Chorionic villus sampling

• 발행기관: 대한의학유전학회
• 저자명: Soon Sup Shim
• 간행물 정보: 『대한의학유전학회지』제11권 제2호, 43~48쪽, 전체 6쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2014.12.30

영문 초록

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.

목차

Abstract

Introduction

Counseling for Aneuploidy Screening or Invasive Diagnostic Testing

Procedures

Laboratory Aspects

Mosaicism

Safety

Noninvasive Prenatal Testing and Chorionic Villus Sampling

References

키워드

Chorionic villus sampling (CVS)