Choose DIAG’s NIPT - Your Baby’s Health, Your Peace of Mind

Screen for 100+ chromosomal abnormalities like Down, Edwards, Patau syndromes & more
Highly accurate - up to 99.9%
100% safe for both mother and fetus
Early testing - from the 10th week
Fast results - after 7 days
Non-invasive, quick and painless
No fasting required

NIPT (Non-Invasive Prenatal Testing) is a highly accurate screening test that analyzes cell-free fetal DNA (cff-DNA) derived from the placenta and circulating in the maternal blood to assess the risk of certain chromosomal abnormalities in the fetus.

This method is highly recommended by medical experts for its effectiveness in screening chromosomal abnormalities as early as the 10th week of gestation ensuring absolute safety for both the mother and the fetus.

NIPT offers an accuracy rate of up to 99.9%, providing comprehensive screening for over 100 genetic conditions related to chromosomal abnormalities, including aneuploidies and selected microdeletions/microduplications, across all 23 chromosome pairs.

DIAG's NIPT panels screen for:
- Three common Trisomy syndromes: Trisomy 21 (Down Syndrome), Trisomy 18 (Edwards Syndrome), and Trisomy 13 (Patau Syndrome).
- Four sex chromosome aneuploidies: Turner Syndrome (XO), Triple X Syndrome (XXX), Klinefelter Syndrome (XXY), and Jacob's Syndrome (XYY).
- Other autosomal aneuploidies.
- Microdeletions/Microduplications (92 Types).

DIAG's NIPT utilizes the DNBSEQ™ sequencing technology, which combines the advantages from low amplification error rates from DNA nanoballs (DNBs) and high-density patterned arrays. These advantages dramatically improve the sequencing accuracy.

NIPT is a screening test, not a diagnostic test. In cases of high-risk NIPT results, post-test genetic counseling is advised, and confirmatory diagnostic testing is recommended.

Pregnant women of any age (especially those aged 35 and above)
Pregnant women at increased risk for chromosomal abnormalities
Pregnant women with a history of recurrent miscarriage, stillbirth, or preterm labor
Pregnant women with a history of fetal delivery with chromosomal abnormalities
Pregnant women with a family history of chromosomal abnormalities
Contraindications for invasive prenatal testing (e.g., threatened abortion, tendency of bleeding, fever, chronic active infection …etc.)
Pregnant women with abnormal ultrasound
Pregnant women with high-risk value in the traditional biochemical-based screening methods (e.g., Double Test, Triple Test)
Pregnant women who have missed the best time for the traditional biochemical-based screening methods (e.g., Double and Triple tests)
Pregnant women working in hazards environments with exposure to chemicals
Pregnant women with singleton or twin pregnancies
Pregnancy following IVF or IUI

Chromosome 13

Trisomy 13, also known as Patau syndrome, happens when there's an extra copy of chromosome 13. This extra chromosome causes severe health issues. People with Patau syndrome may have intellectual disabilities, delays in development, and physical abnormalities such as cleft lip and palate and extra fingers or toes. They also often have heart defects. Many babies with Patau syndrome don't live past the first days or weeks.

Chromosome 18

Trisomy 18, also called Edwards syndrome, occurs when there's an extra copy of chromosome 18. This leads to serious health and development problems. Babies with this condition often have a low birth weight and a small head size. They may also have birth defects in their heart and other organs. Structural anomalies can also include a clenched hand with overlapping fingers, malformed feet, and a small jaw. If the tests show a high chance of Trisomy 18, it's important to talk to a doctor or genetic counselor. They can explain what it means and help you decide what's best for you and your baby.While Trisomy 18 is a serious condition, knowing about it early on can help you make informed decisions and get the support you need during your pregnancy. Unfortunately, these complex health challenges often result in life-threatening complications for many affected infants

Chromosome 21

Trisomy 21, also called Down syndrome, happens when there is an extra third copy of chromosome 21. This extra chromosome changes a person's development both in how they look and learn. People with Down syndrome have distinct facial features, a level of intellectual disability, and learn more slowly. They can also have heart conditions and other health issues. Down syndrome affects about 1 in 700 live births worldwide. The risk is higher for babies born to mothers over 35, but many babies with Down syndrome are born to younger mothers.

Turner syndrome (XO)

Turner syndrome (XO), a rare genetic disorder affecting females, occurs when one of the two X chromosomes is missing or partially missing. This missing genetic material can lead to a variety of physical and developmental challenges, although the severity and specific symptoms can vary significantly among individuals. Common features of Turner syndrome include short stature, which often becomes noticeable by age 5, and underdeveloped ovaries, leading to infertility and the absence of menstrual periods. Other potential health concerns associated with Turner syndrome may include heart defects, kidney problems, hearing loss, and learning difficulties. Despite these challenges, early diagnosis and appropriate medical management can significantly improve the quality of life for individuals with Turner syndrome. Hormone therapy can help address growth and development issues, while other interventions may be necessary to manage specific health concerns. With proper care and support, girls and women with Turner syndrome can lead healthy, fulfilling lives. Advances in medical research and treatment continue to offer hope and improved outcomes for those affected by this condition.

Triple X Syndrome

Triple X syndrome, also known as 47,XXX, happens when a female has an extra X chromosome. Typically, females have two X chromosomes, but in Triple X syndrome, they have three. This extra chromosome often doesn't cause visible symptoms, and many females with this condition might not even know they have it. Some may be taller than average and might face challenges with learning, especially in reading and math. Fertility issues and early menopause are other possible effects, but many with Triple X syndrome lead healthy lives.

Klinefelter Syndrome

Klinefelter syndrome, also referred to as 47, XXY, occurs when a male has an extra X chromosome. Normally, males have one X and one Y chromosome, but in Klinefelter syndrome, they have two Xs and one Y. This extra X chromosome can lead to symptoms that might not always be obvious. Some males with Klinefelter syndrome might have taller stature, less muscle strength, and less facial and body hair. They may also experience challenges with learning and speech. Additionally, the syndrome can affect fertility, often making it difficult for affected individuals to have children naturally. Klinefelter syndrome can be identified through genetic testing.

Jacobs Syndrome

Jacobs Syndrome, also known as 47, XYY, occurs when a male has an extra Y chromosome. Typically, males have one X and one Y chromosome, but in Jacobs Syndrome, they have one X chromosome and two Y chromosomes. This extra Y chromosome usually doesn't cause any obvious symptoms and many males with this condition might not even be aware they have it. Some individuals with Jacobs Syndrome might be taller than average and could face some challenges with speech and learning. It is important to note, most men with this condition lead normal, healthy lives.

chromosomes 1-12, 14-17, 19-20, and 22

When there are issues with chromosomes 1-12, 14-17, 19-20, and 22, it means the body's genetic blueprint isn't quite following the standard layout. Chromosomes carry our genetic information, and when one of them has a glitch, it can affect how the body grows and works. These abnormalities can lead to a variety of health conditions, depending on which chromosome and what part of it is involved. Each chromosome-related condition has its own set of symptoms and impacts on health, ranging from developmental delays to more specific physical health issues. Getting this information early helps parents and healthcare professionals plan for any special care or treatment the baby might need from the moment they're born, aiming to support the best possible health outcomes.

92 microdeletion / microduplication syndromes

The 92 syndromes of gene deletion and duplication commonly impact health, affecting intellectual and behavioral development as well as various organ systems, including the cardiovascular, digestive, and nervous systems. These syndromes are often accompanied by symptoms such as developmental disorders, congenital abnormalities, immune deficiencies, and neurological disorders.

Carrier Screening 10 test

The Carrier Screening 10 test refers to a genetic test that screens for the carrier status of 10 specific genetic conditions, including: 1. Alpha Thalassemia 2. Beta Thalassemia 3. Galactosemia 4. Phenylketonuria (PKU) 5. G6PD Deficiency 6. Citrin Deficiency 7. Steroid 5-alpha-reductase Deficiency 8. Glycogen Storage Disease Type II (Pompe) 9. Wilson Disease 10. Fabry Disease This test allows the individuals to understand their risk of passing on these conditions to their children if they are carriers, usually done before or during pregnancy. The test can be done for husband and wife. No ultrasound needed to carry out the test.

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Frequently Asked Questions

1. How long does it take to get NIPT test results at DIAG?

If DIAG's lab receives the sample before 10:00 AM (Mon & Thu), test results will be available by 10:00 AM four days later.
If DIAG's lab receives the sample after 10:00 AM (Mon - Thu), test results will be available by 10:00 AM seven days later.

2. What should be prepared before taking the NIPT test?

Pregnant women need to bring their most recent ultrasound results to DIAG for consultation before the test. There are no specific timing requirements for NIPT.

3. How is the NIPT procedure performed at DIAG?

The NIPT test at DIAG is conducted through 7 steps:
- Step 1: Consultation with doctors & Completion of Consent Form
- Step 2: Blood sample collection & Transport to the laboratory
- Step 3: Sample reception & Processing
- Step 4: Whole Genome Sequencing with DNBSEQ™ Technology
- Step 5: Bioinformatics analysis using HALOS software
- Step 6: Results Delivery via Zalo/SMS/Website
- Step 7: Genetic Counseling

You can learn more about the 7-step NIPT procedure here: https://diag.vn/en/pregnancy/nipt-procedure-at-diag-medical-center/

4. What are the advantages of NIPT compared to traditional prenatal screening tests?

NIPT has a higher accuracy rate compared to other prenatal screening methods (such as the Double Test, Triple Test).
- Over 99% – Superior detection accuracy.
- Only 0.1% – Extremely low false-positive rate.
- Early detection from the 10th week of Pregnancy.
- Comprehensive screening for over 100 chromosomal abnormalities.
- Single blood sample - No need for additional Karyotyping.
- Non-invasive and Safer than invasive procedures.

You can learn more about the Advantages of NIPT compared to other traditional prenatal screening methods here: https://diag.vn/en/pregnancy/what-is-nipt-advantages-of-nipt-over-traditional-prenatal-screening/

5. What is the NIFTY® technology utilized in NIPT testing?

The NIFTY® technology, developed by BGI Genomics, has been validated through the largest global research study, with over 146,000 test samples from more than 500 medical centers. The research results show that NIPT testing using NIFTY® technology has an extremely low false positive rate of less than 0.05%.

Currently, NIFTY® enhances the ability to detect over 100 chromosomal abnormalities, including chromosomal number abnormalities and various microdeletions/duplications.

You can learn more about NIFTY® technology in NIPT testing here: https://diag.vn/en/pregnancy/nipt-with-nifty-technology-at-diag-an-advanced-prenatal-screening-solution/

6. Can NIPT detect all genetic disorders?

No. NIPT cannot detect all genetic disorders (including inherited diseases or congenital defects). NIPT can only screen for certain specific conditions related to chromosomal abnormalities.

7. Which numerical chromosomal abnormalities can NIPT detect?

NIPT helps detect many numerical chromosomal abnormalities (aneuploidy), including:

- Down Syndrome: caused by the presence of three copies of chromosome 21.
- Edwards Syndrome: caused by an extra copy of chromosome 18.
- Patau Syndrome: caused by the presence of three copies of chromosome 13.
- Turner Syndrome: only affects females and occurs when they have only one X chromosome.
- Jacobs Syndrome: affects males and occurs when they have an extra Y chromosome.
- Klinefelter Syndrome: only affects males and occurs when they have an extra X chromosome.
- Triple X Syndrome: affects females, occurring when they have three X chromosomes.
- Severe variants of Klinefelter Syndrome: occur when males inherit more than two X chromosomes.

You can refer to the List of numerical chromosomal abnormalities that may occur in the fetus here: https://diag.vn/en/pregnancy/chromosomal-abnormalities/

8. Which structural chromosomal abnormalities can NIPT detect?

NIPT can early detect over 90 structural chromosomal abnormalities, including syndromes caused by chromosomal deletions or duplications.
- 1p36 Deletion Syndrome
- 4p16.3 Deletion Syndrome
- Cri-du-Chat Syndrome
- 7q11.23 Deletion Syndrome
- Prader-Willi Syndrome
- Angelman Syndrome
- Smith-Magenis Syndrome
- DiGeorge Syndrome

9. Why should NIPT and Preeclampsia screening be performed simultaneously?

In addition to chromosomal abnormalities, preeclampsia is one of the leading causes of illness and death for both mothers and newborns. According to official statistics and scientific reports, approximately 76,000 maternal deaths and over 500,000 neonatal deaths occur annually worldwide due to preeclampsia.

Therefore, it is particularly important to perform both NIPT and preeclampsia tests simultaneously. This aids in early detection of risks that can seriously affect the mother's health and ensures the healthy development of the fetus.

10. Can I opt for a Double Test or Triple Test instead of NIPT?

Double Test and Triple Test are suitable alternatives in case NIPT is not required or affordable. Diag offers fetal defect screening services at the following prices:
Double Test: 384,000 VND
Triple Test: 450,000 VND

11. Amniocentesis or NIPT: Which is an ideal option?

Experts recommend that pregnant women undergo NIPT. To determine if NIPT is suitable for you, you should consider the following 4 factors:
100% safe: NIPT is asbolutely safe for both the mother and the fetus. Unlike amniocentesis, NIPT does not pose risks such as miscarriage, stillbirth, preterm birth, vaginal bleeding, or infection.
Highly accurate: NIPT has high accuracy up to 99.9% but is only a screening test. However, as it is a screening test, confirmatory diagnosis through amniocentesis is necessary if a high risk of abnormalities is detected.
Fast results: NIPT results are available within 5 working days, whereas amniocentesis takes 10 to 14 days.
Cost-effective: DIAG’s NIPT Panels range from 1,500,000 to 7,500,000 VND, whereas amniocentesis costs 10,000,000 VND or more.

12. Could low-risk NIPT results bring up any concerns?

A low-risk NIPT result means that the likelihood of the fetus having chromosomal abnormalities is very low. However, a low-risk result does not guarantee that the fetus will not have chromosomal abnormalities. Therefore, it is important to attend regular prenatal check-ups and undergo additional tests as advised by doctors.

13. What should be done if the NIPT result shows high risk?

If the NIPT result indicates a high risk for a chromosomal abnormality, it does not mean that the fetus will definitely have that chromosomal abnormality.

NIPT is a screening test, not a diagnostic test. Therefore, you should consult with a doctor to undergo further diagnostic steps for more detailed evaluation, such as amniocentesis or chorionic villus sampling.

14. What are the preventive measures for numerical chromosomal abnormalities?

Currently, there is no method to completely eliminate the risks that cause chromosomal number abnormalities. However, medical experts recommend that women planning to conceive should undergo preconception health check-ups, maintain a healthy lifestyle, and consult with a genetic specialist if there is a family history of genetic disorders or if they have risk factors.

15. What is the NIPT post-testing financial support policy at DIAG?

DIAG provides financial support of up to 4.5 million VND for pregnant women with "high risk" or "detected" NIPT results. Pregnant women with "low risk," "not detected" or "no result" NIPT results are also eligible for financial support under DIAG's specific policy.

Choose DIAG’s NIPT - Your Baby’s Health, Your Peace of Mind

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