Chorionic villus sampling

Chorionic villus sampling is an invasive procedure in the fi rst trimester prenatal diagnosis of chromosomal and genetic disorders. Besides amniocentesis, it is the most commonly used invasive technique, and it is routinely performed in most of tertiary medical centers. As a procedure that is used for prenatal diagnosis in the fi rst trimester of pregnancy, it is a preferred technique in cases with a high risk of chromosomal abnormalities, in cases with maternal anxiety due to previous pregnancy with chromosomal aberration, and in couples with a family history of genetic or metabolic disorders of known genetic origin and a high risk of having an aff ected child. Getting results early in pregnancy is of huge importance for at risk couples due to reduction of anxiety, having more time to make decisions about their pregnancy, and fi nally getting an opportunity for early pregnancy termination.

Keywords: chorionic villi sampling; chromosome disorders; prenatal diagnosis; mosaicism
Category: Review
Volume: Vol. 57, No 4, october - december 2013
Authors: Ana Vičić, Feodora Stipoljev
Reference work: Paediatr Croat. 2013;57:374-81

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