What is Non-Invasive Prenatal Test (NIPT)
Non-invasive prenatal testing (“NIPT”) is a relatively new type of screening test that can tell more about your unborn baby than ever before.
In 1997, scientists first reported the presence of small amounts of baby’s DNA (known as cell-free DNA, or cfDNA) in the mother’s blood as early as four gestational weeks1 . The rapid development of next generation
sequencing technology makes it possible to detect the risk of having chromosomal abnormalities including Down Syndrome, Patau Syndrome, Edwards Syndrome and other genetic conditions non-invasively.
The American Congress of Obstetricians and Gynecologists (ACOG) Recommends all pregnant women regardless of age to be offered screening for foetal chromosomal abnormalities.2

What are NIPT brands available?

Prévue™ is the most validated NIPT test that screens for the most common chromosomal abnormalities such as Down syndrome. The test is done through a simple blood draw as early as 10 weeks into your pregnancy.

From a simple blood draw as early as 10 weeks into your pregnancy, NICE® screens for the most common chromosomal abnormalities that can affect your developing baby's future. This test is done with little or no risk to your pregnancy.
Why Choose Non Invasive Prenatal Testing

Safe and Non Invasive
Only 10mL of mother’s blood will be drawn to screen for chromosomal abnormalities without harming the baby.

Early Screening
The test can be done as early as 10 weeks of pregnancy.

Screen chromosome abnormalities
Various screening panels available to detect genetic conditions.

Most comprehensive technology
Uses Whole Genome Sequencing approach that reads millions of gene sequences to ensure comprehensive coverage with more than 99% accuracy.

Quality Testing
Your blood sample will be processed by world-class laboratory.

Clear and Simple Report
Delivers critical information as definitive results that don’t rely on ambiguous numerical risk scores.
What does Non-Invasive Prenatal Test (NIPT) screen for?
T21 (Down Syndrome) | Affects one in 800 newborns |
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T18 (Edwards Syndrome) | Affects one in 5,000 newborns |
T13 (Patau Syndrome) | Affects one in 16,000 newborns |
T22 Trisomy 22 | This disorder is found in individuals with an extra copy or a variation of chromosome 22 in some or all cells of their body. (Complete) Trisomy 22 is a frequent cause of spontaneous abortion during the first trimester of pregnancy, leading to the second most common cause of miscarriage after trisomy 16. Progression to the second trimester and livebirth are rare due to severe organ malformations associated with this condition.
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T16 Trisomy 16 | Trisomy 16 is a rare chromosomal abnormality in which there are three copies of chromosome 16 rather than two. Trisomy 16 is incompatible with life and nearly all affected babies are miscarried in the first trimester. As such, it is the most common trisomy leading to miscarriage. |
T9 Trisomy 9 | Trisomy 9 is a rare trisomy affecting the ninth chromosome either as full trisomy, trisomy mosaic or partial trisomy. Full trisomy 9 is always fatal; most babies with full trisomy 9 are miscarried in the first trimester. Those that make it to birth typically will not survive more than a few months, with most dying in the first week of life. Partial trisomy 9 and mosaic trisomy 9 have a more uncertain prognosis. Many babies with mosaic trisomy 9 die in infancy and those that survive usually have severe developmental impairments such as structural malformation to the heart (i.e. congenital heart defect). Partial trisomy 9 may not affect the baby's life expectancy, but affected babies may have a range of common health and developmental problems. |
Trisomy X (Triple X Syndrome) | Affects one in 1,000 females |
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Monosomy X (Turner Syndrome) | Affects one in 2,500 females |
XXY (Klinefelter Syndrome) | Affects one in 500 to 1,000 males |
XYY (Jacobs Syndrome) | Affects one in 1,000 males |
5p deletion syndrome (Cri du Chat Syndrome) |
Affects one in 20,000 to 50,000 newborns |
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1p36 deletion syndrome | Affects one in 5,000 to 10,000 newborns |
2q33.1 microdeletion syndrome | This rare condition results when a piece of chromosome 2 is missing. It affects the motor neurons, which are the specialised nerve cells in the brain and spinal cord that control the movement of muscles. The disorder usually causes severe mental retardation and behaviour problems. |
16p12.2 deletion syndrome | This condition results when a piece of chromosome 16 is missing. Common clinical features for 16p12.2 deletion includes: a delay in starting to speak, a degree of developmental delay or learning difficulty, growth impairment, a cardiac malformation, epilepsy and mild dysmorphic facial features without a consistent pattern. |
11q23 microdeletion syndrome (Jacobsen Syndrome) |
Affects one in 100,000 newborns |
1q32.2 microdeletion syndrome (Van der Woude Syndrome) |
Affects one in 35,000 to 100,000 newborns |
15q11.2 microdeletion syndrome (Prader Willi / Angelman Syndrome) |
Angelman syndrome affects one in 12,000 newborns whereas Prader Willi syndrome affects one in 20,000 to 50,000 newborns |
Legend:
Aneuploidy: a condition in which a person has one or a few chromosomes above or below the normal chromosome number (46). It originates during meiosis (a cell division process that gives rise to the sperm and egg) when the chromosomes do not separate properly between the two cells. For example, a common form of aneuploidy is when an individual have 3 copies of chromosome 21, which is more commonly known as Down syndrome.
How do I enrol for NIPT
1. Enquiry
Enquire with your obstetrician about NIPT service or email us.
2. Blood drawn
Upon or after assessment from your obstetrician, a simple and non-invasive blood test is collected from mother’s arm.
3. Sample processing
Your blood sample is analysed by a Whole Genome Sequencing approach using Next Generation Sequencing Technology. Between 5 -10 million DNA fragments from the whole genome are read and sequenced to achieve the highest accuracy.
4. Report
Your doctor will receive your detailed report with a definitive result of “screen positive” or “screen negative” within 12 to 14 working days.
If the screening results is negative, it suggests a low risk for the tested genetic conditions. Otherwise, women who screened positive for a particular chromosomal abnormality are advised to consult their obstetrician / doctor for further action, which may include a diagnostic confirmatory test, such as Amniocentesis or Chorionic Villus Sampling (CVS).
References:
- Jiang F, et al. BMC Medical Genomics, 2012 Dec;5:57. doi:10.1186/1755-8794-5-57
- Ob-Gyns Release Revised Recommendations on Screening and Testing for Genetic Disorders. American Congress of Obstetricians and Gynecologists.
https://www.acog.org/About-ACOG/News-Room/News-Releases/2016/Ob-Gyns-Release-Revised-Recommendations-on-Screening-and-Testing-for-Genetic-Disorders. Last accessed 22 October 2017. - Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. American College of Medical Genetics and Genomics. https://www.acmg.net/docs/NIPS_AOP.pdf. Last accessed on 16 October 2017
Disclaimer
No test is perfect. DNA test results do not provide a definitive genetic risk in all individuals. Cell-free DNA does not replace the accuracy and precision of prenatal diagnosis with CVS or amniocentesis. Patients with positive test result or an additional finding should be referred for genetic counselling and offered invasive prenatal diagnosis for confirmation of test results. A negative test result does not ensure an unaffected pregnancy. The absence of an additional finding does not indicate a negative result. While results of this testing is highly accurate, not all chromosomal abnormalities may be detected due to placental, maternal or fetal mosaicism, or other causes. The healthcare provider is responsible for the use of this information in the management of their patient.
NIPT is a screening, not a diagnostic test. Patients should opt for it only as an informed choice after appropriate pre-test counselling.