For expecting parents, nothing is more important than the health and well-being of their unborn child. Prenatal screening can ease their concerns by providing crucial information about any potential health issues their child may have.
In this article, we shall be taking a comprehensive look at the NIPT test for genetic disorders.
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NIPT is the acronym for "Non-invasive Prenatal Testing." Alternatively, this test is also known as cfDNA (cell-free DNA) screening or NIPS (non-invasive prenatal screening).
Prenatal tests, such as the NIPT, are crucial. This is because they provide valuable information about the health and development of the unborn child. As the name implies, this is a non-invasive process that involves drawing blood from the mother, as it contains fragments of the baby's DNA. The blood sample is then utilised to check for certain chromosomal diseases or abnormal DNA in the unborn child. The results of this test can be used to make informed decisions during pregnancy.
NIPT can be used to screen for the likelihood of developing the following congenital disorders:
● Trisomy 21 (Down syndrome)
● Trisomy 18 (Edwards syndrome)
● Trisomy 13 (Patau syndrome)
● Common sex chromosome conditions, like Turner syndrome and Klinefelter syndrome
Another unintended result of NIPT is that it can be used to determine the baby's sex early in pregnancy. Since the test analyses fragments of the baby's DNA found in the mother's blood, it can also detect the presence or absence of Y chromosomes.
NIPT is an optional prenatal test. It's usually recommended in the following cases:
● An earlier pregnancy led to the birth of a child with a chromosomal abnormality.
● Early ultrasound scans suggest the presence of congenital abnormalities in the fetus.
● The results of other prenatal tests indicated the presence of potential health issues in the fetus.
● There is a family history of chromosomal abnormalities.
NIPT is usually recommended for most pregnancies. However, the results might not be accurate for:
● Obese women who have a BMI of 30 or more
● Women who are pregnant with more than one baby (twins, triplets, etc.)
● Women who have conceived via assisted reproductive technology, like IVF
● Expectant mothers who are currently on certain anti-coagulants or blood thinners
The non-invasive prenatal testing can be conducted only after 10 weeks of pregnancy since there won't be enough fetal DNA in the mother's bloodstream before this time.
One of the biggest advantages of NIPT is the fact that it is a non-invasive test. It just needs a sample of the expectant mother's blood.
NIPT is a highly accurate prenatal test. It is approximately 99% accurate in screening for Down syndrome. For Trisomy 18, the result accuracy is approximately 97.7%, while for Trisomy 13 it's around 96.1%.
NIPT can be conducted during a regular prenatal checkup. It does not require any preparation, and the cost of the NIPT test is quite nominal.
NIPT can be conducted as early as 10 weeks of pregnancy. This gives parents crucial information about their infant's health early on, allowing them more time to get ready and, if necessary, make well-informed decisions.
NIPT is a valuable genetic screening tool. However, it does have a few limitations:
It must be noted that NIPT is a prenatal screening test that can only indicate the likelihood of developing certain chromosomal disorders. In other words, it only shows if the fetus is more likely to have a particular condition. It cannot be used as a diagnostic tool to detect the actual presence of the disorder. For a conclusive diagnosis, other tests, like CVS or amniocentesis, will be required.
Even with its exceptional accuracy, NIPT is not infallible. There is a slight chance that false positives, where the test indicates a genetic disorder the child does not actually have, or false negatives, where a condition goes undetected, may occur.
NIPT cannot be used to screen for all congenital or chromosomal disorders in the fetus. It cannot be used to screen for neural tube abnormalities, heart conditions, or other common genetic conditions.
NIPT is a simple and non-invasive procedure.
1. A sample of the mother's blood is usually taken during a routine prenatal checkup after 10 weeks of pregnancy.
2. This blood sample is then sent to a laboratory, where fragments of fetal DNA in the mother's blood will be analysed. This could take a couple of weeks to be completed.
3. The doctor examines the test results, and any further steps that need to be taken will be recommended accordingly.
To confirm the presence of Down syndrome, the most preferred test is amniocentesis. When considering NIPT vs amniocentesis, safety remains one of the main differences. NIPT is a simple blood test that poses no risks to either mother or child. On the other hand, amniocentesis, which has a slight risk of problems like infection or miscarriage, involves putting a needle into the uterus to extract amniotic fluid. Many parents prefer NIPT for early insights without added risks.
Non-invasive prenatal tests like NIPT are essential since they can help predict the health of the unborn child. Such tests are invaluable for parents who want to make informed decisions during the early weeks of the pregnancy, especially if there is a prior history of chromosomal disorders in their family.
Non-invasive prenatal testing (NIPT) refers to a prenatal screening that can be done after completing 10 weeks of pregnancy. A sample of the mother's blood will be taken to screen for the likelihood of the fetus developing certain congenital chromosomal disorders.
NIPT uses the fetal DNA fragments in the mother's blood to screen for certain genetic disorders like Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome) and Trisomy 13 (Patau syndrome).
Sufficient levels of fetal DNA fragments will only be found once the pregnancy crosses 10 weeks or so. Hence, it's best to take the NIPT screening test after being pregnant for 10 weeks.
NIPT is invaluable as it can predict the likelihood of the fetus developing the following disorders: ● Trisomy 21 (Down syndrome) ● Trisomy 18 (Edwards syndrome) ● Trisomy 13 (Patau syndrome) ● Sex chromosome conditions, like Turner syndrome and Klinefelter syndrome
