Question

1. While non-invasive prenatal testing (NIPT) is increasingly common in the United States, it is not universally supported

1. Make at least one argument for NIPT.
2. Make at least one argument against NIPT.
3. Contrast these arguments and discuss how you feel about NIPT (so long as you engage specifically with the arguments, there is no wrong answer to this question, it’s based on your opinion)

Answer 1

Non-invasive prenatal testing (NIPT) also sometimes known as non-invasive prenatal screening (NIPS) is a method of determining whether or not the foetus will be born with certain genetic abnormalities.

NIPT uses cell-free DNA (cfDNA) which are circulating in the mother's blood to detect the foetal genetic disorders. This cfDNA is called so because it is found freely circulating in the pregnant woman's blood and is not found within the cell.

(1) NIPT can be a very useful tool for detecting the foetal trisomies, like Down's syndrome, fetal Rhesus D status, sex chromosome disorders, etc. It was earlier used only by the United States as a method to detect the genetic abnormalities in the foetus, but recently it has been seen that even other countries are adopting the same.

NIPT being available in various other countries means that even in resource-poor countries, early detection of chromosomal and other genetic abnormalities can be done early. NIPT is far much easier because it requires only a simple procedure like blood draw, and reduces the need for both highly trained and skilled personnel as well as invasive diagnostic procedures.

(2) The major concern with NIPT is the cost needed to carry out such testing methods. In countries where these tests are covered by insurance, the women opting for such tests should have no concern about the expenses. however, in the case of low and middle-income countries, the out-of-pocket expenses become high. In countries like China and Brazil, where these tests will not be covered by insurance (private/state), the expenses tend to rise steeply. thus, whenever cost-effectiveness isn't set up, public health agencies may excuse NIPT as being pointless or costly.

(3) NIPT serves as a tremendous method to detect foetal aneuploidy at an early stage. Regardless of the molecular technique used, these methods have a very high sensitivity and specificity for trisomy 18 and trisomy 21. However, it should be made known to the patient undergoing this test that this test does not replace the precision which will be obtained with other diagnostic tests, such as chorionic villus sampling or amniocentesis. It also does not assess the risk of fetal anomalies such as neural tube defects or ventral wall defects, thus we can say that it does not fully determine all the chromosomal abnormalities.Thus, management of the pregnancy, including the decision to terminate the pregnancy should not be based on the results of the NIPt alone but also on other additional tests.

Furthermore, a negative NIPT does not mean that the pregnancy will be unaffected by genetic abnormalities - there is always a certain percentage of error present. In addition to this, the high cost of this test also adds up. Paying a large amount of money only to realise later that the test results were false can take both its mental as well as economic toll on the parents.

Thus taking into account all the factors including the cost-effectiveness of this method, the risks, limitations and the limited amount of data available regarding the reliability and genuineness of this method, in my opinion, the conventional screening methods still remain a better choice with for first-line screening in pregnant women.