Thorp, John M., Jr. (2014). BJOG Editor's Choice: Whither the Amniocentisis?. BJOG: An International Journal of Obstetrics & Gynaecology, 121(5)
We are in the midst of a paradigm shift in prenatal diagnosis, with the discovery that fetal DNA can be isolated from maternal blood and used to not only assess karyotype, but do genome sequencing. This new technology, that is now commercially available in the developed world and actively marketed, makes our age-generated screening schemes, based on the loss rate of amniocentesis that created the magic cut-off of 35 years, obsolete. Now every mother is a candidate for testing and the fear of needles or CVS catheters invading one's body is no longer relevant. On page 582, Lewis and colleagues explore women's attitudes and thoughts to the paradigm shift. In over 1100 couples, all in early pregnancy, they found that 95% of respondents are favorably disposed to testing with 88% expressing a desire to participate. This favorable opinion and desire held true even in women who were ‘unlikely’ to terminate a pregnancy identified with Down syndrome. Clinicians in practice will need to upgrade their genetic counseling capacity as these conversations will shift from the MFM office prior to an invasive test to the midwife or obstetrician's office. Moreover, we will need to ponder and study how best to use this new information in couples who decline termination but desire foreknowledge with the notion that it might optimize their outcomes. Vigilance will be required to make sure we are providing informed consent prior to testing and avoiding unintended and harmful consequences such as sex selection.
BJOG: An International Journal of Obstetrics & Gynaecology
Thorp, John M., Jr.