reference and the National Organization for Rare Disorders.

FAQ's

Non-invasive prenatal testing (NIPT) analyses cell-free fetal DNA in the mother’s blood. It screens for Down syndrome (trisomy 21) and other conditions such as Edward’s syndrome (trisomy 18) and Patau syndrome (trisomy 13), as well as X and Y chromosome conditions. This simple blood test must be performed in conjunction with a dating ultrasound.

The fetus’s sex can be determined with >99% accuracy, and the accuracy for detecting other sex chromosome anomalies varies by condition. Importantly, less than 1% of women need invasive testing (amniocentesis or CVS) after undergoing NIPT. If the results indicate a high risk for one of the conditions, it does not definitively mean the fetus has the condition, but it is highly likely. Therefore, in such cases, we recommend amniocentesis or CVS. These tests are specific to the mentioned conditions and do not rule out all fetal and pregnancy-related abnormalities.

While most patients receive conclusive results, there is a higher likelihood of inconclusive results for mothers weighing over 85kg, those using blood thinners such as Clexane, IVF pregnancies, and twin pregnancies.

This can cause unnecessary concern and require repeating the test. If you fall into one of these categories, we recommend waiting until 11 or 12 weeks (or later) to perform your NIPT, as fetal fraction increases with gestational age, reducing the likelihood of inconclusive results.

The nuchal scan screens for Down’s Syndrome, Edwards’ Syndrome, and Patau’s Syndrome. This assessment considers the mother’s age, fetal heart rate, levels of two hormones in the mother’s blood (free ß-hCG and PAPP-A), and scan findings, including nuchal translucency thickness (fluid behind the baby’s neck), nasal bone, and any fetal abnormalities. Parents will receive comprehensive counselling about the significance of these risks and the options for further investigations, including invasive testing or NIPT.

We follow the Fetal Medicine Foundation’s recommended protocol, where blood tests are done at 10 weeks and the scan at 12 weeks.

This approach increases detection rates by up to 94%. It requires two separate visits, but we prioritise achieving the highest accuracy.

If scheduling this way is challenging, blood tests can be performed from 9 weeks 0 days to 13 weeks 6 days, and the scan from 11 weeks 2 days to 13 weeks 6 days. Booking the scan independently, without the blood tests, results in about 75% accuracy.

The American College of Obstetricians and Gynecologists, the American Institute of Ultrasound in Medicine, and the Society for Maternal–Fetal Medicine recommend using ultrasound measurement in the first trimester as the most accurate method to establish or confirm gestational age. The earlier this measurement is performed, the more accurate the estimated gestational age and due date, provided the baby is developed enough to actually measure (6 weeks plus).

Take home Package

The ultrasound suite offers a fantastic package for expectant parents to take home after their pregnancy scan.

This comprehensive package includes a detailed ultrasound report and two glossy photograph printouts, capturing precious moments in high-quality images.

Additionally, digital pictures and a video clip of the scan are conveniently sent to you via SMS or email, ensuring that these cherished memories are easily accessible and shareable with loved ones.

Meet

Our Sonographers

Debbie Sudding
Deborah Sudding

Director and Clinical Specialist Sonographer

Deborah has been a qualified sonographer for over 18 years. As the Director, she is deeply committed to outstanding patient-centred healthcare, continually striving to enhance the quality of care through innovation and compassionate leadership. Her dedication ensures that every patient receives the highest standard of diagnostic imaging and personalised attention.
Danyelle Howard
Danyelle Howard Hill

Lead Clinical Specialist Sonographer

With over 14 years of experience, Danyelle Howard Hill excels in performing a diverse range of ultrasound examinations. Her commitment to compassion and professionalism sets her apart as a leader in the field. She sits on the management team as Lead Clinical Specialist Sonographer.
Diana Ciornei
Diana Ciornei

Clinical Specialist Sonographer

Diana Ciornei has over seven years of sonography experience, specialising in high-risk obstetrics and patient care. Her expertise extends to abdomen, gynaecological, small parts, and vascular studies. Diana’s strong communication skills enhance her ability to deliver quality diagnostic ultrasound examinations, ensuring optimal patient care.
Olesia
Olesia Cabric

Clinical Specialist Sonographer

Olesia Cabric is a highly skilled sonographer with extensive knowledge of complex perinatal cases. She also has a versatile background in abdomen, gynaecology, and vascular ultrasound exams. With eight years of sonography experience, Olesia is fluent in English and Russian and has a passion for travel.
Rebecca
Rebecca Falnes

Clinical Specialist Sonographer

Rebecca Falnes, a Johns Hopkins graduate, brings over eleven years of comprehensive experience in obstetrics, general, vascular, echocardiography, paediatrics, transplants, and ABI/TBI/PVR ultrasound exams. An avid hiker, Rebecca’s distinguished background includes service in the United States Air Force as a Korean Linguist and Intelligence Analyst.

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