Accurate. Safe. Reliable.
Ampath Diagnostic Guide | Pathology solutions are in our DNA
🧬 How Does NIPT Work?
During pregnancy, foetal DNA from the placenta circulates in the mother’s bloodstream.
With modern technology, we can now analyse this DNA to screen for specific chromosomal abnormalities.
These may include:
- Trisomy: three copies of a chromosome instead of two
- Monosomy: only one copy of a chromosome
Both may lead to:
- Miscarriage
- A genetic disorder
🧪 What Does the NIPT Test For?
- Screens for trisomies 13, 18, and 21
- Optional testing includes:
- Sex determination (male/female)
- Sex chromosome abnormalities
- Other chromosome abnormalities (if requested by your doctor)
👩🍼 Who Can Have the Test?
- Women with singleton or twin pregnancies
- From 10 weeks of pregnancy onwards
- Includes pregnancies via IVF using either the patient's or donor eggs
In twin pregnancies, only trisomies 13, 18, and 21 can be screened.
🚫 Who Should NOT Have the Test?
Avoid NIPT if you have:
- A current or recent malignancy (cancer)
- A bone marrow or organ transplant
- A recent blood transfusion
Also not suitable for:
- Triplets or higher-order multiple pregnancies
👵 Is There an Age Limit?
No — NIPT is available to all pregnant women, regardless of age or risk.
While chromosomal abnormalities are more common with increasing maternal age, they can occur at any age.
✅ Advantages of NIPT
- >99% detection rate for trisomy 21, 18, and 13
- Safe: requires only a maternal blood sample
- No risk to the baby
- Can be performed from 10 weeks gestation onward
- Results available within 7 working days
📃 Understanding Your Results
✅ No Anomaly Detected:
- Low chance of trisomy or chromosomal abnormality
- However, NIPT is a screening test — it doesn’t rule out:
- All birth defects
- All chromosomal or genetic abnormalities
❗ Anomaly Detected:
- Increased risk for the specific chromosome abnormality
- In twins: means at least one baby may be affected
- Further testing recommended:
- Amniocentesis or placental biopsy
- Referral for genetic counselling
⚠️ Limitations of the NIPT Test
- NIPT screens only for trisomies 13, 18, 21, and optionally sex chromosome abnormalities
- Cannot detect:
- All genetic or chromosomal conditions
- All birth defects
In Twin Pregnancies:
- Results cannot identify which baby is affected
- If a Y chromosome is found:
- At least one baby is male, but gender for each baby is unknown
Other Considerations:
- In rare cases, test results may reflect:
- Placental DNA only (not the foetus)
- Maternal DNA abnormalities
- If results are inconclusive:
- Repeat testing or invasive diagnosis may be required
- Sometimes, low foetal DNA levels (low foetal fraction) result in no reportable result
💳 Medical Aid Cover
- May be partially or fully covered, based on medical necessity
- Often requires:
- Doctor’s motivation letter
- Pre-authorisation
- Some schemes may cover it via:
- Medical savings
- Out-of-pocket (upfront) payment
Contact your medical aid to confirm if it’s included in your maternity benefit.
🧭 Have More Questions?
- Speak to your doctor, or contact our NGS Lab:
📞 012 678 0645
📧 nipt@ampath.co.za
📱 Get Your Results on the Ampath App
- Easy access to results via the Ampath App
- Some results may only appear after your doctor’s consultation