Question: How accurate is the NIPT test for trisomy 13?

Results. The pooled clinical sensitivity of NIPT in the average-risk or general population was 99.5% (95% confidence interval [CI] 81.8%–99.9%) for trisomy 21, 93.1% (95% CI 75.9%–98.3%) for trisomy 18, and 92.7% (95% CI 81.6%–99.9%) for trisomy 13.

Can NIPT be wrong for trisomy 13?

High risk for trisomy 13

A false positive result means that although NIPT indicates a high risk of trisomy 13, the baby does not have this condition. The only way to provide a definitive diagnosis is to have a diagnostic procedure (CVS or amniocentesis) with chromosome testing.

How accurate is genetic testing for trisomy 13?

Pregnancies at increased risk for Trisomy 13 can be identified through screening tests such as non-invasive prenatal testing (NIPT) and ultrasound examinations. The diagnosis can be confirmed prenatally with better than 99% accuracy through chorionic villus sampling (CVS) or amniocentesis.

Can NIPT be wrong about Down syndrome?

NIPT is quite accurate for Down syndrome (99%) and for trisomy 18 (97%). It is less accurate for trisomy 13 (87%).

Can trisomy 13 be detected before birth?

Chromosome problems such as trisomy 13 or 18 can often be diagnosed before birth. This is done by looking at cells in the amniotic fluid or from the placenta (called chorionic villous sampling). This can also be done by looking at the amount of the baby’s DNA in the mother’s blood.

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What are good NIPT results?

Understanding what the NIPT test results mean

For the most accurate test results possible, the fetal fraction must be over 4 percent. This usually happens around the 10th week of pregnancy and this is why the test is recommended after this time.

What causes 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.

Is NIPT as accurate as amniocentesis?

NIPT is more accurate than CFTS, with very high sensitivity (99.3%) and specificity (99.9%) for trisomy 21. 4 5 NIPT is safer than invasive diagnostic techniques such as chorionic villus sampling and amniocentesis, which carry a miscarriage risk of 0.1%–0.2%.

What are the chances of having a baby with trisomy 13?

Trisomy 13 occurs in about 1 in 16,000 newborns. Although women of any age can have a child with trisomy 13, the chance of having a child with this condition increases as a woman gets older.

Has anyone had a false positive NIPT test?

Numerous studies have shown sensitivity rates for NIPT was approximately 99% with false positive rates below 1% and the positive predictive value is limited to 40% to 90%. The positive predictive values of NIPT for autosomes and sex chromosomes should be paid attention to.