Can CVS detect mosaic Down syndrome?

How accurate is CVS? With CVS you have a 98 to 99 percent chance of getting accurate results and a 1 to 2 percent chance of unclear results. This is called a confined placental mosaicism, in which some of the cell lines cultured from the placenta contain abnormal chromosomes and some are normal.

How accurate is CVS test for Down syndrome?

CVS is considered to be 98% accurate in the diagnosis of chromosomal defects. The procedure also identifies the sex of the fetus, so it can identify disorders that are linked to one sex (such as certain types of muscular dystrophy that occur most often in males).

How accurate is FISH test for Down syndrome?

Interphase FISH for detection of the common aneuploidies misses about 30% of all chromosome abnormalities detectable by standard cytogenetics even with 100% accuracy of the test.

How common is the detection of mosaic aneuploidy on CVS?

Although fetus and placenta originate from the same zygote, a discrepancy between the chromosomal constitution of cells in the placenta and cells in the fetus, known as chromosomal mosaicism, can occur. Such mosaicisms are well documented in the literature and are detected in 1% to 2% of the CVS.

What is a good result for Down syndrome test?

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.

How do I know if my child has mosaic Down syndrome?

To confirm mosaic Down syndrome, doctors will analyze chromosomes from 20 cells. If 5 cells have 46 chromosomes and 15 have 47 chromosomes, a baby has a positive mosaic Down syndrome diagnosis.

Can CVS detect placental mosaicism?

Confined placental mosaicism (CPM) can prenatally be detected with chorionic villus sampling (CVS) and noninvasive prenatal testing (NIPT). Chromosomally abnormal cells may be restricted to a small part of the placenta.

Is CVS 100% accurate?

CVS testing is about 99% accurate. But CVS testing does not detect how severe the condition is.

Does FISH detect mosaicism?

FISH analysis using X and Y probes can successfully identify low level sex chromosome mosaicism in many patients with a 45,X G-banded karyotype and when detected can play a key role in patient care and management.

How do I read my FISH test results?

How your doctor interprets this test is as follows:

1. A result of 0 is negative.
2. A result of 1+ is also negative.
3. A result of 2+ is considered equivocal (uncertain).
4. A result of 3+ is positive.

Is CVS better than amniocentesis?

Amniocentesis is better than CVS for some women. You should have amniocentesis if you have had a baby with a neural tube defect, such as spina bifida, or if you or your partner has a neural tube defect. CVS does not test for these problems. Amniocentesis may be better if the results of other tests have not been normal.

What does a CVS test tell you?

Chorionic villus sampling can reveal whether a baby has a chromosomal condition, such as Down syndrome, as well as other genetic conditions, such as cystic fibrosis.