What Is NICC/NIPT?

NICC and NIPT are terms used for non-invasive prenatal chromosome screening. The test uses a sample of the pregnant woman's blood to analyse cell-free DNA fragments, including fragments that mainly originate from the placenta and generally reflect the baby's chromosome profile.

Unlike invasive diagnostic procedures, a blood-based NIPT sample does not require a needle to enter the uterus. It is designed to assess the chance of selected chromosome conditions early in pregnancy.

Cell-free DNA screening is recognised in current professional guidance as a highly sensitive screening option for common fetal chromosome number conditions, particularly Trisomy 21, 18 and 13. However, screening accuracy and the conditions covered can vary by test, and no screening test detects every possible genetic or developmental condition.

1. Trisomy 21: Down Syndrome

Trisomy 21, commonly known as Down syndrome, occurs when a person has an extra copy of chromosome 21, either in all or some of their cells.

Down syndrome can affect physical development, learning and intellectual development. The level of support a person needs varies widely. Some people experience associated medical conditions, such as congenital heart defects, hearing or vision problems, thyroid conditions or digestive issues.

What does NIPT look for?

NIPT assesses whether the DNA pattern in the blood sample suggests an increased chance of Trisomy 21. It does not determine a child's future abilities, individual health needs or the full range of possible outcomes.

Why is Trisomy 21 included in screening?

Trisomy 21 is one of the most commonly screened-for fetal chromosome conditions. NIPT is a sensitive screening option for it, but a higher-risk result still needs appropriate follow-up rather than being treated as a confirmed diagnosis.

2. Trisomy 18: Edwards Syndrome

Trisomy 18, also called Edwards syndrome, occurs when there is an extra copy of chromosome 18 in all or some of the body's cells.

Trisomy 18 is often associated with significant developmental differences and multiple congenital abnormalities. These may involve the heart, brain, kidneys and other organs, as well as restricted growth. The effects and medical needs vary, but the condition is associated with a high risk of pregnancy loss and a high rate of serious health complications among babies born alive.

What does NIPT look for?

NIPT looks for a DNA pattern that may indicate an increased chance of Trisomy 18. It cannot show the full extent of any structural differences or predict an individual pregnancy's outcome.

Why are ultrasound and clinical follow-up important?

Ultrasound examinations can assess fetal growth and development and look for structural findings. If screening indicates a higher chance of Trisomy 18, a healthcare professional can explain the available diagnostic options and appropriate next steps.

3. Trisomy 13: Patau Syndrome

Trisomy 13, also known as Patau syndrome, occurs when there is an extra copy of chromosome 13 in all or some of the body's cells.

Trisomy 13 is associated with serious developmental differences and may involve the brain, heart, eyes, face and other organs. It can also affect growth and the development of the limbs. The condition is associated with a high risk of pregnancy loss and serious medical complications.

What does NIPT look for?

NIPT assesses whether the DNA pattern suggests an increased chance of Trisomy 13. It is a screening test and cannot confirm the condition or establish the extent of any medical complications.

What happens after a higher-risk result?

Your healthcare professional may recommend genetic counselling, detailed ultrasound assessment and discussion of diagnostic testing. The choice and timing of follow-up depend on the pregnancy, ultrasound findings and individual circumstances.

Trisomy 21 vs Trisomy 18 vs Trisomy 13: Key Differences

All three conditions involve an extra copy of a chromosome, but they are associated with different patterns of development and health concerns.

This comparison provides general information only. It cannot predict an individual baby's health, development or care needs.

What Does NICC/NIPT Not Screen For?

One of the most important things to understand before taking NIPT is that the test does not screen for every genetic condition, chromosome change or birth defect.

Depending on the specific test package, standard NIPT may not assess:

• All genetic conditions: Many single-gene conditions, inherited disorders and other genetic changes are not included in a standard NIPT panel.
• All chromosome abnormalities: The scope depends on the laboratory and test selected. A standard panel usually focuses on common trisomies.
• Structural birth defects: NIPT does not replace ultrasound scans that assess fetal anatomy and development.
• Neural tube defects: NIPT is not a substitute for the recommended screening and ultrasound assessments for these conditions.
• Every pregnancy complication: NIPT is not a general health check for the pregnant person or a comprehensive assessment of pregnancy wellbeing.

What Do Low-Risk and High-Risk NICC/NIPT Results Mean?

Understanding the difference between a screening result and a diagnosis can help reduce confusion when you receive your report.

What should you do after a high-risk result?

1. Discuss the report with your healthcare professional. Review which condition was screened and what the result means for your individual pregnancy.
2. Consider genetic counselling. Counselling can help explain the benefits, limitations and implications of further testing.
3. Discuss diagnostic testing. CVS or amniocentesis may be offered to confirm a chromosome condition. The appropriate procedure and timing depend on the clinical situation.
4. Continue appropriate antenatal assessment. Ultrasound and other recommended pregnancy assessments remain important regardless of the screening result.

Do not make major pregnancy decisions based solely on a screening result. A qualified healthcare professional can help you understand the findings and discuss appropriate next steps.

When Can You Do an NICC/NIPT Test?

Many NIPT tests can be performed from around 10 weeks of pregnancy. The appropriate timing depends on the specific test, the pregnancy and the healthcare provider's advice.

Timing matters because the test relies on cell-free DNA in the blood sample. If the amount of placental DNA is insufficient, the laboratory may not be able to issue a result. A healthcare professional can explain the timing requirements and what may happen if the result is inconclusive.

For more information, read our related guide: When to Do an NICC/NIPT Test? Why 10 Weeks Matters.

You can also learn more about the available screening service on our NICC/NIPT screening service page.

Considering NICC/NIPT Screening in Johor Bahru?

If you are pregnant and exploring prenatal chromosome screening in Johor Bahru, understanding what the test covers is a useful first step. Before proceeding, discuss your gestational age, pregnancy history, the conditions included in the selected test and the possible next steps for each type of result with your healthcare professional.

When comparing NICC/NIPT testing options, consider asking:

• Which chromosome conditions are included in the test package?
• From which week of pregnancy can the test be performed?
• How are low-risk, high-risk and inconclusive results explained?
• Who will discuss the results with me?
• What follow-up options are available if a result is high-risk or inconclusive?

For information about prenatal chromosome screening in Johor Bahru, visit Southern Health Screening's NICC/NIPT service page or browse the Southern Health Screening website.

Frequently Asked Questions About NICC/NIPT