01/03/2021
SAFETY OF GENETIC TESTING
Amniocentesis was first attempted in the mid- 1960s and only for the highest risk situations. Procedure complication rates were estimated at about 2% or more. There was no ultrasound available to guide. Palpation of the abdomen was used to try to determine the position of the fetus to place the needle elsewhere. Considerable skill was required to be able to feel in the operator’s fingers the density gradients as one passed the needle through different tissue levels until resistance gave way as the needle entered the fluid of the amniotic cavity.
In the 1980s as ultrasound guidance became feasible and a cadre of physicians who specialized in such procedures emerged, the safety and accuracy of amniocentesis increased. Simultaneously, chorionic villus sampling (CVS) began as a 1st trimester alternative which had the major advantage of privacy as the procedure was done a full month earlier and results came back quicker. At the beginning, I had one of only 15 FDA granted investigational device exemptions to test the CVS catheters. In 1990, the FAD granted approval for routine use. Utilization of CVS in experienced centers such as mine, then in Detroit, dramatically increased approaching 50% of all procedures. In the early 90s there were concerns raised about a possible association of limb reduction defects, but these were disproven.
In experienced hands, CVS and amniocentesis are both very safe procedures and equally so. The attributable procedure risk is in the 1/800 to 1/1000 over the normal background rate of loss. The real debate that patients should be having is whether they are happy with an odds adjustment (Gallop poll) – as comes from screening procedures like NIPT or diagnostic ones (election results) from CVS or amnio. Since the 2 procedures are equally safe, early answers and privacy have many advantages.