FETAL DNA (NIPT) TEST

Understanding the Non-Invasive Prenatal Test

What Is the NIPT Test?

NIPT (Non-Invasive Prenatal Testing), also known as the fetal DNA test or cell-free fetal DNA (cffDNA) test, is a modern prenatal screening method that analyzes fragments of your baby’s DNA circulating in your blood during pregnancy. It helps detect potential chromosomal abnormalities with remarkable accuracy — all through a simple blood test.

For information and appointments: +90 542 225 89 12 – Ataşehir / Istanbul

Unlike older screening methods, NIPT poses no risk to mother or baby because it requires only a blood sample from the mother’s arm. The test does not involve amniocentesis or other invasive procedures and can provide reliable insights as early as the 10th week of pregnancy.

How Does the NIPT Test Work?

During pregnancy, small fragments of the baby’s DNA from the placenta circulate in the mother’s bloodstream. These fragments are called cell-free fetal DNA (cffDNA). By analyzing this DNA, genetic specialists can determine if the baby has a higher chance of having certain chromosomal conditions.

Using advanced genetic sequencing techniques such as Next Generation Sequencing (NGS), laboratories analyze the chromosomes for abnormalities. This high-precision technology can detect even minor changes in the number of chromosomes.

Results are typically ready within 7–10 days, and in some cases, express processing can deliver results in as little as 3–5 days.

Conditions Detected by NIPT

Common Chromosomal Abnormalities

NIPT primarily screens for three major chromosomal disorders:

Down Syndrome (Trisomy 21): Caused by an extra copy of chromosome 21; detection rate is above 99%.
Edwards Syndrome (Trisomy 18): A serious condition resulting from an extra 18th chromosome; detection rate exceeds 97%.
Patau Syndrome (Trisomy 13): Caused by an extra 13th chromosome; detection accuracy is greater than 90%.

Sex Chromosome Abnormalities

In addition to these, NIPT can detect irregularities involving sex chromosomes, such as:

Turner Syndrome (45,X)
Klinefelter Syndrome (47,XXY)
Triple X Syndrome (47,XXX)
Jacobs Syndrome (47,XYY)

Extended Panels

Advanced laboratories offer extended NIPT panels that go beyond basic chromosomal abnormalities. These panels can identify microdeletions and microduplications associated with rare syndromes such as DiGeorge, Prader-Willi, and Angelman. Consultation with your physician helps determine whether these expanded options are appropriate for your pregnancy.

When Should the NIPT Test Be Done?

The NIPT test can be performed anytime from the 10th week of pregnancy onward. At this stage, there is enough fetal DNA in the maternal bloodstream for accurate analysis. The test can also be safely performed later in pregnancy, including in the second and third trimesters.

Who Should Consider NIPT?

Although the NIPT test is suitable for all pregnant women, it is especially recommended in the following situations:

Maternal age 35 or older
Abnormal results from first-trimester screening tests
Family history of chromosomal disorders
Ultrasound findings suggesting possible genetic concerns
Pregnancies achieved through IVF (in vitro fertilization)
Parents who carry known chromosomal rearrangements
Those wishing to avoid invasive tests like amniocentesis or CVS

Advantages of NIPT

1. High Accuracy:
NIPT detects Down syndrome with over 99% accuracy and other trisomies with equally high precision.

2. Completely Safe:
Because it requires only a blood sample, there is no risk of miscarriage or harm to the baby.

3. Early Detection:
It can be done as early as week 10, allowing families more time to make informed decisions.

4. Gender Determination:
The baby’s gender can be determined with high accuracy at the same time as the genetic screening.

5. Fewer False Positives:
The test significantly reduces unnecessary invasive procedures.

6. Painless and Simple:
No fasting or special preparation is required; the blood draw takes only a few minutes.

Limitations of NIPT

While NIPT is highly accurate, it remains a screening test, not a diagnostic one. A “high-risk” or “positive” result should always be confirmed through diagnostic testing such as amniocentesis or chorionic villus sampling (CVS).

The NIPT does not screen for all genetic disorders. Single-gene conditions, structural chromosome rearrangements, or neural tube defects are beyond its scope.

In rare cases, the test may fail to produce a result — usually due to insufficient fetal DNA in the maternal blood. This occurs more often in early pregnancy or in individuals with higher body mass. If that happens, repeating the test after one or two weeks often solves the issue.

How Is the NIPT Test Performed?

Before the Test:
Your doctor will explain the test, its scope, and possible outcomes. Many clinics provide pre-test genetic counseling to help you understand what the results may imply.

During the Test:
A small amount of blood is drawn from your arm. You don’t need to fast or make any special preparation.

After the Test:
The sample is sent to a genetic laboratory for analysis. You’ll receive your results within about a week, and your doctor will review them with you.

Interpreting the Results

Low Risk (Negative):
A low-risk result means it is very unlikely that your baby has the chromosomal abnormalities tested for. However, this does not guarantee a completely healthy baby, as not all conditions are covered by NIPT.

High Risk (Positive):
A high-risk result suggests an increased chance of a chromosomal condition but is not a definitive diagnosis. Confirmatory diagnostic testing is necessary to verify the finding.

Inconclusive Result:
If the test cannot provide a result, it may be repeated. Many clinics offer retesting at no additional charge or at a discounted rate.

NIPT Test Pricing

Basic NIPT tests: 12,500 – 14,000 TL
Extended panels: 15,000 – 18,000 TL

At present, the NIPT test is not covered by national insurance. However, certain private health insurance plans may partially reimburse the cost depending on the policy.

Where Is the NIPT Test Available?

The test is available at most modern obstetrics clinics, hospitals, and genetic diagnostic laboratories. Samples are analyzed in accredited labs using internationally standardized technologies to ensure reliable results.

Comparison with Other Screening Methods

Combined First-Trimester Screening (Double or Triple Test):
While still used, traditional screening tests have lower accuracy and higher false-positive rates compared to NIPT.

Ultrasound Examination (Nuchal Translucency):
Ultrasound remains essential in assessing fetal anatomy and structural development. NIPT complements ultrasound rather than replacing it, providing genetic information that ultrasound alone cannot reveal.

Frequently Asked Questions

Is the NIPT test mandatory?
No. It is entirely optional and based on the parents’ preferences.

Does the NIPT test provide a definitive diagnosis?
No. It’s a screening tool. Positive results must be confirmed through diagnostic procedures.

Can the NIPT test determine the baby’s gender?
Yes, it can determine gender with high accuracy as early as 10 weeks.

Do I need to fast before the test?
No fasting is required.

How long does it take to receive results?
Usually within 7–10 days. Some labs offer express services with results in 3–5 days.

Is it safe for twin pregnancies?
Yes, though accuracy is slightly lower than for single pregnancies. It is not recommended for triplet or higher-order multiples.

Final Thoughts

The Fetal DNA (NIPT) test represents one of the most significant advances in modern prenatal care. It allows expectant parents to gain early, reliable insight into their baby’s genetic health without the risks associated with invasive testing.

By combining safety, precision, and early detection, NIPT empowers families to make informed decisions and ensures peace of mind during pregnancy.

For the best results, it is essential to perform the test under the supervision of an experienced obstetrician and to interpret the findings alongside a qualified genetic counselor. Regular prenatal checkups and ultrasounds should continue as part of comprehensive pregnancy care.