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Article Summary
The moment pregnancy is confirmed, it is natural to be concerned about the baby’s health. The increasingly recognized “NIPT (Non-Invasive Prenatal Testing)” allows highly accurate screening for chromosomal abnormalities in the fetus without burdening the mother. This article explains how NIPT works, the testing process, important considerations, and the latest evidence-based updates, offering comprehensive information for expectant mothers and obstetric professionals.
Why NIPT Is Considered Safe
NIPT (Non-Invasive Prenatal Testing) has become one of the most popular prenatal screening methods in recent years.
One major reason is its high level of safety for both the mother and the baby, combined with its exceptional accuracy.
1. A “Non-Invasive” Test Completed with Just a Blood Draw
NIPT only requires drawing blood from the mother’s arm, just like a standard health check.
There’s no need to insert a needle near the baby or touch the uterus, which means:
- Almost no risk of miscarriage
- Minimal physical strain
Little to no pain or discomfort
2. Extremely High Accuracy
NIPT analyzes cell-free fetal DNA (cfDNA) in the mother’s blood with high precision.
For the following three chromosomal abnormalities, studies report a detection rate exceeding 99%:
- Down syndrome (Trisomy 21)
- Edwards syndrome (Trisomy 18)
- Patau syndrome (Trisomy 13)
In addition, the positive predictive value (the probability that a positive result actually indicates an abnormality) is very high. Compared to traditional maternal serum marker screening, the risk of false positives or false negatives is significantly lower.
3. Available From Early Pregnancy
While most clinics perform NIPT after 10 weeks of pregnancy, Hiro Clinic offers early testing starting from 6 weeks, once pregnancy is confirmed by ultrasound.
Getting early insight into the baby’s health allows more time for preparation and informed decision-making.
4. Comprehensive Medical Support After Results
NIPT is a screening test, not a diagnostic one. If the result is positive, confirmatory testing such as amniocentesis is recommended.
At Hiro Clinic, doctors handle the entire follow-up process, including:
- Explaining test results
- Reporting the positive predictive value
- Referring patients to appropriate medical facilities if needed
This end-to-end support ensures patients are not left alone after receiving their results.
5. Comprehensive Medical Support After Results
NIPT is a screening test, not a diagnostic one. If the result is positive, confirmatory testing such as amniocentesis is recommended.
At Hiro Clinic, doctors handle the entire follow-up process, including:
- Explaining test results
- Reporting the positive predictive value
- Referring patients to appropriate medical facilities if needed
This end-to-end support ensures patients are not left alone after receiving their results.
What NIPT (Non-Invasive Prenatal Testing) Is
NIPT, also known as Non-Invasive Prenatal Genetic Testing, is a safe prenatal screening method performed with a simple blood draw from the mother.
The procedure is the same as a standard blood test, meaning there is no direct impact or risk to the baby.
Screening Chromosomal Abnormalities Through Fetal DNA
During pregnancy, fragments of the baby’s DNA circulate in the mother’s bloodstream.
NIPT analyzes these fragments to assess the likelihood of chromosomal abnormalities with high accuracy.
The basic test screens for these three major conditions:
- Down syndrome (Trisomy 21): Associated with intellectual disability and developmental delays
- Edwards syndrome (Trisomy 18): Often life-limiting early in infancy
- Patau syndrome (Trisomy 13): Often life-limiting early in infancy
Depending on the testing plan, NIPT can also detect:
- Fetal sex
- Sex chromosome abnormalities (e.g., Klinefelter syndrome), which are more common than Down syndrome
- Microdeletion syndromes associated with intellectual disabilities (e.g., 22q11.2 deletion syndrome), which are particularly important after Down syndrome screening
Early Testing Available at Hiro Clinic
While most facilities begin testing at 10–11 weeks, Hiro Clinic can perform NIPT from 6 weeks (after pregnancy confirmation via ultrasound).
This allows families to learn about the baby’s condition earlier, providing more time for preparation and peace of mind.
NIPT Is a Screening Test
NIPT is a non-diagnostic screening. Results are reported as either “positive” or “negative.”
If the result is positive, further confirmatory testing such as amniocentesis or chorionic villus sampling (CVS) is required.
NIPT Is Not Covered by Insurance
NIPT is a self-paid service in Japan.
The cost, eligibility, and details vary by medical facility, so it’s important to confirm these factors in advance.
Key Features and Benefits of NIPT
Non-invasive and safe
Performed with a simple blood draw, eliminating the risk of miscarriage and minimizing burden on both the mother and baby.
High accuracy
Detection rates for chromosomal abnormalities exceed 99%, making it one of the most precise screening methods available.
Early availability
Testing can start from 10 weeks of pregnancy, allowing early insights into the baby’s health.
Reduced psychological stress
Accurate results help alleviate anxiety and allow mothers to spend their pregnancy with greater peace of mind.
Who Should Consider NIPT
NIPT is available to all pregnant women, but it is especially recommended for:
- Advanced maternal age (35 years and older): The risk of chromosomal abnormalities increases with age.
- History of chromosomal abnormalities in previous pregnancies: Family history or previous pregnancy history increases the importance of early risk evaluation.
High-risk results from other screenings: If other tests such as fetal ultrasounds or serum markers suggest elevated risk, NIPT is a logical next step.
Important Considerations When Undergoing NIPT
- Not a diagnostic test
A positive NIPT result requires confirmatory testing, such as amniocentesis or CVS, to establish a definitive diagnosis. - Limited scope
NIPT primarily screens for Trisomy 21, 18, and 13. It cannot detect all chromosomal or single-gene disorders. - Choose an accredited facility
Testing at a certified facility is recommended, as accredited clinics provide pre-test genetic counseling and deliver more reliable results.
Cost
As a self-paid service, NIPT typically costs 150,000–200,000 yen (approximately $1,000–$1,400 USD).
Comparison: NIPT vs. Other Prenatal Tests
| Aspect | NIPT | Fetal Ultrasound (Fetal Screening) | Amniocentesis |
| Timing | From 10 weeks onward | 11–22 weeks (multiple sessions possible) | 16–20 weeks |
| Method | Maternal blood draw | Ultrasound observation | Amniotic fluid extraction |
| Conditions Detected | Trisomy 21, 18, 13 | Structural abnormalities, growth restriction risks | Comprehensive chromosomal confirmation |
| Safety | Non-invasive and safe | Non-invasive and safe | Small miscarriage risk (0.1–0.3%) |
| Accuracy | Very high | Limited by visual inspection | Extremely reliable for diagnosis |
Summary
NIPT is an innovative prenatal screening method that allows for high-accuracy evaluation of fetal health without putting stress on the mother or baby.
It is non-invasive, safe, and reliable, making it a trusted option for many pregnant women.
However, NIPT is a screening test, not a diagnostic one. Positive results should always be followed up with confirmatory testing and genetic counseling.
For the best experience and most reliable results, it is recommended to undergo testing with an accredited facility and consult with experienced medical professionals.
