융모막 융모 샘플링 1,058예에 대한 임상 및 세포유전학 연구 : 21년(1984-2004년)간의 경험

Abstract

Objective: This study was performed to evaluate the feasibility, accuracy and safety of Chorionic Villus Sampling (CVS).

Methods: We analyzed the outcome of 1,058 cases of CVS performed for prenatal genetic diagnosis between 7 and 12 weeks of gestation in the outpatient prenatal genetic clinic in Yonsei University Medical Center (1,030 cases by trans-cervical method and 28 cases by trans-abdominal). Fetal Karyotyping was obtained by direct or indirect culture methods using Gimsa and Gimsa-Banding.

Results: Advanced maternal age was the most common indication for CVS (34.7%). The overall sampling success rate was 98% (1040/ 1,058), representing 92.5% in 7 to 8 weeks, 98.0% in 9 to 10 weeks, and 98.9% in 11 to 12weeks of gestation. The majority of cases (94.6%) required one or two aspirations. Cytogenetic analysis routinely included direct overnight and long-term culture methods, which revealed 27 chromosomal abnormalities (2.6%). Of 1,040 cases in which CVS were successful, 989 delivered normal baby, 23 resulted in fetal loss, 25 had therapeutic termination (24 with chromosome abnormalities and 1 with normal chromosome with huge myoma), and 3 with chromosome abnormalities were loss to follow up. The overall fetal loss rate was 2.2% (23/1,058). No congenital anomalies were found to be related to CVS in these series.

Conclusion: When performed by experienced operators and cytogeneticists beyond 9 weeks of gestation, CVS is a feasible, accurate and safe method for prenatal genetic diagnosis capable of replacing genetic amniocentesis.