Smarter Decisions,
Better Care

UpToDate synthesizes the most recent medical information into evidence-based practical recommendations clinicians trust to make the right point-of-care decisions.

  • Rigorous editorial process: Evidence-based treatment recommendations
  • World-Renowned physician authors: over 5,100 physician authors and editors around the globe
  • Innovative technology: integrates into the workflow; access from EMRs

Choose from the list below to learn more about subscriptions for a:


Subscribers log in here


Chorionic villus sampling

INTRODUCTION

Chorionic villus sampling (CVS) refers to a procedure in which small samples of the placenta are obtained for prenatal genetic diagnosis, generally in the first trimester after 10 weeks of gestation. CVS results are available earlier in pregnancy than amniocentesis results, which provides privacy since the pregnancy has not begun to “show” and shortens the duration of anxiously waiting for information about the fetus. If the results lead to a decision to terminate the pregnancy, the termination can be performed at a gestational age when the procedure is more widely available and has lower risks than mid-second trimester termination procedures. However, CVS results have higher diagnostic uncertainty than amniocentesis and the procedure may be less safe than second trimester amniocentesis.

INDICATIONS

CVS enables prenatal diagnosis of any condition in which diagnostic cytogenetic, biochemical/molecular, or DNA analysis is possible. The most common reasons for prenatal genetic diagnosis include [1]:

Maternal age 35 years or older at estimated date of delivery

Previous child with a chromosome abnormality

Parent is a carrier of a balanced translocation or other structural chromosome disorder

                               

Subscribers log in here

To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information or to purchase a personal subscription, click below on the option that best describes you:
Literature review current through: Sep 2014. | This topic last updated: Jun 10, 2014.
The content on the UpToDate website is not intended nor recommended as a substitute for medical advice, diagnosis, or treatment. Always seek the advice of your own physician or other qualified health care professional regarding any medical questions or conditions. The use of this website is governed by the UpToDate Terms of Use ©2014 UpToDate, Inc.
References
Top
  1. Wapner RJ, Toy EC. Chorionic villus sampling. Chapter 24. fleischer_ch24%20(5).pdf (Accessed on March 14, 2014).
  2. Moise KJ Jr, Carpenter RJ Jr. Increased severity of fetal hemolytic disease with known rhesus alloimmunization after first-trimester transcervical chorionic villus biopsy. Fetal Diagn Ther 1990; 5:76.
  3. Ranzini AC, Wapner RJ, Davis GH. Ultrasonographically guided intrauterine contraceptive device removal before chorionic villus sampling. Am J Obstet Gynecol 1995; 173:603.
  4. Royal College of Obstetricians and Gynaecologists. Amniocentesis and Chorionic villus Sampling. Green top guideline No. 8, June 2010. http://www.rcog.org.uk/files/rcog-corp/GT8Amniocentesis0111.pdf (Accessed on March 14, 2014).
  5. Kuliev A, Jackson L, Froster U, et al. Chorionic villus sampling safety. Report of World Health Organization/EURO meeting in association with the Seventh International Conference on Early Prenatal Diagnosis of Genetic Diseases, Tel-Aviv, Israel, May 21, 1994. Am J Obstet Gynecol 1996; 174:807.
  6. Jackson LG, Zachary JM, Fowler SE, et al. A randomized comparison of transcervical and transabdominal chorionic-villus sampling. The U.S. National Institute of Child Health and Human Development Chorionic-Villus Sampling and Amniocentesis Study Group. N Engl J Med 1992; 327:594.
  7. Silver RK, MacGregor SN, Sholl JS, et al. Initiating a chorionic villus sampling program. Relying on placental location as the primary determinant of the sampling route. J Reprod Med 1990; 35:964.
  8. Brambati B, Terzian E, Tognoni G. Randomized clinical trial of transabdominal versus transcervical chorionic villus sampling methods. Prenat Diagn 1991; 11:285.
  9. Silver RK, MacGregor SN, Muhlbach LH, et al. A comparison of pregnancy loss between transcervical and transabdominal chorionic villus sampling. Obstet Gynecol 1994; 83:657.
  10. Chueh JT, Goldberg JD, Wohlferd MM, Golbus MS. Comparison of transcervical and transabdominal chorionic villus sampling loss rates in nine thousand cases from a single center. Am J Obstet Gynecol 1995; 173:1277.
  11. Smidt-Jensen S, Philip J, Zachary JM, et al. Implications of maternal serum alpha-fetoprotein elevation caused by transabdominal and transcervical CVS. Prenat Diagn 1994; 14:35.
  12. Mujezinovic F, Alfirevic Z. Analgesia for amniocentesis or chorionic villus sampling. Cochrane Database Syst Rev 2011; :CD008580.
  13. Young C, von Dadelszen P, Alfirevic Z. Instruments for chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev 2013; 1:CD000114.
  14. von Dadelszen P, Sermer M, Hillier J, et al. A randomised controlled trial of biopsy forceps and cannula aspiration for transcervical chorionic villus sampling. BJOG 2005; 112:559.
  15. Brown L, Abigania M, Warburton D, Brown S. Validation of QF-PCR for prenatal aneuploidy screening in the United States. Prenat Diagn 2006; 26:1068.
  16. Alfirevic Z, Sundberg K, Brigham S. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database Syst Rev 2003; :CD003252.
  17. Pergament E, Schulman JD, Copeland K, et al. The risk and efficacy of chorionic villus sampling in multiple gestations. Prenat Diagn 1992; 12:377.
  18. Wapner RJ, Johnson A, Davis G, et al. Prenatal diagnosis in twin gestations: a comparison between second-trimester amniocentesis and first-trimester chorionic villus sampling. Obstet Gynecol 1993; 82:49.
  19. Agarwal K, Alfirevic Z. Pregnancy loss after chorionic villus sampling and genetic amniocentesis in twin pregnancies: a systematic review. Ultrasound Obstet Gynecol 2012; 40:128.
  20. De Catte L, Liebaers I, Foulon W. Outcome of twin gestations after first trimester chorionic villus sampling. Obstet Gynecol 2000; 96:714.
  21. Eddleman KA, Stone JL, Lynch L, Berkowitz RL. Chorionic villus sampling before multifetal pregnancy reduction. Am J Obstet Gynecol 2000; 183:1078.
  22. Mujezinovic F, Alfirevic Z. Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review. Obstet Gynecol 2007; 110:687.
  23. Smidt-Jensen S, Permin M, Philip J, et al. Randomised comparison of amniocentesis and transabdominal and transcervical chorionic villus sampling. Lancet 1992; 340:1237.
  24. Medical Research Council European trial of chorion villus sampling. MRC working party on the evaluation pf chorion villus sampling. Lancet 1991; 337:1491.
  25. Lippman A, Tomkins DJ, Shime J, Hamerton JL. Canadian multicentre randomized clinical trial of chorion villus sampling and amniocentesis. Final report. Prenat Diagn 1992; 12:385.
  26. Borrell A, Fortuny A, Lazaro L, et al. First-trimester transcervical chorionic villus sampling by biopsy forceps versus mid-trimester amniocentesis: a randomized controlled trial project. Prenat Diagn 1999; 19:1138.
  27. van den Berg C, Van Opstal D, Brandenburg H, et al. Accuracy of abnormal karyotypes after the analysis of both short- and long-term culture of chorionic villi. Prenat Diagn 2000; 20:956.
  28. Papp C, Beke A, Mezei G, et al. Chorionic villus sampling: a 15-year experience. Fetal Diagn Ther 2002; 17:218.
  29. Scott F, Peters H, Boogert T, et al. The loss rates for invasive prenatal testing in a specialised obstetric ultrasound practice. Aust N Z J Obstet Gynaecol 2002; 42:55.
  30. Silver RK, MacGregor SN, Sholl JS, et al. An evaluation of the chorionic villus sampling learning curve. Am J Obstet Gynecol 1990; 163:917.
  31. Louis-Jacques A, Burans C, Robinson S, et al. Effect of commercial cell-free fetal DNA tests for aneuploidy screening on rates of invasive testing. Obstet Gynecol 2014; 123 Suppl 1:67S.
  32. Larion S, Mlynarczyk M, Romary L, et al. Differential effects of first-trimester screening programs on chorionic villus sampling. Obstet Gynecol 2014; 123 Suppl 1:63S.
  33. Turner AL, Rad S, Afshar Y, et al. Declining rate of invasive procedures for prenatal diagnosis in the era of noninvasive prenatal testing. Obstet Gynecol 2014; 123 Suppl 1:196S.
  34. Caughey AB, Hopkins LM, Norton ME. Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss. Obstet Gynecol 2006; 108:612.
  35. Rhoads GG, Jackson LG, Schlesselman SE, et al. The safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med 1989; 320:609.
  36. Hahnemann JM, Vejerslev LO. Accuracy of cytogenetic findings on chorionic villus sampling (CVS)--diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986-1992. Prenat Diagn 1997; 17:801.
  37. van den Berg C, Van Opstal D, Polak-Knook J, Galjaard RJ. (Potential) false-negative diagnoses in chorionic villi and a review of the literature. Prenat Diagn 2006; 26:401.
  38. Los FJ, van Den Berg C, Wildschut HI, et al. The diagnostic performance of cytogenetic investigation in amniotic fluid cells and chorionic villi. Prenat Diagn 2001; 21:1150.
  39. Nagan N, Faulkner NE, Curtis C, et al. Laboratory guidelines for detection, interpretation, and reporting of maternal cell contamination in prenatal analyses a report of the association for molecular pathology. J Mol Diagn 2011; 13:7.
  40. Taylor TH, Gitlin SA, Patrick JL, et al. The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans. Hum Reprod Update 2014; 20:571.
  41. Sikkema-Raddatz B, Bouman K, Verschuuren-Bemelmans CC, et al. Four years' cytogenetic experience with the culture of chorionic villi. Prenat Diagn 2000; 20:950.
  42. Stetten G, Escallon CS, South ST, et al. Reevaluating confined placental mosaicism. Am J Med Genet A 2004; 131:232.
  43. Phillips OP, Tharapel AT, Lerner JL, et al. Risk of fetal mosaicism when placental mosaicism is diagnosed by chorionic villus sampling. Am J Obstet Gynecol 1996; 174:850.
  44. Kalousek DK, Vekemans M. Confined placental mosaicism. J Med Genet 1996; 33:529.
  45. Wilkins-Haug L, Quade B, Morton CC. Confined placental mosaicism as a risk factor among newborns with fetal growth restriction. Prenat Diagn 2006; 26:428.
  46. Valentino LA, Mamonov V, Hellmann A, et al. A randomized comparison of two prophylaxis regimens and a paired comparison of on-demand and prophylaxis treatments in hemophilia A management. J Thromb Haemost 2012; 10:359.
  47. Neiswanger K, Hohler PM, Hively-Thomas LB, et al. Variable outcomes in mosaic trisomy 16: five case reports and literature analysis. Prenat Diagn 2006; 26:454.
  48. Kalousek DK, Howard-Peebles PN, Olson SB, et al. Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism. Prenat Diagn 1991; 11:743.
  49. Van Opstal D, Van den Berg C, Deelen WH, et al. Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy. Prenat Diagn 1998; 18:35.
  50. Mastroiacovo P, Botto LD, Cavalcanti DP, et al. Limb anomalies following chorionic villus sampling: a registry based case-control study. Am J Med Genet 1992; 44:856.
  51. Dolk H, Bertrand F, Lechat MF. Chorionic villus sampling and limb abnormalities. The EUROCAT Working Group. Lancet 1992; 339:876.
  52. Report of National Institute of Child Health and Human Development Workshop on Chorionic Villus Sampling and Limb and Other Defects, October 20, 1992. Am J Obstet Gynecol 1993; 169:1.
  53. Olney RS, Khoury MJ, Alo CJ, et al. Increased risk for transverse digital deficiency after chorionic villus sampling: results of the United States Multistate Case-Control Study, 1988-1992. Teratology 1995; 51:20.
  54. Firth H. Chorion villus sampling and limb deficiency--cause or coincidence? Prenat Diagn 1997; 17:1313.
  55. Firth HV, Boyd PA, Chamberlain PF, et al. Analysis of limb reduction defects in babies exposed to chorionic villus sampling. Lancet 1994; 343:1069.
  56. Brambati B, Lanzani A, Oldrini A. Transabdominal chorionic villus sampling. Clinical experience of 1159 cases. Prenat Diagn 1988; 8:609.
  57. Hogge WA, Schonberg SA, Golbus MS. Chorionic villus sampling: experience of the first 1000 cases. Am J Obstet Gynecol 1986; 154:1249.
  58. Katiyar R, Kriplani A, Agarwal N, et al. Detection of fetomaternal hemorrhage following chorionic villus sampling by Kleihauer Betke test and rise in maternal serum alpha feto protein. Prenat Diagn 2007; 27:139.
  59. Brambati B, Oldrini A, Ferrazzi E, Lanzani A. Chorionic villus sampling: an analysis of the obstetric experience of 1,000 cases. Prenat Diagn 1987; 7:157.
  60. Cederholm M, Haglund B, Axelsson O. Maternal complications following amniocentesis and chorionic villus sampling for prenatal karyotyping. BJOG 2003; 110:392.
  61. Minna T, Mika G, Tiina L, et al. Risk for placental abruption following amniocentesis and chorionic villus sampling. Prenat Diagn 2011; 31:410.
  62. Silver RK, Wilson RD, Philip J, et al. Late first-trimester placental disruption and subsequent gestational hypertension/preeclampsia. Obstet Gynecol 2005; 105:587.
  63. Adusumalli J, Han CS, Beckham S, et al. Chorionic villus sampling and risk for hypertensive disorders of pregnancy. Am J Obstet Gynecol 2007; 196:591.e1.
  64. Grobman WA, Auger M, Shulman LP, Elias S. The association between chorionic villus sampling and preeclampsia. Prenat Diagn 2009; 29:800.
  65. Odibo AO, Singla A, Gray DL, et al. Is chorionic villus sampling associated with hypertensive disorders of pregnancy? Prenat Diagn 2010; 30:9.
  66. Khalil A, Akolekar R, Pandya P, et al. Chorionic villus sampling at 11 to 13 weeks of gestation and hypertensive disorders in pregnancy. Obstet Gynecol 2010; 116:374.
  67. Schaap AH, van der Pol HG, Boer K, et al. Long-term follow-up of infants after transcervical chorionic villus sampling and after amniocentesis to compare congenital abnormalities and health status. Prenat Diagn 2002; 22:598.
  68. Cederholm M, Haglund B, Axelsson O. Infant morbidity following amniocentesis and chorionic villus sampling for prenatal karyotyping. BJOG 2005; 112:394.