NIPT is a crucial screening test that assesses the risk of genetic disorders in the fetus. But what exactly is NIPT, and what makes it special? How accurate is this test? Let’s find out the answers with Diag in the article below.

What is NIPT?

NIPT (Non-Invasive Prenatal Test) is a screening test that assesses the risk of certain genetic disorders or congenital abnormalities in the fetus by analyzing cell-free fetal DNA (cffDNA) from the placenta present in the mother’s blood. As a non-invasive method, NIPT is completely safe and has no adverse effects on the health of both the mother and the fetus.

Currently, NIPT is one of the most trusted prenatal screening tests recommended by medical experts. This test is especially valuable for detecting over 100 types of congenital abnormalities and is widely used worldwide, including Vietnam.

Related Test
NIPT test package
Pregnancy test package

What makes NIPT special?

NIPT significantly improves the effectiveness of detecting congenital abnormalities compared to Double Test and Triple Test, especially in terms of the range of detectable conditions.

NIPT involves multiple advanced steps, from isolating cell-free fetal DNA (cffDNA) from maternal blood to enriching the cell-free fetal DNA fraction (FF%) and performing whole-genome sequencing with cutting-edge DNBSEQ™ technology. This process is followed by bioinformatics algorithms to assess chromosomal abnormalities, including Down syndrome, Edwards syndrome, Patau syndrome, etc. and other genetic disorders.

NIPT utilizes a proprietary algorithm to independently analyze copy number variations (CNVs), thereby improving detection performance for these CNVs. This advancement enables the identification of high-risk genetic disorders such as DiGeorge syndrome (22q11.2 deletion), Prader-Willi / Angelman syndrome, or other syndromes related to abnormal copy number variations of critical gene regions.

NIPT aids in assessing the risk of congenital abnormalities in the fetus.
NIPT aids in assessing the risk of congenital abnormalities in the fetus.

Is NIPT accurate?

NIPT offers exceptionally high sensitivity and specificity of over 99%, resulting in an overall accuracy rate of up to 99.9%, particularly in detecting common chromosomal abnormalities such as Down syndrome, Edwards syndrome and Patau syndrome.

By leveraging advanced technologies including the MGISP automated platform, DNBSEQ gene sequencing system and HALOS bioinformatics analysis software, NIPT can detect a wide range of genetic abnormalities in the fetus, including rare genetic disorders such as:

  • DiGeorge syndrome (associated with chromosome 22q11.2).
  • 1p36 deletion syndrome (associated with chromosome 1p36).
  • Wolf-Hirschhorn syndrome (associated with chromosome 4p16.3).
  • Cri-du-Chat syndrome (associated with chromosome 5p15.2).
  • Prader-Willi / Angelman syndrome (associated with chromosome 15q11-q13).
  • Noonan syndrome (caused by mutations in genes such as PTPN11, SOS1, RAF1, etc.).
  • Achondroplasia (caused by mutations in the FGFR3 gene).
  • Marfan syndrome (caused by mutations in the FBN1 gene).

Although NIPT has a very high accuracy rate of up to 99.9%, its results still depend on several factors. These include gestational age, maternal weight, the health status of both the mother and the fetus. Abnormalities in these factors can alter the concentration and quality of cell-free fetal DNA (cffDNA), potentially leading to inaccurate test results.

Therefore, NIPT is typically recommended for pregnant women from the 10th week of gestation, as the concentration of cffDNA in maternal blood reaches a minimum threshold of 4% (at the 10th week), ensuring high test accuracy.

However, it is important to note that NIPT is only a prenatal screening test, designed to identify potential abnormalities if present. This test does not provide a final diagnosis of genetic disorders in the fetus.

Consequently, if the NIPT results indicate a high risk, doctors will recommend further invasive diagnostic methods for confirmation, such as amniocentesis or chorionic villus sampling (CVS).

NIPT has high accuracy up to 99.9%.
NIPT has high accuracy up to 99.9%.

Who needs to underdo NIPT? 

NIPT is recommended from the 10th week of pregnancy. According to healthcare experts, the following pregnant women should undergo NIPT:

  • All pregnant women.
  • Pregnant women aged 35 or older.
  • Pregnant women with gestational diabetes or those taking medications harmful to the fetus.
  • Pregnant women with a history of miscarriage, stillbirth, or preterm birth.
  • Pregnant women who have previously given birth to a child with congenital abnormalities.
  • Pregnant women with a family history of genetic disorders.
  • Pregnant women with abnormal Double Test or Triple Test results from moderate to high risk.
  • Pregnant women whose ultrasound results indicate fetal abnormalities.
  • Pregnant women working in hazardous environments exposed to chemicals or radiation.
NIPT detects a wider range of fetal abnormalities than Double Test and Triple Test.
NIPT detects a wider range of fetal abnormalities than Double Test and Triple Test.

NIPT testing procedure

Step 1: Pre-test counseling

You will receive a detailed consultation fefore the NIPT is performed, covering an overview of the NIPT procedure, benefits of detecting genetic abnormalities early and important notes to consider before providing the sample.

There are no dietary restrictions before the test. You can eat, drink and continue your daily activities as usual before sample collection.

Step 2: Sampling

A blood sample will be drawn from a vein in your arm. Technicians use a vacuum blood collection technique to obtain a sufficient sample for testing. The sample then will be carefully preserved under strict standards to prevent contamination and ensure accuracy.

Step 3: NIPT testing

The maternal blood sample is isolated cell-free fetal DNA (cffDNA). The extracted DNA is then processed through multiple specialized steps using automated systems and sequenced to analyze the risk of chromosomal abnormalities in the fetus.

Step 4: Returning results and Counseling

This is a critical step in helping you and your family understand the fetal health status. NIPT results typically indicate one of the three outcomes: high risk, low risk, or uncertain/indeterminate result.

  • High risk: Indicates a high likelihood of genetic abnormalities. The report usually notes “Positive” or “High Risk.”
  • Low risk: Indicates no abnormalities detected, suggesting a healthy fetus. The report usually states “Negative,” “Low Risk,” or “No Aneuploidy Detected.”
  • Uncertain/Indeterminate result: In some cases, the test may not determine the risk of congenital abnormalities.

After receiving the NIPT results, you will be provided with detailed counseling regarding the potential risks of congenital abnormalities.

If the result is low risk: You will be advised to continue with regular prenatal check-ups throughout the pregnancy.

If the result indicates abnormalities: You will receive specialized counseling and be referred to a genetics or maternal-fetal medicine specialist for further evaluation and appropriate care planning.

Choose Diag for fast and accurate NIPT results

Diag is currently one of the leading medical clinics offering NIPT using the latest technology. At Diag, you will not only receive expert consultation and swift testing services but also experience high-quality healthcare with dedicated and attentive care.

In addition, Diag ensures fast results, typically within one week, with results delivered directly through your registered website account or Zalo messages. This timely service helps ease your concerns and gives you greater peace of mind regarding your baby’s health.

If you need to schedule an NIPT test, please contact the Diag team through the following channels for the earliest support: