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Prenatal Detection
Prenatal testing can be used to diagnose cri du chat syndrome. Chorionic vilus sampling and aminocentesis can be performed to determine if a fetus has the rare genetic disorder.
Amniocentesis is conducted after 15 weeks of pregnancy, and it is the procedure in which a long, thin needle is inserted into the uterus and a sample of amniotic fluid is removed. Cells in the fluid are then examined to detect for absence of part of chromosome 5. (Haldeman, 2013).
During chorionic villus sampling, performed between at the 9-14 week of pregnancy, a small amount of tissue from the placenta is extracted and then analyzed for the missing part of the fifth chromosome. (Haldeman, 2013).
How Common is This Disorder?
Cri du chat Syndrome is considered the most frequent deletion syndrome in humans. The disorder occurs on average, in 1:35,000 live births. However, since records of cri du chat syndrome are not kept in numerous countries, the accurate incidence is not known.The occurance appears to be the same in most countries, ethnic groups and regions. Scientists have yet to discover a single environmental factor implicated in the incidence of this syndrome. (Mainardi, 2013).