What can affect NIPT results?

What can affect NIPT results?

Contributing fetal factors include insufficient or absent fetal fraction, fetoplacental mosaicism, and the presence of a vanishing twin. In some pregnant women that test positive for NIPT, multiple chromosome aneuploidy has been reported as a result of suspected malignancy, and cancer has been found.

Can NIPT results be wrong?

Many factors may contribute to false positive and false negative NIPT results, including placental mosaicism, maternal copy number variations, maternal malignancy, vanishing twin, and technical, bioinformatics, or human errors.

How often is NIPT abnormal?

The screening has a detection rate of above 99 percent for the three most common chromosome abnormalities, trisomy 21, trisomy 18, and trisomy 13. The false-positive rate is well under 1 percent.

What is considered high risk for NIPT?

NIPT has only been adequately evaluated in singleton pregnancies at high risk for chromosomal abnormalities (maternal age >35, positive screening, sonographic findings suggestive of aneuploidy, translocation carrier at increased risk for trisomy 13, 18, or 21, or prior pregnancy with a trisomy 13, 18, or 21).

What can cause false positive NIPT?

CPM is the most common cause of false-positive NIPT results and occurs more frequently for trisomy 13 and monosomy X than it does for either trisomy 18 or trisomy 21 (3). To help address this problem, VCGS calculates a mosaicism score on every trisomic sample called.

What do I do if my NIPT test is positive?

If the result is ‘positive’, ‘abnormal’ or ‘high risk’, this means your baby is likely to be affected. If you have an abnormal NIPT result, a diagnostic test such as CVS or amniocentesis can confirm the result. You should discuss your options with your doctor, midwife or genetic counsellor.

What is considered low risk for Down syndrome?

The cut off is 1 in 150. This means that if your screening test results show a risk of between 1 in 2 to 1 in 150 that the baby has Down’s syndrome, this is classified as a higher risk result. If the results show a risk of 1 in 151 or more, this is classified as a lower risk result.

What should fetal fraction be at 12 weeks?

In Caucasian women, at 12 weeks’ gestation (CRL, 65 mm), the median fetal fraction decreased with maternal weight from 11.7% at 60 kg to 3.9% at 160 kg (Figure 2), and the estimated proportion with fetal fraction below 4% increased from 0.7% at 60 kg to 51.1% at 160 kg (Table 3).

What causes false positive NIPT?

What does NIPT stand for in genetics?

From Genetics Home Reference. Learn more Noninvasive prenatal testing (NIPT), sometimes called noninvasive prenatal screening (NIPS), is a method of determining the risk that the fetus will be born with certain genetic abnormalities. This testing analyzes small fragments of DNA that are circulating in a pregnant woman’s blood.

What is noninvasive prenatal testing (NIPT)?

Noninvasive prenatal testing (NIPT) is a screening test that can be performed early in your pregnancy. Here’s what you should know about what this test looks for, how it’s done, and how to interpret the results. What Is NIPT?

Why is my NIPT test result so inaccurate?

There is another possible reason for inaccurate NIPT results: cell-free fetal DNA comes from the placenta, and there are sometimes “cell lines” that grow in the placenta but not in the baby.

What is the NIPT test for Down syndrome?

NIPT (also called prenatal cell-free DNA screening) is a screening test that estimates the risk that your baby will be born with a genetic abnormality, including Down syndrome. NIPT analyzes fragments of the baby’s DNA found circulating in a pregnant person’s blood. 1 DNA is usually located within cells.