NIPT test is an advanced genetic screening method performed by analyzing fetal cell-free DNA in the mother’s blood during pregnancy. The aim is to determine the risk level of specific chromosomal numerical differences at an early stage.
NIPT test is a prenatal screening option that can be applied from the tenth week of pregnancy onward and does not require an invasive procedure. It reports probability regarding numerical chromosomal anomalies such as Down syndrome, Trisomy 18, and Trisomy 13. Cell-free fetal DNA analysis is carried out in a laboratory environment using advanced sequencing technologies. Laboratory evaluation does not establish a definitive diagnosis; it reports a risk category and, when deemed necessary, supports referral to confirmatory diagnostic methods such as amniocentesis.
How is the NIPT Test Performed?
The question “How is the NIPT test performed?” is one of the most frequently asked by expectant mothers who want to know their baby’s genetic health during pregnancy. This test is among the new-generation screening methods developed to evaluate the genetic health of the baby during pregnancy.
During the procedure, the NIPT non-invasive prenatal procedure is used, known for being non-invasive. This test was developed to assess whether the unborn baby has chromosomal abnormalities.
The application process consists of the following steps:
- Once the pregnancy week is appropriate, a blood sample is taken from the expectant mother.
- In the sample taken, cell-free DNA fragments containing the baby’s genetic material are isolated.
- This sample is analyzed in a competent laboratory and examined for chromosomal diseases.
- The results are sent to the physician and shared with the family for use in pregnancy follow-up.
This test does not completely replace other screening tests used in pregnancy follow-up but offers a higher accuracy rate.
As a screening test, NIPT is an important source of information in high-risk pregnancies or cases with a family history of genetic disorders. If a specific chromosomal disorder is suspected in the test results, additional diagnostic methods are used to confirm it.
This method, which is considered medically safe, provides information without harming the health of the mother and baby. For this reason, it is widely preferred by families who want early evaluation in terms of chromosomal abnormalities. To obtain more detailed information about the process, you may review the Fetal DNA content.
Why is the NIPT Test Performed?
It is performed to determine the risk of chromosomal differences at an early stage during the prenatal period. Evaluation results help clarify the course of pregnancy follow-up and may reveal the need for further examination.
Advanced maternal age, a history of chromosomal anomalies in a previous pregnancy, or suspicious findings detected in screening tests may bring cell-free DNA analysis into consideration. The NIPT test is based on examining fetal DNA fragments present in maternal blood and evaluates possible numerical chromosomal differences at the risk level.
The process proceeds with sending the blood sample taken at the appropriate gestational week to the laboratory for analysis. As a result of the examination, low or high probability is reported for specific syndromes.
The prominent conditions in risk assessment are as follows:
- Advanced maternal age: With increasing age, the likelihood of certain chromosomal anomalies increases.
- Ultrasound findings: When a structural difference is detected, genetic risk analysis may be recommended.
- Family history: The presence of similar anomalies in the past may affect the decision-making process.
- Previous screening results: Reporting increased risk in double or triple screening tests may require further analysis.
Since the procedure does not involve an interventional process for the mother or the fetus, it is considered safe. The results allow referral to diagnostic methods such as amniocentesis when necessary. Risk assessment contributes to families making informed decisions together with their physicians.
Who is the NIPT Test Performed For?
Prenatal genetic risk analysis is recommended for pregnant individuals with certain health conditions. Those identified as having increased probability as a result of physician evaluation are among the primary candidates.
In cases of advanced maternal age, a history of numerical chromosomal differences in a previous pregnancy, or suspicious findings detected in routine screenings, cell-free DNA analysis comes into consideration. The aim is to identify chromosomal anomalies at the risk level and conduct the follow-up process in a more controlled manner.
The candidate selection process begins with a detailed examination of individual risk factors. Obstetric history, family background, and medical data related to the current pregnancy are evaluated together.
The main groups for whom the procedure is recommended are as follows:
- Pregnant individuals aged thirty-five and older: With increasing age, the likelihood of certain numerical differences increases.
- Those with a history of genetic differences in a previous pregnancy: Advanced analysis may be required to evaluate recurrence risk.
- Those identified as high probability in combined screening tests: Further screening may be performed to clarify the risk rate.
- Those with structural differences observed in ultrasound examination: Findings may be of genetic origin, and detailed analysis may be planned.
The procedure is carried out by analyzing the blood sample taken at the appropriate gestational week in a laboratory environment. Results are reported as a risk category and indicate probability rather than a definitive diagnosis. Evaluation results contribute to the physician’s decision-making process in determining the need for advanced diagnostic methods.
NIPT Test Result
The report provides an evaluation in the form of low or high probability regarding specific chromosomal numerical differences. Analysis results do not establish a definitive diagnosis; they report the risk level and guide the follow-up process.
The analysis is based on examining cell-free fetal DNA fragments obtained from the expectant mother’s blood using advanced laboratory methods. Once the study is completed, results are generally delivered to the physician within a few days and interpreted together with the clinical picture.
In the evaluation process, biological sample quality, fetal DNA fraction, and technical analysis adequacy are important. In cases reported as low probability, routine pregnancy follow-up is maintained. When high probability is identified, advanced diagnostic methods may come into consideration.
The report content generally includes the following headings:
- Chromosomal regions examined: It is stated whether specific numerical differences are included within the scope of analysis.
- Risk classification: Clinical interpretation is presented as low or high probability.
- Fetal fraction rate: The percentage of fetal DNA in the sample is evaluated in terms of analysis reliability.
- Technical adequacy information: It is reported whether the study meets quality criteria.
Reporting high probability does not mean a definitive diagnosis and may require confirmatory interventional methods. A low probability result indicates that the risk for the related anomaly has decreased. Clinical decision-making is shaped in conjunction with obstetric evaluation and counseling. An information-based approach contributes to families managing the process more consciously.
NIPT Test Price
The NIPT test price may vary depending on the equipment of the healthcare facility where the test is performed, the up-to-dateness of the technology used, and the scope of the service. This test is one of the modern screening methods preferred to assess certain genetic risks during pregnancy.
In Türkiye and worldwide, prices may vary between private and public healthcare institutions. Especially when the test is carried out in cooperation with foreign laboratories, it becomes a significant cost factor.
NIPT test result reports generally include a detailed genetic evaluation. During the test, fetal DNA fragments belonging to the baby are analyzed from a blood sample taken from the mother’s arm. This collected blood sample is sent to the relevant laboratory for competent genetic analysis.
The sensitivity of the devices used in this process and the reporting time can be determining factors in the price. In addition, some institutions may include genetic counseling services in the price.
The main factors affecting the price of genetic screening tests during pregnancy are:
- Whether the test is performed domestically or abroad
- The reporting time (short or long)
- Inclusion of additional genetic screenings
- The technology used and the quality of the equipment
- Counseling services offered
The prenatal NIPT test not only evaluates the risk of chromosomal disorders but also helps families make more informed decisions during pregnancy. Therefore, it is recommended that individuals planning to have the test consider not only the cost but also the scope of the test, reporting quality, and expert support.
When researching prices, choosing centers that offer reliable and scientifically standardized services will be a more accurate long-term choice.
Frequently Asked Questions
It examines the baby’s DNA fragments to assess potential chromosomal disorders.
The price may vary depending on the institution, technology used, and additional analysis scope.
For a definitive diagnosis, advanced genetic tests such as amniocentesis or CVS are recommended.
It can usually be performed from the 10th week of pregnancy onwards.
Standard NIPT applications do not screen for SMA; additional genetic tests are required.
It is useful in helping to determine chromosomal risks at an early stage.
Tests with broader scope, higher accuracy, and faster reporting are preferred.
It can also be applied in multiple pregnancies, but the interpretation process may be more complex.
In rare cases, false positives or negatives can occur.
For a detailed evaluation regarding the NIPT test applied during pregnancy, you can contact Denge Tıp.