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.

How accurate is genetic testing for trisomy 21?

First trimester screening correctly identifies about 85 percent of women who are carrying a baby with Down syndrome. About 5 percent of women have a false-positive result, meaning that the test result is positive but the baby doesn’t actually have Down syndrome.

How accurate is the blood test for Down syndrome?

First-trimester screening (nuchal translucency combined with the blood tests) correctly finds Down syndrome in 82 to 87 out of 100 fetuses who have it. This also means that these tests miss it in 13 to 18 out of 100 fetuses.

How common are false positives for Down syndrome?

Several large studies have confirmed that these cell-free DNA, or cfDNA, tests have a detection rate of 99 percent for Down syndrome, with a false-positive rate of as low as 0.1 percent.

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.

What do my NIPT results mean?

The test will look at specific chromosomes to see if the percentage of cfDNA from each of these chromosomes is considered “normal.” If it falls within the standard range, the result will be “negative.” This means the fetus has a decreased risk of the genetic conditions caused by the chromosomes in question.

What does a positive trisomy 21 mean?

enhanced First Trimester Screening: A screen positive result for trisomy 21 means that the chance that your pregnancy has trisomy 21 is higher than 1 in 350. Maternal Serum Screening: A screen positive result for trisomy 21 means that the chance that your pregnancy has trisomy 21 is higher than 1 in 200.

Can folic acid help prevent Down syndrome?

A new study suggests there might be a link between the Down syndrome and neural tube defects, and folic acid supplements may be an effective way to prevent both. Neural tube defects are caused by the abnormal development of the brain and spinal cord during early pregnancy.

How long does it take to get NIPT Results 2021?

Results from NIPT usually take about 8 to 14 days. You will get your result by a secure email message or a phone call when the result is ready.

What are the chances of having a baby with Down syndrome?

About 1 to 2 percent of people with Down syndrome have this type. Screening tests can identify women at increased risk of having a baby with Down syndrome. These tests have no risks of miscarriage, but can’t determine with certainty whether a fetus is affected.

What are first trimester screening tests for Down syndrome?

When used together as first trimester screening tests, nuchal translucency screening and maternal blood tests have a greater ability to determine if the fetus might have a birth defect, such as Down syndrome (trisomy 21) and trisomy 18. If the results of these first trimester screening tests are abnormal, genetic counseling is recommended.

What are the odds of a positive triple test for Down syndrome?

Algorithm for Down syndrome screening using the triple test results and a risk of 1/270 or higher. (LMP = last menstrual period) The triple test can detect 60 percent of trisomy 21 pregnancies; it has a false-positive rate of 5 percent. 11, 14 The likelihood of a fetus having trisomy 21 in a patient with a positive test is about 2 percent.

How is the risk of Down syndrome and trisomy 18 determined?

The results of the blood test, the nuchal translucency measurement and the mother’s age are used to estimate the risk for Down syndrome and trisomy 18. The second step is a maternal blood test between 15 to 20 weeks of pregnancy.