Что такое НИПТ?
16 декабря, 2025
Что такое Экзом?
16 декабря, 2025Что такое НИПТ?
16 декабря, 2025Что такое Экзом?
16 декабря, 2025
Что такое НИПТ?
Что такое НИПТ-тест?
НИПТ (неинвазивный пренатальный тест) — это неинвазивный пренатальный скрининговый тест, в ходе которого анализируется бесклеточная ДНК плода (вкДНК), циркулирующая в крови будущей матери, для получения информации о хромосомном здоровье ребенка. НИПТ особенно предпочтителен из-за его высокой точности в обнаружении аномалий хромосомного числа, таких как трисомия 21 (синдром Дауна), трисомия 18 (синдром Эдвардса) и трисомия 13 (синдром Патау). Этот тест можно проводить, начиная с 10-й недели беременности, для него требуется только одна пробирка крови, что не представляет риска ни для матери, ни для ребенка.
RapidNIPT — это бренд услуг НИПТ, предлагаемый Центром оценки генетических заболеваний Генокс. Все процессы теста RapidNIPT выполняются с помощью полностью автоматизированных, высокотехнологичных систем в лабораториях Генокса в Анкаре. Разработанный с использованием современных систем генетического анализа, принятых во всем мире, RapidNIPT обеспечивает безопасный, комплексный и научно обоснованный пренатальный скрининг. Благодаря RapidNIPT семьи могут принимать более обоснованные решения во время беременности и получать раннее представление о потенциальных рисках.
Что такое РапидНИПТ?
RapidNIPT is a dedicated NIPT test brand offered by the Genoks Genetic Diseases Assessment Center. All analyses are performed using high-technology systems within a fully automated laboratory infrastructure in Ankara. The process is conducted in accordance with high sensitivity and reliability standards, using methods that minimize human intervention.
RapidNIPT makes the genetic evaluation process patient-focused, fast, and practical. Test results are assessed by experienced medical genetics specialists and are presented to families together with professional genetic counseling.
How Is the RapidNIPT Test Performed?
The RapidNIPT test can be applied from the 10th week of pregnancy onward. The procedure is quite simple:
- A single tube of blood is collected from the expectant mother’s arm, just like a routine blood test.
- cfDNA (cell-free DNA) present in the blood sample is analyzed. cfDNA is genetic material that passes from the placenta into the mother’s bloodstream during pregnancy and provides information about the fetus.
- cfDNA is examined using advanced molecular analysis techniques.
Through this approach, fetal genetic data can be evaluated and a risk analysis for chromosomal abnormalities can be performed.
Down Syndrome and NIPT
The NIPT test is a reliable method particularly used in the assessment of common chromosomal abnormalities such as Down syndrome (Trisomy 21). Down syndrome results from the presence of an extra copy of chromosome 21 and is one of the most frequently observed chromosomal conditions during pregnancy.
Within the scope of screening for Down syndrome risk, RapidNIPT provides families with valuable information. In addition, evaluations can also be performed for other chromosomal abnormalities such as Trisomy 18 and Trisomy 13.
RapidNIPT and cfDNA Analysis
The focus of the RapidNIPT test is cfDNA found in the mother’s blood. cfDNA naturally circulates during pregnancy and reflects the genetic structure of the fetus. Thanks to this modern approach, risk assessment is performed without any invasive procedures, ensuring a safe process for both the mother and the baby.
Advantages of RapidNIPT
- Non-invasive method: Only a blood sample is required.
- Early applicability: Can be performed from the 10th week of pregnancy.
- Broad screening scope: Down syndrome and other chromosomal abnormalities can be evaluated.
- Fast results: Risk assessment can be completed within a short time.
- Expert support: Results are interpreted by physician medical genetics specialists.
Frequently Asked Questions
What is the NIPT test and what is it used for?
NIPT (Non-Invasive Prenatal Test) is based on the analysis of cfDNA in the mother’s blood and provides screening information for certain chromosomal abnormalities such as Down syndrome.
From which week of pregnancy can the NIPT test be performed?
It is generally performed from the 10th week of pregnancy. Suitability should be evaluated by a physician based on individual circumstances.
Is NIPT an invasive procedure?
No. It is performed using only a blood sample and is a non-invasive screening method.
Which chromosomal abnormalities does the NIPT test assess?
Primarily Down syndrome (Trisomy 21), as well as common autosomal aneuploidies such as Trisomy 18 and Trisomy 13, del/dup syndromes larger than 7 Mb, sex chromosome aneuploidies, and additionally DiGeorge syndrome in the PLUS package.
How accurate is the NIPT test?
It has high accuracy rates; however, it is a screening test and provides risk assessment rather than a definitive diagnosis. Diagnostic tests may be recommended if necessary.
How long does it take to receive the results?
RapidNIPT results are reported within 3 to 5 business days, while RapidNIPTPlus results are reported within 7 to 10 business days.
In which situations might a result not be obtained?
Low fetal fraction in early gestational weeks, multiple pregnancies, or technical reasons may affect the result. In such cases, a repeat sample may be requested.
Что такое РапидНИПТ?
RapidNIPT is Genoks’ NIPT brand. It offers cfDNA-based non-invasive screening, and results are evaluated by medical genetic specialist physicians together with clinical information.
