Storage Instructions Maintain specimen at room temperature. Do not refrigerate or freeze . Use The test determines fetal karyotype. The test allows prenatal detection of chromosomal aneuploidy, especially trisomy 21 in groups of pregnant women at risk. Reasons include but are not limited to lack of amniocytes in the fluid, and contamination of the fluid with bacteria or yeast.
Most failures are due to an inappropriate biopsy containing only maternal decidua.
Prenatal diagnosis is possible for more than 1000 inherited diseases. Most are inherited in an autosomal recessive manner. Antenatal diagnosis using gene probes has become available for cystic fibrosis, muscular dystrophy, sickle cell anemia, hemophilia, and many other genetic abnormalities. This can be done from either cultured amniotic fluid cells or chorionic villous sampling.