J Genet Med.  2011 Jun;8(1):35-43. 10.5734/JGM.2011.8.1.35.

Ten-year Clinical Study of Chorionic Villus Sampling

• Kim SH
• Shim SH
• Baek JW
• Cha DH

• KMID: 1851089
• DOI: http://doi.org/10.5734/JGM.2011.8.1.35

Abstract

PURPOSE
We evaluated indications for chorionic villus sampling (CVS), the positive predictive value of CVS for fetal chromosomal abnormalities, and the fetal loss rate after CVS at CHA Medical Center.
MATERIALS AND METHODS
We reviewed the medical records of 511 cases of CVS performed between 67 and 120 days of gestation for prenatal cytogenetic diagnosis from April 2000 to April 2010. Fetal karyotypes were obtained by direct and indirect culture methods.
RESULTS
The most common indications for CVS were abnormal ultrasonic findings including increased nuchal translucency (294/635, 46.3%). The positive predictive value of abnormal karyotyping according to indication for CVS was highest in cases with abnormal parental karyotypes (14/21, 66.7%). Mosaicism revealed by CVS comprised 3.1% of the sample (16/509). Amniocentesis revealed two cases of true mosaicism and 11 cases of confined placental mosaicism. The fetal loss rate within 4 weeks of the procedure was 1.2% (6/511).
CONCLUSION
If CVS is performed by an expert clinician, it is a feasible and reliable procedure for prenatal genetic diagnosis. When CVS indicates mosaicism, the finding should be confirmed by amniocentesis to distinguish true mosaicism from confined placental mosaicism.

Keyword

Chorionic villus sampling; Prenatal genetic diagnosis

MeSH Terms

Amniocentesis
Chorion
Chorionic Villi
Chorionic Villi Sampling
Chromosome Aberrations
Cytogenetics
Female
Humans
Karyotype
Karyotyping
Medical Records
Mosaicism
Nuchal Translucency Measurement
Parents
Pregnancy
Ultrasonics