Is This a Genesis in Prenatal Testing: Genomic Knowledge, Risk or Benefit?

摘要

Ten fingers and ten toes was all that used to matter. Now in the genomic era, we have more to go on than just digits. It is theoretically possible for expectant parents to receive the whole genome sequence of the fetus in the course of prenatal screening. This has been done by using cell-free DNA in maternal plasma at 18.5 weeks with the saliva of the father (Kitzman el ah, 2012). Current methods of invasive prenatal testing detect aneuploidies and specifically targeted mutations.