While expectant mothers often focus on maintaining good health to prepare for childbirth and ensure their baby’s well-being, NIPT chromosome screening is also an important part of prenatal care. However, many mothers are still unfamiliar with what NIPT (Non-Invasive Prenatal Testing) actually is, why it's done, how effective it is, and whether it is suitable for every pregnant woman.
What Is NIPT? A Closer Look at Chromosome Screening During Pregnancy
NIPT (Non-Invasive Prenatal Testing) is a blood test performed on the mother to assess the risk of chromosomal abnormalities in the fetus. It analyzes the amount of DNA (specifically, cell-free DNA) present in the mother's blood using a technology called Massively Parallel Sequencing. In pregnant women carrying a baby with Down syndrome, an abnormal amount of cell-free DNA from chromosome 21 can be detected.
The effectiveness of NIPT in screening for Down syndrome is extremely high. It can detect Trisomy 21 (Down syndrome) in approximately 99% of cases, with a false positive rate of less than 1%. In comparison, other commonly used screening methods—such as nuchal translucency (NT) scan, combined test, triple test, and quadruple test—have detection rates ranging from only 60% to 85%.
Why Should You Get NIPT Chromosome Testing?
NIPT chromosome testing is an important consideration for those preparing for pregnancy.
NIPT (Non-Invasive Prenatal Testing) is a screening test used to detect potential chromosomal abnormalities in a fetus. It can assess the risk of Down syndrome and other significant chromosomal disorders. If the analysis indicates a high risk, doctors will usually recommend additional diagnostic tests, such as amniocentesis, to confirm the positive result found in the NIPT screening.
Advantages of NIPT Chromosome Testing
- In addition to commonly testing for abnormalities in chromosome 21, it can also screen for abnormalities in chromosomes 13, 18, and sex chromosomes.
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It is highly accurate, up to 99%, with a low false positive rate. This helps reduce unnecessary amniocentesis procedures for confirmation, making the pregnancy safer than other methods.
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It is simple and convenient, requiring only a blood draw from the mother, and results are available quickly.
NIPT: What Are Its Limitations?
However, NIPT also has certain limitations. It may not be suitable for individuals in the following situations:
- Mothers who have received a blood transfusion within the past year
- Mothers who have undergone holistic treatments involving animal stem cell or placental injections
- Mothers who have received immunotherapy treatments
- Mothers currently diagnosed with cancer
- Mothers with known chromosomal abnormalities
Which chromosomal disorders does NIPT help detect?
Screening for Down Syndrome (Trisomy 21)
NIPT can screen for Down syndrome, which is caused by the presence of an extra copy of chromosome 21. It is the most common chromosomal disorder. Affected babies typically have a small, flat head, upward slanting eyes, a flat nasal bridge, low-set ears, a small mouth with a protruding tongue, and may have a heart septal defect. They often experience developmental delays and typically have below-average IQ.
Screening for Edwards Syndrome (Trisomy 18)
NIPT can screen for Edwards syndrome, caused by an extra copy of chromosome 18. Affected babies may have a small head and jaw, low-set ears, cleft lip or palate, clenched hands or deformed fingers and toes, and defects in the heart, kidneys, lungs, and digestive system. Intellectual disability is severe, and most affected infants do not survive beyond the first year of life.
Screening for Patau Syndrome (Trisomy 13)
NIPT can detect Patau syndrome, which results from an extra copy of chromosome 13. Babies with this condition often have cleft lip and palate, small eyes, low-set ears, extra fingers or toes, deafness, and severe brain abnormalities. Most affected newborns survive only a few weeks after birth.
Sex Chromosome Aneuploidy and Fetal Sex Determination
NIPT can screen for abnormalities in the number of sex chromosomes and determine the fetal sex (XX for female, XY for male). In addition to identifying fetal gender, it can detect sex chromosome aneuploidies such as Turner syndrome (XO), Triple X syndrome (XXX), Klinefelter syndrome (XXY), and Jacob's syndrome (XYY). Early detection of these conditions allows for more comprehensive and effective medical planning and care.
Microdeletions
Microdeletion testing can identify chromosomal disorders caused by the loss of small segments of chromosomes. Conditions that can be detected include:
- DiGeorge syndrome (22q11.2 deletion)
- 1p36 deletion syndrome
- Prader-Willi syndrome / Angelman syndrome
- Cri-du-chat syndrome (5p deletion)
- Wolf-Hirschhorn syndrome (4p deletion)
Genome-Wide Aneuploidy Detection
Beyond the common trisomies (13, 18, 21) and sex chromosomes, NIPT can also screen for aneuploidies across the remaining 19 autosomal chromosome pairs. This genome-wide screening provides a broader overview of chromosomal abnormalities that may affect fetal development.
Types of NIPT Tests
NIFTY
NIFTY is a comprehensive chromosomal screening test that detects both full and partial chromosomal aneuploidies. It offers the widest coverage, screening for the largest number of chromosomal abnormalities and genetic syndromes. The sample is sent for analysis in Hong Kong.
- Price: 12,500–25,000 THB
- Package: 23 chromosomes + 84 genetic conditions
- Result time: 7–14 days
NGD NIPS
NGD NIPS (Non-Invasive Prenatal Screening) is a non-invasive prenatal test that poses no risk to the fetus, unlike procedures such as amniocentesis. It involves analyzing maternal blood and is processed within Thailand, making it the most affordable option.
- Price: 10,000 THB
- Package: 23 chromosomes
- Result time: 7–10 days
NICE
NICE is a non-invasive prenatal test that analyzes cell-free fetal DNA (cfDNA) found in maternal blood. It is a joint development between Diagnomics (USA) and EONE (South Korea).
- Price: 25,000 THB
- Package: 8 chromosomes + 8 genetic conditions
- Result time: 7–10 days
Panorama
Panorama is a highly accurate prenatal screening test (up to 99% accuracy for detecting Down syndrome) that detects chromosomal aneuploidies and DiGeorge syndrome. The sample is analyzed in the United States.
- Price: 20,000 THB
- Package: 5 chromosomes + 5 genetic conditions
- Result time: 10–14 days
THAI NIPT
THAI NIPT analyzes cell-free fetal DNA (cfDNA) from maternal blood to screen for common chromosomal abnormalities including trisomy 21 (Down syndrome), trisomy 18, trisomy 13, and sex chromosome aneuploidies. It can be done from 10 weeks of gestation. The test is processed within Thailand, and offers >99% accuracy for detecting trisomy 21.
- Price: 12,000 THB
- Package: 23 chromosomes
- Result time: 7–10 days
G-NIPT
G-NIPT screens for abnormalities across all 23 chromosome pairs that may severely affect fetal development or even result in fetal death. The test is conducted via maternal blood sampling and is certified by CPA Korea.
- Price: Not specified
- Package: 23 chromosomes + genetic conditions (number of conditions not specified)
- Result time: 5 days
Which Mothers Are Recommended to Take NIPT?
NIPT Testing Eligibility
NIPT testing is available for various pregnancy types, including natural pregnancies, twin pregnancies, pregnancies conceived through in vitro fertilization (IVF), and pregnancies from surrogacy.
- Pregnancy age of 10 weeks or more
- Mothers over 35 years of age, as they are at higher risk of having a fetus with chromosomal abnormalities, particularly Trisomy 21 (Down Syndrome). This condition can affect intellectual development, heart defects, and digestive system issues.
- Mothers who have abnormal ultrasound results, indicating a higher likelihood of chromosomal abnormalities in the fetus
- Mothers with a history of a previous pregnancy involving a trisomy genetic disorder
- Mothers with abnormal results from other Down syndrome screening tests, indicating a genetic abnormality in the fetus
- If the father or mother has Robertsonian translocation, increasing the risk for trisomy 13 or trisomy 21 in the fetus
Process of Chromosomal Testing
- Initial Interview with the Nurse
The nurse will first take the mother’s medical history. - Weight and Blood Pressure Measurement
The nurse will then take the mother's weight and measure her blood pressure. - Consultation with the Doctor
Afterward, the nurse will escort the mother to see the doctor. During the consultation, the doctor will review the medical history, such as any chronic conditions, antibiotics currently being used, any previous chromosomal abnormalities, and family history of genetic disorders. - Blood Test
A blood sample will be drawn and sent for NIPT testing to screen for potential chromosomal abnormalities. - Waiting for Results
The results will be available in approximately 10–14 days.
When Should NIPT Be Done During Pregnancy?
In fact, NIPT can be performed on almost every pregnant woman, and it can be done between 10 to 24 weeks of pregnancy. The most optimal time for the test is between 12 and 16 weeks.
NIPT Chromosomal Test Results
Low risk: The pregnancy test results indicate a very low risk of the fetus having chromosomal abnormalities for trisomy 21, 18, and 13.
High risk: The pregnancy test results indicate a higher risk of the fetus having chromosomal abnormalities for trisomy 21, 18, and 13. It is recommended to confirm the results with additional tests, such as amniocentesis.
No result: This is a rare occurrence where the fetal DNA in the maternal blood sample is insufficient for analysis. Additional blood tests may be required to obtain a clear result.
Frequently Asked Questions (FAQ)
How many days does it take to get NIPT results?
NIPT is a blood test, and the results typically take about 10–14 days to be ready.
Is there a chance that NIPT results could be inaccurate?
There is a possibility of an inaccurate result because NIPT is a screening test with high accuracy (99%), but it is not a diagnostic tool. Only amniocentesis can provide a 100% diagnosis regarding whether the fetus has chromosomal abnormalities.
Do I need to have an amniocentesis after NIPT testing?
If the NIPT result is Low risk, there is no need for further testing. However, if the result is High risk or No result, an amniocentesis is required for confirmation.
Conclusion
NIPT is a test to detect chromosomal abnormalities through a simple blood test from the mother. The process is straightforward and not complicated. It is suitable for pregnancies between 10 to 24 weeks and typically takes about 10–14 days to receive the results. For mothers who are close to 10 weeks of pregnancy and have concerns about potential abnormalities in their baby, you can consult with your doctor to request the NIPT test. Alternatively, if you are unable to visit the doctor in person, you can inquire further via Line: @beyondivf