Non-Invasive Prenatal Testing (NIPT)

Accurate Prenatal Testing

MUMS offer two NIPT options.

1. Harmony Test
2. Panorama Test

The NIPT test performance is superior to traditional screening for Down syndrome.

Harmony and Panorama are blood tests that screen for specific chromosome conditions in a pregnancy from as early as 9 weeks for Panorama and 10 weeks for Harmony.

About the test…

These tests include the following information for you which you may or may not want to know so you can decide at the time of the test which information you are interested in.

• Monosomy X – Also called Turners syndrome, a condition where a female is missing an X chromosome, and as a result, may have heart, endocrine, and learning problems
• DiGeorge syndrome (22q11.2 deletion syndrome) – A condition caused by a small missing piece (‘deletion’) of chromosome 22, which can result in heart, kidney, learning, and growth problems
• Sex Chromosome Aneuploidy – It is useful to detect the difference in the number of X and Y chromosome. This can result in certain learning and/or behavioural challenges in addition to other health issues.
• Fetal sex – Knowing whether your baby is male or female (also available with twins) can help you bond with the baby and prepare for either a boy or a girl.

Chromosomal conditions like Down syndrome do not typically run in families and can happen in any pregnancy. Although the chance of having a baby with Down syndrome increases with age, most babies with Down syndrome are born to women under 35 as the uptake of screening is less in this cohort of patients.

The Harmony and Panorama NIPT tests are a cell-free DNA-based blood test. The test can be used in singleton, twin, and egg-donor pregnancies

 It can be administered as early as 9 weeks gestation.

The tests can screen for:

• Trisomies 21, 18, and 13 – Harmony and Panorama
• Sex chromosome aneuploidy - Panorama
• Monosomy X - Panorama
• 22q11.2 deletion- Panorama
• Fetal sex – Harmony and Panorama

Panorama Test

An extended panel of testing is available with Panorama.

This Non-Invasive Prenatal Test (NIPT) analyses cell-free DNA circulating in a naturally pregnant mother’s blood. It is used screen for Down syndrome (Trisomy 21) and other common chromosomal conditions (Trisomies 18 and 13). Screening for X and Y chromosome conditions or for a deletion in chromosome 22q11.2 and other chromosomes are also available – These are called Microdeletions:

• 1p36 deletion syndrome
• Prader Willi syndrome
• Angelman syndrome
• Cri-du-chat syndrome

Please note that for Twin/Donor/Surrogacy pregnancies the extended panel/microdeletions cannot be performed.

About the test

Cell Free ( CF DNA ) from the baby, naturally circulates in the mother’s blood. This DNA 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 pregnancy, cfDNA can be tested to give the most accurate screening in estimating the risk of a baby 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 babies die during pregnancy 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 chromosome. Both Panorama and Harmony tests with sex chromosome aneuploidy panel option can assess risk for XXX, XYY, XXYY, XXY (Klinefelter syndrome), and a missing X chromosome in a girl (Turner syndrome).

Risk

The testing is non-invasive. It involves taking a blood sample from the mother which means there is no risk to the baby.

There is a 3-5% chance that we might not get a result and a repeat sample will be required. This can be due to lack of fetal DNA or laboratory failure. Two samples are sent to the laboratory so in the event of the first sample failing, a 2nd back up test can be analysed.  If both samples fail, we offer a repeat test at no extra cost.

Who can have this test?

Women who are at least 9 weeks pregnant can have Panorama.
Women who are at least 10 weeks pregnant can have Harmony.

These tests 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. In Twin pregnancies, sex chromosome (X and Y) analysis can determine fetal sex but not sex chromosome conditions. The Harmony test also does not assess the risk of mosaicism, partial trisomies or translocations.

Results

Harmony – 10 days from arriving at the laboratory in London
Panorama – 10 days from arriving at the laboratory  in California

Women still can have their 12-week NHS or Private scan for a detailed examination of the fetal anatomy, including measurement of nuchal translucency, nasal bone and other important factors. At this appointment, patients can discuss NIPT result with their obstetrician.

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 recommended that the mother has all the usual ultrasound scans during her pregnancy.