J Genet Med.  2014 Dec;11(2):43-48. 10.5734/JGM.2014.11.2.43.

Chorionic villus sampling

• Shim SS

• KMID: 2184492
• DOI: http://doi.org/10.5734/JGM.2014.11.2.43

Abstract

Chorionic villus sampling has gained importance as a tool for early cytogenetic diagnosis with a shift toward first trimester screening. First trimester screening using nuchal translucency and biomarkers is effective for screening. Chorionic villus sampling generally is performed at 10-12 weeks by either the transcervical or transabdominal approach. There are two methods of analysis; the direct method and the culture method. While the direct method may prevent maternal cell contamination, the culture method may be more representative of the true fetal karyotype. There is a concern for mosaicism which occurs in approximately 1% of cases, and mosaic results require genetic counseling and follow-up amniocentesis or fetal blood sampling. In terms of complications, procedure-related pregnancy loss rates may be the same as those for amniocentesis when undertaken in experienced centers. When the procedure is performed after 9 weeks gestation, the risk of limb reduction is not greater than the risk in the general population. At present, chorionic villus sampling is the gold standard method for early fetal karyotyping; however, we anticipate that improvements in noninvasive prenatal testing methods, such as cell free fetal DNA testing, will reduce the need for invasive procedures in the near future.

Keyword

Chorionic villus sampling (CVS)

MeSH Terms

Amniocentesis
Biomarkers
Chorionic Villi Sampling*
Cytogenetics
Diagnosis
DNA
Extremities
Female
Fetal Blood
Genetic Counseling
Humans
Karyotype
Karyotyping
Mass Screening
Mosaicism
Nuchal Translucency Measurement
Pregnancy
Pregnancy Trimester, First
DNA