Non-invasive Prenatal Testing

What is the NIPT?

Non-Invasive Prenatal Testing (NIPT) is a screening test that analyzes cell-free DNA present in the mother’s blood to assess whether the baby has a high or low chance of certain chromosomal conditions:

• Trisomy 21 (Down syndrome)
• Trisomy 18 (Edwards syndrome)
• Trisomy 13 (Patau syndrome)

NIPT identifies approximately 99% of cases of these trisomies but cannot detect all affected babies.

How is the NIPT performed?

1. A small blood sample is taken from the mother’s arm by a trained medical professional.
2. The process is quick and may cause minor discomfort. Occasionally, there may be slight bruising.
3. The blood sample is analyzed to detect cell-free DNA from the placenta.

When Can I Expect the NIPT Results?

• Results are typically available within 3-5 business days.

What Do the NIPT Results Show?

1. High Chance Result:

   • Indicates a higher probability of the baby having trisomy 21, 18, or 13.
   • A high chance does not confirm the baby has one of these conditions. To confirm, further diagnostic tests like CVS (Chorionic Villus Sampling) or amniocentesis are recommended.

2. Low Chance Result:

   • Indicates a low likelihood (less than 1 in 10,000) of the baby having trisomy 21, 18, or 13.
   • This suggests the baby is unlikely to have these conditions.

Do I Need Any Other Tests?

NIPT does not provide information on:

• Rare chromosomal abnormalities.
• Physical defects, such as heart abnormalities, brain defects, spina bifida, or fetal growth issues.

It is recommended to have the following scans alongside NIPT:

• 11-13 weeks: Nuchal translucency scan to check for chromosomal and structural abnormalities.
• 20-22 weeks: Anomaly scan to examine fetal anatomy.
• 30-32 weeks: Growth scan to monitor fetal development.

If major defects (e.g., heart abnormalities or high nuchal translucency) are detected during ultrasound, diagnostic tests like CVS or amniocentesis may be necessary.