Donald School Journal of Ultrasound in Obstetrics and Gynecology

Register      Login

VOLUME 5 , ISSUE 2 ( April-June, 2011 ) > List of Articles


Ultrasound-Guided Invasive Procedures in Genetic Prenatal Diagnostics

Miroslaw Wielgos, Piotr Wegrzyn

Keywords : Invasive procedure,Karyotyping,Chorionic villus sampling,Amniocentesis,Fetal blood sampling

Citation Information : Wielgos M, Wegrzyn P. Ultrasound-Guided Invasive Procedures in Genetic Prenatal Diagnostics. Donald School J Ultrasound Obstet Gynecol 2011; 5 (2):137-139.

DOI: 10.5005/jp-journals-10009-1189

License: CC BY-NC 4.0

Published Online: 01-03-2012

Copyright Statement:  Copyright © 2011; The Author(s).


There is a wide range of noninvasive screening methods that aim to identify the subgroup of fetuses that are in a high risk of chromosomal defects. Invasive procedures should be offered to women in the high-risk group identified with the highest possible detection rate and the lowest false-positive rate.

The method of choice at 11 + 0 - 13 + 6 weeks is chorionic villus sampling. An early amniocentesis is much more dangerous and should be abandoned. CVS should be performed not earlier than at 11 + 0 weeks of pregnancy. Amniocentesis should be performed no earlier that at 15 + 0 weeks. Earlier procedure is associated with significantly higher rate of talipes equinovarius, amniotic fluid leakage and miscarriage. The umbilical cord insertion is a preferable site for fetal blood sampling. Care must be taken to distinguish between the vein and the artery, and the vein must be sampled, not the artery.

The operator's experience is very important issue. It has been postulated that to achieve a reasonable experience one should perform a minimum of 100 chorionic villus samplings, and a reasonable number of invasive procedures should be performed yearly.

PDF Share
  1. Prenatal screening for open neural tube defect and Down's syndrome. In: Rodeck CH, Whittle MJ (Eds). Fetal Medicine: Basic Science and Practice 243-64.
  2. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn Jan 2011;31(1):7-15.
  3. Amniocentesis and chorionic villus sampling for prenatal diagnosis. Cochrane Database System Rev 2003;issue 3, Art No CD003252.
  4. Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet 1986;1: 1287-93.
  5. Comparison of chorionic villus sampling and amniocentesis for fetal karyotyping at 10-13 weeks’ gestation. Lancet 1994;344: 435-39.
  6. What is the real loss rate from invasive testing? 20th World Congress on Ultrasound in Obstetrics and Gynecology 10-14 October 2010, Prague, Czech Republic.
  7. Invasive diagnostic procedures. In: Rodeck CH, Whittle MJ (Eds). Fetal Medicine: Basic Science and Practice 292-304.
  8. Teaching ultrasound-guided invasive procedures in fetal medicine: Learning curves with and without an electronic guidance system. Ultrasound Obstet Gynecol 2002;19:274-77.
  9. Who should be allowed to perform amniocentesis and chorionic villus sampling? Ultrasound Obstet Gynecol 2009;34:12-13.
  10. Report from a working commission ‘Prenatal diagnosis and risk assessment’ Copenhagen 2003.
  11. Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 2010;27:1-7.
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.