Discover The Power Of Non-Invasive Prenatal Testing (NIPT) For A Safer Pregnancy Journey

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GENETIC TESTING DURING PREGNANCY

PrenatalSEQ

The PrenatalSEQ Test screens for the detection of:

Trisomy 21 (Down syndrome)
Trisomy 18 (Edwards syndrome)
Trisomy 13 (Patau syndrome)
Sex Chromosomal Disorders
Fetal Sex Determination

What is the PrenatalSEQ 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 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).

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

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Panorama

The Panorama Test screens for the detection of:

Trisomy 21 (Down syndrome)
Trisomy 18 (Edwards syndrome)
Trisomy 13 (Patau syndrome)
Triploidy
Monosomy X (Turner syndrome)
Sex Chromosomal trisomies

What is the Panorama Test?

Panorama screens for genetic changes that most often happen by chance.

During your pregnancy, your blood contains DNA from both you and your baby’s placenta. Panorama looks at the placental DNA to see if there are signs of certain chromosomal conditions that could affect your baby’s health.

Results are typically available in seven to ten days (once the sample reaches the lab). Your consultant will receive your personalised risk report that indicates if your pregnancy is at high or low risk for the screened conditions.

Panorama is the most widely ordered NIPT in the US. Only a simple blood draw is required. Panorama is the only NIPT that can tell the difference between your DNA and the baby’s DNA, leading to fewer incorrect results and no fetal sex errors in clinical validation studies.

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NIPT FOR DETECTION FETAL CHROMOSOMAL ABNORMALITIES

Harmony

The Harmony Test screens for the detection of:

Trisomy 21 (Down syndrome)
Trisomy 18 (Edwards syndrome)
Trisomy 13 (Patau syndrome)
Sex Chromosomal Disorders
Fetal Sex Determination

What is the Harmony Test?

Harmony® Test is a non-invasive method for the detection of the fetal trisomies in the unborn child, based on the analysis of the genetic material (fetal DNA) that circulates in the mother’s blood.

The Harmony® Test is an early and reliable prenatal screening test for the mother’s blood after completion of the 10th week of gestation.

In chromosomally health fetuses, the genetic information is stored in 23 pairs of chromosomes. A trisomy is a chromosomal disorder in which a certain chromosome occurs three times instead of twice.

Trisomy 21 is the most common form of a chromosomal disorder at birth. It occurs in approximately one out of every 830 newborns. The probability of its occurrence depends to a large extent on the age of the mother. A trisomy 21 leads to “Down syndrome”, which can cause mild to moderate mental disability as well as other illnesses such as congenital heart diseases. The average life expectancy of affected persons today is around 60 years.

Trisomy 18 causes “Edwards syndrome”. This trisomy appears in approximately one out of every 5,000 newborns. Trisomy 13 (“Patau syndrome”) affects approximately one out of every 16,000 newborns. Both trisomies are associated with a high rate of miscarriage. Affected children suffer from several disorders simultaneously, including serious heart diseases. The mean life expectancy of babies affected by trisomy 18 or 13 is only a few months and they rarely survive their first year of life.

The risk for both trisomies also depends on the age of the mother.

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Providing trusted prenatal screening with care and clarity.

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YOUR QUESTIONS, ANSWERED WITH CAREFrequently Asked Questions

Whether you’re just starting to learn about non-invasive prenatal testing or getting ready to book your appointment, these FAQs cover the most common questions from expectant parents.

What can be detected with an NIPT test?

What can be detected with an NIPT test?
Non-Invasive Prenatal Testing (NIPT) can screen for certain genetic conditions caused by changes in your baby’s chromosomes. The conditions screened vary slightly depending on which test you choose — Harmony, Panorama, or PrenatalSEQ.

All three tests (Harmony, Panorama, PrenatalSEQ) can screen for:

Trisomy 21 (Down syndrome)
Trisomy 18 (Edwards syndrome)
Trisomy 13 (Patau syndrome)
Sex chromosome disorders (e.g. Monosomy X / Turner syndrome, Klinefelter syndrome, Triple X syndrome, XYY syndrome) — optional
Fetal sex determination — optional

Additional conditions:

XXYY — Harmony only
22q11.2 deletion syndrome (DiGeorge syndrome) — Panorama only
Five microdeletions panel — Panorama optional
Triploidy — Panorama only

Your healthcare provider or clinic can help you decide which NIPT option is right for you, based on your pregnancy and the conditions you’d like to screen for.

Why might a doctor recommend an NIPT test?

Your doctor may suggest Non-Invasive Prenatal Testing (NIPT) — also called cell-free DNA screening — for a variety of reasons. NIPT screens for certain chromosomal conditions in a developing baby using a simple blood test, with no risk to the pregnancy.

Common reasons include:

Higher-risk pregnancies — for example, if you are 35 or older, have a family history of genetic disorders, or have had a previous pregnancy affected by a chromosomal condition.
Abnormal results on other prenatal screenings — NIPT can provide more detailed information following an earlier screening.
Personal choice — many parents choose NIPT for peace of mind and to help them prepare for their baby’s arrival.

It’s important to remember that NIPT is a screening test, not a diagnosis. A high-risk result does not confirm a condition but may lead your doctor to recommend further diagnostic testing, such as amniocentesis or chorionic villus sampling (CVS), for a definitive answer.

What happens if your NIPT test is positive?

If you receive a High Risk result, your healthcare practitioner will need to go through all the options with you such as additional diagnostic testing.

Are NIPT tests accurate?

Yes. While exact accuracy can vary slightly between different NIPT tests, they are all considered highly accurate screening tools for detecting certain chromosomal conditions.

No medical test is 100% perfect, but NIPT offers very high sensitivity and specificity — meaning it is excellent at detecting conditions when they are present, and has a low chance of giving a false result.

Compared with more invasive procedures like amniocentesis or chorionic villus sampling (CVS), NIPT poses no risk to the baby while still providing reliable results from as early as 9–10 weeks of pregnancy.

How do I book an appointment?

Contact the Antenatal Clinic at UMHL, they will get you booked in. Phone: 061 483 100.

When can I get an NIPT test done?

This can vary between tests:

Harmony – From 10 weeks
PrenatalSEQ – From 10 weeks
Panorama – From 9 weeks

Is an NIPT test painful?

Obtaining the blood for an NIPT test is only done on the mother and is a standard blood draw. There is no risk to the fetus and is no more painful than a usual blood draw.

Can an NIPT test tell me my baby’s sex?

Yes — Harmony, Panorama, and PrenatalSEQ can all determine your baby’s sex with a very high level of accuracy.

This is completely optional, so you can choose whether or not you’d like this information included in your results.

What is the cost of the NIPT test?

The PrenatalSEQ, Harmony and Panorama NIPT are priced at €340. After payment is received you will be sent a receipt by email and a text message noting what test you have paid for. Please have this to hand at your appointment.

How will I receive my results?

You will be contacted by UMHL to discuss your results when they are available. Any queries please contact the hospital. Phone: 061 483 100.