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Fetal Medicine Treatments-Non-Invasive Testing in Mukundapur

Non-Invasive Testing

Non-Invasive Testing in Mukundapur

Non-invasive prenatal testing (NIPT), also known as NIPS or cfDNA screening, is a crucial measure for detecting chromosomal disorders in the developing foetus during pregnancy. This procedure assesses the possibility of chromosomal abnormalities such as conditions like Down syndrome, Edwards syndrome, and Patau syndrome by analysing the cell-free foetal DNA circulating in the mother's blood. It can also help in identifying the gender of the foetus.

The process includes taking samples of a mother's blood that include fragments of foetal DNA, which are subsequently examined in a lab to determine their genetic makeup. NIPT cannot detect all chromosomal or genetic abnormalities as it is a screening diagnostic method rather than a conclusive diagnostic test. Healthcare providers must guide ‌patients in making appropriate decisions regarding any concerns related to procedures and educate them regarding any other alternative tests or procedures available.

FAQ's

NIPT testing can be carried out anytime, from the tenth week of pregnancy until delivery. Usually, before 11 weeks of pregnancy, there is not enough foetal DNA available in a pregnant woman's blood. It is typically advised that a woman undergo an ultrasound before collecting a blood sample for NIPT. The ultrasound serves to verify the pregnancy's progress and viability, as NIPT is not yet approved for use before 10 weeks of gestation.

Undergoing NIPT is not obligatory. However, it is an option for expectant mothers who are at least 11 weeks into the gestation period. High-risk pregnancies in women over 35 or with a history of trisomies may find it especially useful due to its lower false-positive rates.

Using donor eggs or sperm, having a high body mass index, or using specific drugs are a few potential causes of NIPT test inaccuracy. If the results are unclear, more diagnostic testing could be required. To guarantee the best prenatal care possible, NIPT decisions should ultimately be based on individual circumstances and advice from medical providers.  

The following is what a NIPT test will entail:

  • Preparation: To improve the quality of your ultrasonography images, start drinking water early.

  • Ultrasound: This non-invasive scan is used to determine the age of gestation.

  • Blood sample collection: Following an ultrasound, blood is drawn in a non-invasive manner.

  • Analysis in the laboratory: A specialised lab is responsible for evaluating any chromosomal irregularities.

  • Outcome: The healthcare provider received a report detailing the baby's potential chromosomal risks within 3–5 days.

  • After procedure care: In the absence of specific instructions, there is no need for additional caution, and you can resume normal activities. Follow the advice given by the physician in light of the findings of your examination.

This process is carried out to identify any abnormalities during pregnancy and has several benefits, such as:

  • Non-invasive: Since a blood sample is taken from a pregnant woman, there is no risk of miscarriage when undergoing NIPT/NIPS.

  • High Accuracy: Compared to traditional methods of screening, such as the quad screen, NIPT/NIPS boasts a lower rate of false positives and a greater ability to detect common chromosomal abnormalities like Down syndrome.

  • Early Detection: NIPT/NIPS can be performed as early as 9–10 weeks of pregnancy, which enables faster results than alternative diagnostic techniques like amniocentesis or chorionic villus sampling (CVS).

There are three possible classifications for test results: low-risk, high-risk, or not reported. A low-risk result is considered highly reassuring, as it indicates a very low likelihood of the baby having any of the screened conditions. In some cases (3–8%), the test may not be able to be completed, and a result cannot be reported if there is not enough foetal DNA present in the mother's blood. A high-risk result suggests a high chance of the baby having the genetic condition, but it is important to note that this result is not definitive and further diagnostic testing is recommended. Amniocentesis and chorionic villus sampling (CVS) are prenatal tests that involve collecting cells from amniotic fluid or the placenta to diagnose conditions. These tests carry a small risk of miscarriage (0.2% for amniocentesis and 1% for CVS).

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