Fetal DNA Test
The “Fetal DNA test” or medically known as NIPT (Non-Invasive Prenatal Test), is a modern screening test performed by analyzing the genetic material (DNA) of the baby in the mother’s blood during the early stages of pregnancy. This test can detect chromosomal anomalies such as Down syndrome (Trisomy 21), Trisomy 18, and Trisomy 13 with high accuracy. It is completely risk-free for both mother and baby as it is performed without taking amniotic fluid with a needle. Nowadays, it is especially preferred in advanced maternal age pregnancies, situations with high risk in screening tests, or if there is a family history of genetic disease. 9ec
What is the Fetal DNA Test?
The Fetal DNA test is performed by analyzing the cell-free fetal DNA (cffDNA) fragments found in the mother’s bloodstream. It can be applied from the 10th week of pregnancy. These DNA fragments pass from the placenta to the mother’s blood and are evaluated with high-tech analyses in the laboratory. The purpose of the test is to detect chromosomal abnormalities early. The Fetal DNA test is not a diagnostic test but a screening test with high accuracy. In suspicious cases, results are confirmed with amniocentesis or chorionic villus sampling (CVS).
How is the Fetal DNA Test Performed?
The test is performed with a simple blood test. About 10 ml of blood taken from the mother’s arm is sent to a genetic laboratory in special tubes. In the laboratory, the DNA of the mother and fetus is separated and then examined with advanced analysis techniques such as Next Generation Sequencing (NGS) or similar. Results are usually available within 7-10 days. No physical intervention is made to the baby or mother during the test; therefore, it is non-invasive (i.e., not interventional). 33f
When is the Fetal DNA Test Recommended?
The Fetal DNA test is especially recommended in the following situations:
– If the mother’s age is 35 or older
– If there is a history of a baby with chromosomal anomaly in a previous pregnancy
– If high risk is detected in double or quadruple tests
– If there is a suspicion of anomaly in ultrasound findings
– If there is a family history of genetic disease
– If invasive procedures like amniocentesis are to be avoided
In these cases, the fetal DNA test is a safe option to clarify the risk. 4cb
Advantages of the Fetal DNA Test
The most important advantage of this test is that it is safe for both the mother and the baby. Since only the mother’s blood is used, there is no risk of miscarriage. Additionally, the accuracy rate is high (approximately 99% for Down syndrome). Since the test can be performed in early weeks, timely referral to advanced diagnostic tests can be made if necessary. Moreover, the test can also determine the baby’s gender. 338
Scope of the Fetal DNA Test
Standard fetal DNA tests generally evaluate Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 13 (Patau syndrome). In extended versions, sex chromosome anomalies (Turner, Klinefelter syndrome) and some microdeletion syndromes (e.g., DiGeorge syndrome) can also be detected. Which panel will be applied is determined according to the mother’s history and risk factors. 9ec
Difference Between Fetal DNA Test and Other Screening Tests
Double and quadruple tests determine risk ratios by measuring hormone levels, whereas the fetal DNA test directly analyzes genetic material. Therefore, its accuracy rate is much higher than traditional tests. However, if the NIPT result is positive, amniocentesis or CVS is required for a definitive diagnosis. NIPT is not a diagnostic test but an advanced screening method. 4cc
Importance of AMH and Pregnancy Age in Fetal DNA Test
Although the test is not directly related to ovarian reserve, the level of AMH (Anti-Müllerian Hormone) is a determining parameter in pregnancy planning. In women with low AMH (Low Ovarian Reserve – DOR), achieving pregnancy may be more difficult; therefore, it is recommended to perform genetic screenings carefully after pregnancy is achieved. Especially in advanced maternal age pregnancies, both AMH and fetal DNA tests are evaluated together. ⚕️
Limitations of the Fetal DNA Test
Although the fetal DNA test has a high accuracy rate, it does not offer 100% certainty. The possibility of insufficient results (e.g., “no call” result) can occur in cases where the amount of placenta-derived DNA is low. In this case, the test can be repeated. Additionally, the test does not show structural anomalies (e.g., heart or brain development defects); therefore, it should be evaluated together with a detailed ultrasound.
| Parameter | Description |
|---|---|
| Application Week | From the 10th week |
| Application Method | DNA analysis with a sample taken from the mother’s blood |
| Diseases Examined | Trisomy 21, 18, 13, and sex chromosome anomalies |
| Result Duration | 7-10 days |
| Accuracy Rate | 99% (for Down syndrome) |
| Risk Factor | No physical risk for mother or baby |
Fetal DNA Test Prices
The cost of the fetal DNA test may vary depending on the analysis panel used (standard, extended, or full chromosome analysis), laboratory technology, and scope. In our clinic, a personalized test selection is made, and detailed information about the process is provided. For current price information, please contact our clinic. 4de
In conclusion, the fetal DNA test is one of the safest and most sensitive methods for evaluating genetic health during pregnancy. Its non-invasive, fast, and comfortable nature provides great comfort to expectant mothers. Early diagnosis and accurate information form the basis of a healthy pregnancy process. 337
Frequently Asked Questions About the Fetal DNA Test
Question: When can the fetal DNA test be performed?
4a1 It can be performed from the 10th week of pregnancy; before this week, there is not enough fetal DNA.
Question: Does the test harm the baby or mother?
4cc No, it is completely risk-free as only the mother’s blood is taken.
Question: Does the fetal DNA test determine gender?
705 Yes, the test can also show the baby’s gender with high accuracy.
Question: What should be done if the fetal DNA test is positive?
In this case, amniocentesis or chorionic villus sampling (CVS) should be performed for a definitive diagnosis. 9fa
