Non-Invasive Prenatal Test (NIPT)

The Non-Invasive Prenatal Test (NIPT) is a cutting-edge screening method that has become the first-line choice globally for detecting common chromosomal abnormalities and microdeletions in a fetus. Utilizing the cell-free DNA (cfDNA) present in the maternal blood, which originates from the placenta, NIPT offers a safer alternative to traditional invasive procedures. On average, approximately 10% of the cfDNA in the maternal bloodstream comes from the fetus, making NIPT a reliable method for early detection of potential genetic issues. This screening can be performed as early as 10 weeks into the pregnancy, providing crucial information at a stage when options for intervention are more available.

Conditions screened for

• All autosomal chromosomal abnormalities including trisomies 13, 18, 21

• All sex chromosomal abnormalities 

*This test does not reveal sex of the fetus in accordance with PCPNDT guidelines

Clinical Utility

• Early Detection: NIPT can be performed as early as 10 weeks into the pregnancy, allowing for the earlier identification of chromosomal abnormalities compared to traditional screening methods.
• Reduced Anxiety: By providing detailed information about the baby’s genetic health, NIPT can significantly reduce the anxiety and uncertainty that many expectant parents experience.
• Decreased Need for Invasive Testing: The accuracy of NIPT has led to a substantial reduction in the need for invasive tests, with a 94.8% reduction in such procedures and a 90.8% decrease in procedure-related miscarriages.
• High Accuracy: NIPT boasts a sensitivity and specificity rate of over 99%, making it one of the most reliable prenatal screening tools available.

When to Consider NIPT

NIPT is generally recommended for all pregnant women, regardless of age or risk factors. However, certain conditions make it particularly advisable:

• Abnormal Marker Tests: If other prenatal screening tests, such as the double, triple, or quadruple marker tests, suggest a risk of chromosomal abnormalities, NIPT can provide additional insights.
• Abnormal Ultrasound Findings: If an ultrasound reveals high nuchal translucency (NT) or an absent nasal bone, which are markers for chromosomal abnormalities, NIPT is recommended.
• Previous Pregnancy with a Trisomy: If there is a history of a prior pregnancy affected by a trisomy, NIPT can help assess the risk in subsequent pregnancies.
• Advanced Maternal Age: As maternal age increases, so does the risk of chromosomal abnormalities. NIPT is particularly useful for expectant mothers over the age of 35.

MapmyGenome Offerings

MapmyGenome provides a comprehensive NIPT service that is non-invasive, safe, and highly accurate. Our offerings include:

• Broad Screening Coverage: We screen for all major chromosomal abnormalities, including trisomies 13, 18, and 21, as well as sex chromosomal aneuploidies.
• High Detection and Low Failure Rates: Our NIPT offers a detection rate of over 99%, with a low failure rate, ensuring reliable results.
• Early and Safe Testing: Our NIPT can be conducted as early as 10 weeks, providing early insights without the risks associated with invasive procedures.
• Detailed Report: The results come with a comprehensive report that includes a detailed interpretation of the findings, helping healthcare providers and expectant parents make informed decisions.

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