A Safe Approach to Your Baby’s Genetic Health
The Non-Invasive Prenatal Test (NIPT) is one of the most advanced and widely preferred genetic screening tests in recent years. It can be performed from the 10th week of pregnancy using a simple blood sample taken from the mother.
Through this test, fragments of the baby’s DNA circulating in the mother’s blood are analyzed to assess the risk of certain chromosomal abnormalities with high accuracy.
What Does NIPT Detect?
The NIPT test screens for risks related to the following chromosomal conditions:
- Down Syndrome (Trisomy 21)
- Edwards Syndrome (Trisomy 18)
- Patau Syndrome (Trisomy 13)
- Sex chromosome abnormalities (such as Turner Syndrome, Klinefelter Syndrome, etc.)
- Some advanced test panels also include microdeletion syndromes (such as DiGeorge, Prader-Willi, and others).
Who Is NIPT Recommended For?
Although NIPT can be performed on all pregnant women, it is particularly recommended for:
- Expectant mothers aged 35 and above
- Those with a history of chromosomal abnormalities in previous pregnancies
- Pregnancies with high-risk results from first- or second-trimester screening tests
- Women who prefer non-invasive testing but want detailed genetic information
- Multiple pregnancies, where standard screening tests may be limited
What Are the Advantages?
- High accuracy — detects Down Syndrome risk with up to 99% sensitivity
- Completely non-invasive — poses no risk to the baby
- Can be performed early in pregnancy (from week 10 onward)
- Helps avoid unnecessary invasive procedures such as amniocentesis
Important to Remember
NIPT is a screening test, not a diagnostic test.
If the result is positive or indicates high risk, diagnostic tests such as chorionic villus sampling (CVS) or amniocentesis are recommended to confirm the diagnosis.
How Is the NIPT Process Managed at Our Clinic?
Before performing the NIPT, we conduct a comprehensive medical assessment and review all existing test results to select the most suitable test panel.
A blood sample is then collected and sent to a specialized genetics laboratory. Results are typically available within 5–7 business days.
Throughout the entire process, our specialist obstetricians provide medical oversight and discuss the findings in detail with each patient.
If you’re seeking scientific and reliable answers to your most important pregnancy-related questions, contact us to schedule your NIPT consultation — and take the first step toward peace of mind for you and your baby.
Frequently Asked Questions
The Evolution of Fetal Chromosomal Abnormality Screening – Non-Invasive Prenatal Testing (NIPT)
Chromosomal abnormalities account for approximately 15% of congenital (birth) defects diagnosed in Europe during the first year of life and are associated with about 25% of perinatal (before and shortly after birth) deaths.
According to the EUROCAT (European Surveillance of Congenital Anomalies) database, in 2004, one in four early neonatal deaths in the European Union was due to congenital anomalies, 18% of which were chromosomal.
The most common chromosomal abnormalities include Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), Trisomy 13 (Patau syndrome), and sex chromosome abnormalities (Figure 1).
Prevalence of Chromosomal Abnormalities
Prenatal screening and the diagnosis of fetal Down syndrome have become an integral part of professional counseling provided to pregnant women.
In 1985, the American College of Obstetricians and Gynecologists (ACOG) issued a professional obligation statement requiring that the significance and potential use of the AFP (alpha-fetoprotein) test for screening purposes be explained to the patient and documented in their file.
To reduce fetal loss associated with invasive diagnostic procedures, a variety of screening strategies were developed (Table I).
Among single-step methods, first-trimester combined screening—using nuchal translucency (NT) and serum markers such as PAPP-A or β-hCG—achieves the best results, with a detection rate of 90% and a false-positive rate of 5%.
Unfortunately, the positive predictive value—the likelihood that a positive test truly indicates an affected fetus—remains as low as 5%.
This means that 1 in 20–30 women with a positive result undergoes an invasive diagnostic test (such as amniocentesis or chorionic villus sampling – CVS) for confirmation.
False positives not only cause unnecessary maternal anxiety but also increase pregnancy loss risks from follow-up invasive procedures (Table II).
Prenatal Screening Methods (Table I)
| Screening Test | Trimester | Biomarkers | Detection Rate |
| Fetal Ultrasound | 1st | NT | 65–70% |
| Combined Test | 1st | NT + PAPP-A or β-hCG | 82–87% |
| Triple Test | 2nd | AFP, β-hCG, uE3 | 69% |
| Quadruple Test | 2nd | AFP, β-hCG, uE3, Inhibin-A | 81% |
| Integrated Test | 1st & 2nd | NT, PAPP-A + Quadruple Test | 94–96% |
| Serum Integrated Test | 1st & 2nd | PAPP-A + Quadruple Test | 85–88% |
| Sequential Screening | 1st & 2nd | 1st-trimester combined + amniocentesis/CVS or 1st + 2nd-trimester triple/quad tests | 95% |
Source: ASTER Research Consortium, NEJM 353(19):2001–2001 (2005); ACOG Practice Bulletin No.77, Obstetrics & Gynecology 109(1):217–227 (2007)
Prenatal Invasive Diagnostic Tests and Miscarriage Risk
| Diagnostic Test | Trimester | Method | Detection Accuracy | Miscarriage Risk |
| CVS (Chorionic Villus Sampling) | 1st (8–12 weeks) | Chromosome analysis / FISH | 99% | 1% |
| Amniocentesis | 2nd (14–18 weeks) | Chromosome analysis / FISH | 99% | 0.5% |
A Major Breakthrough: Detecting Fetal DNA in Maternal Blood
- A significant advancement in prenatal genetics was the discovery of fetal DNA fragments in maternal blood.
- By analyzing millions of random fragments of cell-free fetal DNA (cffDNA) using next-generation molecular technology, it is now possible to detect fetal Down syndrome with over 99% accuracy and less than 1% false positives.
- This high detection rate has been repeatedly confirmed in studies worldwide.
- Although NIPT is still classified as a screening test rather than diagnostic, it currently offers the best performance among all available screening methods.
Why Do Some Pregnant Women Decline Screening?
Traditional screening tests can be logistically demanding, often requiring multiple ultrasound evaluations and spanning into the second trimester, prolonging uncertainty.
A 5% false-positive rate results in thousands of women each year experiencing unnecessary anxiety.
Furthermore, many women decline invasive follow-up procedures due to fear of miscarriage.
This led to the development of a non-invasive prenatal diagnostic approach that could provide more accurate results without pregnancy risk.
Both the mother and the fetus release cell-free DNA fragments into the maternal bloodstream.
- Maternal DNA primarily originates from the bone marrow,
- Fetal DNA mainly comes from trophoblast cells that form the placenta.
- Approximately 90% of the total cell-free DNA in maternal plasma is maternal in origin, while about 10% is fetal.
- These small fetal DNA fragments are shed into the maternal bloodstream via the placenta.
- Importantly, fetal DNA fragments are significantly shorter than maternal ones — a difference exploited in laboratory protocols to isolate them effectively (Figure 4).
- Remarkably, after birth, fetal DNA fragments are cleared from maternal blood within just a few hours, confirming the transient and safe nature of the process.
In summary, NIPT represents the evolution of prenatal screening — combining cutting-edge molecular genetics with non-invasive safety, providing parents and clinicians with a clearer, earlier, and more reliable view of the baby’s chromosomal health.
