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What is Fetal Fraction in NIPT?

Fetal Fraction in NIPT

Being pregnant is an incredible experience full of joy, hope, and a desire to protect the growing life inside you. Pregnant women have access to sophisticated prenatal screening that offers priceless insights into the genetic health of their unborn child. One such test that has completely changed the prenatal care landscape is the Non-invasive prenatal test (NIPT), which provides a reliable and accurate way to determine a woman’s chance of developing specific abnormalities in her chromosomes. Fetal fraction NIPT is the fundamental component of this test and is an important aspect that greatly influences the accuracy and dependability of the results.

What Does Fetal Fraction Mean?

The amount of cell-free DNA (cfDNA) from the birth canal and, consequently, the growing fetus in a pregnant mother’s blood is referred to as the fetal fraction or fetal fraction percentage. Some genetic material from the developing baby regularly passes through the placental membrane and enters the mother’s circulation throughout pregnancy. A  Fetal fraction NIPT test primarily analyzes this fetal DNA that differs from the mothers. One of the most crucial aspects of prenatal testing is checking for genetic abnormalities. Previously, invasive CVS and amniotic fluid testing were used.  With invasive methods, there is a chance that these tests will result in infection and miscarriages.

What Does Fetal Fraction Mean on NIPT?

Using a cell-free fetal DNA method, like noninvasive prenatal testing (NIPT), is a specific diagnostic for fetal aneuploidy. NIPT analyses maternal plasma by utilizing modern sequencing techniques. Fetal and maternal pieces are both present in cfDNA throughout pregnancy. The finding that mother plasma contains cell-free fetal DNA has revolutionized noninvasive prenatal screening. The fetal fraction is a significant factor when assessing the accuracy and dependability of the results in NIPT examinations. The fetal fraction NIPT technique is used to determine the sex of the growing baby. In addition to this, it also indicates any chromosomal abnormalities. 

What Is a Good Fetal Fraction?

The majority of medical professionals’ testing services and laboratory recommendations recommend a fetal fraction of 4% or more. To date, a significant number of studies have been conducted on the FF, albeit they have been dispersed. Consequently, FF requires a comprehensive assessment. From as low as 2% fetal fraction, as opposed to the 4% industry average. More pregnant women will be able to benefit from NIPT early in their pregnancies if it is possible to enhance the fetal proportion. This will assist in decreasing failure rates and produce more trustworthy NIPT findings. It is sufficient for accurate NIPT results, even though there is no widely agreed-upon ideal fetal fraction. 

Fetal Fraction NIPT Gender Accuracy

Since the fetal fraction NIPT testing service requires a smaller fetal percentage for chromosomal abnormality detection. Identifying fetal sex through NIPT fetal fraction is usually more accurate. Most laboratories use fetal fractions as low as between 2 and 4% to establish the sex of the fetus successfully. In contrast, larger fractions are recommended for greater confidence. When the percentage is higher or equal to 10%, there is a 99% chance that the identified sex is correct. The test is performed in the 10th week of pregnancy so that there is enough fetal material in the bloodstream.  A test called NIPT can be used to determine the gender of the fetus. When determining the sex of the fetus, NIPT has very good diagnostic accuracy. Testing after the seventh week of pregnancy yields more accurate findings than testing before the seventh week. 

How Much Fetal Fraction is Needed for NIPT?

When performing NIPT tests, it is crucial to ascertain the fetal fraction (FF), or the ratio of the amount of fetal cfDNA found in the plasma sample analyzed to the total cfDNA. This is because low FF quantities may result in undetectable aneuploidies and false negative results. Several NIPT techniques now in use use a cut-off of 4% of the fetal fraction to lower this danger. Because there is insufficient fetal DNA in samples with FF values below this cut-off, an inconclusive result is reported, and a new sample is needed. In labs, an FF of 2-4 percent is typically considered the minimum required to achieve reliable NIPS data.

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The meanings of exceptionally high and low FF vary, and validation trials are not utilized to ascertain the NIPT method’s effective Limit of Detection, that is, the lowest FF at which an aneuploidy may be detected. The fetal fraction less than the 4% limit required to report a result was established using a statistical model 2,4.  This also revealed that the prenatal test with FF higher than 2% may successfully detect the main chromosomal aneuploidies. Those with a low fetal fraction had a six-fold higher rate of aneuploidies compared to those with higher than 2 to 4 %.

Conclusion

The fetal fraction significantly influences the accuracy and dependability of NIPT testing. Expectant parents can more effectively interpret their NIPT results and make knowledgeable decisions regarding their prenatal care if they know this parameter’s relevance and the variables that may affect it. Choice DNA places a high value on giving its customers precise information so they fully understand the recent developments in fetal genetic testing. Our team of professionals is committed to helping you navigate NIPT’s complexities and ensuring you receive the information and assistance you require during your pregnancy journey.

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