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NIPT: What Disorders Can It Screen For And How It is Beneficial?


Noninvasive prenatal testing (NIPT), also known as noninvasive prenatal screening (NIPS), is a way of determining the risk that the fetus will be born with specific genetic abnormalities. This testing analyzes small DNA fragments circulating in a pregnant woman’s blood. Unlike most DNA found inside a cell’s nucleus, these fragments are free-floating and not within cells, known as cell-free DNA (cfDNA). These tiny fragments often contain less than 200 DNA building blocks (base pairs) and occur when cells die off and get broken down, and their contents, including DNA, are discharged into the bloodstream.

During pregnancy, the mother’s bloodstream mixes cfDNA from her cells and cells from the placenta. The placenta is tissue in the uterus that connects the fetus and the mother’s blood supply. These cells are freed into the mother’s bloodstream throughout pregnancy. The DNA in placental cells is usually similar to the DNA of the fetus. Analyzing cfDNA from the placenta allows early detection of specific genetic abnormalities without hurting the fetus.

NIPT is usually used to look for chromosomal disorders that are caused by the existence of an extra or missing copy of a chromosome. NIPT mainly looks for Down syndrome, trisomy 13 (caused by an extra chromosome 13), trisomy 18 (caused by an extra chromosome 18), and additional or missing copies of the X chromosome and Y chromosome (the sex chromosomes). The precision of the test varies by disorder.
NIPT is used to test for genetic disorders caused by changes (variants) in single genes. NIPT may include screening for other chromosomal diseases caused by missing (deleted) or copied (duplicated) areas of a chromosome. As technology advances and the cost of genetic testing drops, researchers hope that NIPT will become available for many more genetic conditions.

Who Should Have Noninvasive Prenatal Testing?

NIPT is a blood screening your physician may offer any time after ten weeks of your pregnancy. Most often, your doctor will advise the testing if you are at higher risk of carrying a child with a chromosomal abnormality. You are more at risk if you are 35 or older, have a previous pregnancy with a chromosomal disorder, or have abnormal test results from other screenings or tests. But you may also opt for this test if you don’t have risk factors.

What are the Advantages of NIPT Test

Highly Accurate
NIPT results are accurate in 99% of cases. This clears doubts about chromosomal abnormalities and helps parents to deal with issues in their unborn children. For example, NIPT testing can diagnose problems like Down syndrome. NIPT also reduces the need for other forms of invasive prenatal testing.

Safe
NIPT is noninvasive and does not harm the baby's or the mother's health. Since it involves only a simple blood test, it does not cause any pain or discomfort. It also has no relation to miscarriages. Pregnant women above the age of 35 and those with an ultrasound showing an increased risk of aneuploidy or those with a history of trisomy can benefit from this type of prenatal testing.

Comfortable
Unlike prenatal tests requiring precision while withdrawing DNA from the amniotic sac, the NIPT needs far less expertise. This makes women much more comfortable undergoing this form of testing than the other.

Early Diagnosis
With prenatal testing, parents do not have to wait until a baby is born to discover if they suffer from any genetic complications. NIPT can be scheduled as early as ten weeks into the pregnancy, giving the parents enough time to prepare themselves to deal with the issue.

The benefits of having the minimally invasive screening test include less patient anxiety and reduced procedure-related miscarriage as compared to amniocentesis procedures, lower cost of care, and more patient screening compliance.

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