Non-Invasive Prenatal Test NIPT

NIPT (Non-Invasive Prenatal Test)

The Northway Clinic’s NIPT (Non-Invasive Prenatal Test) in Canning Town, London is an advanced and revolutionary method for detecting genetic abnormalities in the fetus during pregnancy. Using advanced sequencing technology, it analyses cell-free DNA circulating in the pregnant mother’s blood.

Chromosomal abnormalities can occur in any pregnancy. Our NIPT test screens for the most common ones:

• Trisomy 21 (Down’s Syndrome), Trisomy 18 (Edward’s Syndrome), and Trisomy 13 (Patau’s Syndrome)
• Sex Chromosome anomalies X(O) – Turner’s Syndrome, XXY – Klinefelter’s Syndrome, XYY – Jacob’s Syndrome, XXX – Triple X Syndrome
• 6 common microdeletions (NIPT Advance only)
• High demand 92 microdeletions (NIPT Absolute only)
• It can also be used to determine the baby’s sex (optional).

A blood test is drawn from the mother as early as 10 weeks into pregnancy (but not earlier) to evaluate potential chromosomal conditions in the baby. NIPT is more accurate than traditional first-trimester screening tests, it gives fewer false positive alarms and is proven by clinical evidence. NIPT is now endorsed by the American College of Obstetricians and Gynaecologists and the Society for Maternal-Fetal Medicine for all pregnant mothers regardless of age or risk.

How is the test done?

An ultrasound scan must be performed first to confirm that the baby is healthy and developing normally. The baby needs to measure over 10 weeks gestation for the test to be accurate. If you haven’t already had an ultrasound scan elsewhere, our experienced doctors can provide one during your consultation. A consultation, including an ultrasound, costs an additional £250 and can be booked by calling us. During your appointment, our doctors will clearly explain the advantages and disadvantages of prenatal screening, helping you choose the best test for your circumstances.

The screening involves a simple blood sample drawn from the mother’s arm (similar to any other blood test). This sample is then sent to our advanced UK-based laboratory for analysis. Because the test is non-invasive, it is completely safe for both mother and baby. Results typically take between 4 and 10 days.

What do the results mean?

NIPT assay called Veriseq v2 has >99% detection rate for aneuploidies. The NIPT is a screening test so you will not get a positive or negative result. The results are ‘high probability’ and ‘low probability’.

A high probability result usually means you will be referred for detailed ultrasound scans, invasive testing, counselling, and referral to another specialist to confirm whether or not your baby has the condition.

How much does the NIPT test cost in London?

NIPT ADVANCE Test Price: £300

T21, T18 and T13, gender detection, sex chromosome anomalies and 6 key microdeletion syndromes

NIPT ABSOLUTE Test Price: £350

T21, T18 and T13, gender detection, sex chromosome anomalies and 92 key microdeletion syndromes

If your ultrasound scan to confirm a minimum of 10 weeks of gestation was performed elsewhere, please note that we cannot accept responsibility if the test fails due to the pregnancy being under 10 weeks of gestation. In these cases, the doctor’s consultation is not included.

Schedule your NIPT appointment today! Choose a convenient date and time and prepay online:

Non-Invasive Prenatal Test FAQs

What’s the reason for undergoing the test?

NIPT identifies anomalies as early as week 10 with high precision and minimal false positives.

How does the test work?

The test involves a straightforward blood draw from the expectant mother’s arm that yields both maternal and fetal DNA. Non-invasive pre-natal tests aid in determining potential chromosomal conditions in your baby.

What’s the level of accuracy?

This Illumina NIPT boasts a detection rate of over 99% for aneuploidies.

What is a trisomy?

Typically, the human body comprises 46 chromosomes in every cell, organised as 23 pairs. These pairs encompass all the DNA necessary to assess the baby’s well-being. In some cases, genetic irregularities arise when a baby acquires three copies of a specific chromosome instead of the usual two. The risk of having a chromosomal condition increases with maternal age.

What is Trisomy 21?

Trisomy 21 is a condition that is caused by an extra chromosome 21 (three copies
instead of two). Individuals with trisomy 21 have variable physical features and intellectual disability. Some common features of trisomy 21 include heart defects, duodenal atresia, low muscle tone, and differences in facial features. Some of these structural findings may be identified in a second-trimester ultrasound evaluation. Trisomy 21 is the most common chromosome anomaly, occurring in 1 in 700 to 800 live births.

What is trisomy 18?

Trisomy 18 is a condition that is caused by an extra chromosome 18 (three copies instead of two). Individuals with trisomy 18 have severe intellectual disability and abnormalities involving multiple organs. Some of the common features of trisomy 18 include heart defects, brain abnormalities, musculoskeletal problems, cleft lip and palate, clenched hand, and low birth weight. Trisomy 18 occurs in 1 in 6000 to 8000 live births.

What is trisomy 13?

Trisomy 13 is a condition that is caused by an extra chromosome 13 (three copies instead of two). Individuals with trisomy 13 have severe intellectual disability and abnormalities involving multiple organs. Common features of trisomy 13 include heart defects, omphalocele, brain abnormalities such as holoprosencephaly, cleft lip and palate, and other features. Trisomy 13 occurs in approximately 1 in 12,000 live births.

What are sex chromosome aneuploidies?

Sex chromosome anomalies (SCA) occur when there is a missing, extra or partial/incomplete sex chromosome (X or Y).

The London NIPT looks for SCAs such as:

X(O) – Turner’s Syndrome A condition affecting females, due to a partially or completely missing sex chromosome. Most of them can lead a normal life with regular medical care.

XXY – Klinefelter’s syndrome is an aneuploid genetic condition where a male has an additional copy of the X chromosome. The primary features are infertility and small, poorly functioning testicles

XYY- Jacob’s syndrome is a genetic condition having an extra copy of the Y chromosome in each of a male’s cells, the chromosomal change sometimes causes no unusual physical features

XXX- Triple X syndrome A genetic disorder characterized by the presence of an additional X chromosome in female children. They are often taller than average girls.

What are the 6 syndromes of deletion and duplication included in NIPT ADVANCE?

These are genetic conditions caused by the loss of a small piece of a chromosome. Unlike the larger chromosomal abnormalities mentioned above, microdeletions are often too small to be detected by traditional karyotyping. The clinical significance of a microdeletion depends on the size and location of the deleted genetic material, as it can lead to various health and developmental issues. Examples of well-known microdeletion syndromes include DiGeorge syndrome and Prader-Willi syndrome. The full list of microdeletions tested:

DiGeorge syndrome 2

DiGeorge syndrome 2 involves cardiac malformations, hypoparathyroidism, T-cell immunodeficiency, and facial dysmorphism. These features overlap with the anomalies reported in the 22q11.2 deletion syndrome (DiGeorge syndrome). In addition, other common features also include an abnormally shaped skull, abnormally small head size (microcephaly), hand and foot abnormalities, a long face, a high forehead, a broad nasal bridge, genitourinary anomalies, severe psychomotor retardation, and hearing loss, resulting in a clinical picture that clearly differs from that of the DiGeorge syndrome. However, because of several similarities in the abnormalities observed in individuals with deletions 22q11.2, the syndrome is often referred to as DiGeorge syndrome 2.

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1p36 microdeletion syndrome

1p36 deletion syndrome is characterised by characteristic craniofacial features, intellectual disability, seizures, skeletal abnormalities, and brain and cardiac defects. Prenatal ultrasound may identify structural anomalies, including cardiac defects, agenesis of the corpus callosum, hydrocephalus, and microcephaly. However, a normal ultrasound does not rule out the underlying anomaly. Lifespan is variable but can be normal.

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Angelman syndrome/Prader-Willi syndrome (15q11-q13 deletion syndrome)

Prader-Willi syndrome (PWS) is a genetic syndrome that causes difficulty feeding and failure to thrive in infancy, with obesity, developmental delay, and other medical problems as the child gets older. It affects approximately 1 in 10,000 to 1 in 25,000 newborns. NIPT can detect PWS caused by a deletion, which accounts for approximately 70% of cases; the remaining cases are caused by other underlying molecular mechanisms. Deletion in PWS is on the paternally inherited chromosome.

Angelman syndrome (AS) is a rare genetic syndrome that includes intellectual disability and other serious medical problems. It affects approximately 1 in 12,000 to 1 in 20,000 newborns. NIPT can detect AS caused by a deletion, which accounts for approximately 68% of cases; the remaining cases are caused by other underlying molecular mechanisms. Deletion in AS is on the maternally inherited chromosome.

People with Prader-Willi syndrome have severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity. Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment and may also have behaviour problems. Prenatal ultrasounds are usually normal; however, decreased fetal movement and breech position may be seen. A normal lifespan is expected.

Common features in individuals with Angelman syndrome include intellectual disability, severe developmental delay, speech impairment, ataxia, seizures, and dysmorphic features. A prenatal ultrasound is usually normal. A normal lifespan is expected.

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Prader-Willi-like syndrome (SIM1 syndrome)

Prader-Willi-like syndrome is characterised by diminished foetal activity, obesity, muscular hypotonia, intellectual disability, short stature, hypogonadotropic hypogonadism, and small hands and feet.

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Cri-du-chat syndrome (5p deletion syndrome)

5p deletion syndrome, also known as Cri-du-chat syndrome, is a genetic syndrome characterised by birth defects, intellectual disability, and other serious medical issues. Key features of this syndrome include significant intellectual disability, speech delay, cat-like cry, dysmorphic features, cardiac defects, and microcephaly. There is a 10% mortality rate in the first year. Approximately 1 in 20,000 to 1 in 50,000 live births have this condition.

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4p16.3 deletion syndrome (Wolf-Hirschhorn syndrome)

Wolf-Hirschhorn syndrome is a rare genetic syndrome characterised by birth defects, intellectual disability, and other serious medical issues. Key features of this syndrome include prenatal-onset growth deficiency followed by postnatal growth retardation and hypotonia with muscle underdevelopment, typical craniofacial features in infancy consisting of the characteristic appearance of the nose, microcephaly, intellectual disability of variable degree, seizures, skeletal abnormalities, congenital heart defects, hearing loss (mostly conductive), urinary tract malformations, and structural brain abnormalities.

Which high-demand 92 microdeletions are included in NIPT ABSOLUTE?

How accurate are NIPT results?

NIPT is extremely accurate. The test identifies 99.9% of pregnancies with trisomy 13, trisomy 18, or trisomy 21.

Can I pre-book the NIPT test at your Canning Town (East London) clinic in advance?

Yes, you can book an appointment for a date after 10 weeks of gestation (pregnancy).

How long does it take to get results, and is a consultation included?

Our clinician will share the results via email within 4-7 working days (excluding weekends and bank holidays), once the samples reach the laboratory in the UK. In case of a ‘high probability’ result, the specialist will contact and explain the next steps. This test is designed for patients under the care of our doctors or other healthcare providers. If your test results show ‘low probability’, and you would still like to discuss them with us, you will need to book a consultation with one of our fertility specialists.

Is this NIPT valid for twin pregnancies?

Yes, we can report NIPT on twin pregnancies, but the result will only be able to say the likelihood of an affected pregnancy; it cannot tell which Twin or if both Twins are affected.

What if I have a Vanishing twin syndrome pregnancy?

NIPT is not advised if you have a vanishing or demised twin pregnancy.

How do you report the sex of a fetus in a twin pregnancy?

The laboratory will only be able to determine that you have a pregnancy with 2 girls or a pregnancy with at least 1 male.

Limitations of NIPT

The VeriSeq NIPT Solution v2 is not validated for use in pregnancies with more than two fetuses, fetal demise, mosaicism, partial chromosome aneuploidy, triploidy, translocations, maternal aneuploidy, transplant or malignancy. VeriSeq NIPT Solution v2 does not detect neural tube defects. Certain rare biological conditions may also affect the test’s accuracy.

For twin pregnancies, HIGH PROBABILITY test results apply to at least one fetus; male test results apply to one or both fetuses; female test results apply to both fetuses. Due to the test’s limitations, inaccurate results are possible.

A LOW PROBABILITY result does not guarantee that a fetus is unaffected by a chromosomal or genetic condition. Some non-aneuploid fetuses may have HIGH PROBABILITY results. In cases of HIGH PROBABILITY results and/or other clinical indications of a chromosomal condition, confirmatory testing is necessary for diagnosis.