What’s New in Fetal DNA Testing

It has long been the goal of obstetrics and genetics to be able to carry out non-invasive prenatal diagnosis and during the latter part of the last decade this has eventually started to become a reality. Since the 1970s, testing for both chromosomal abnormalities and for single gene disorders has been an invasive procedure carrying a small but finite risk to the fetus. Amniocentesis, performed at around 14–16 weeks of pregnancy, and chorionic villous sampling, performed during the first trimester, both carry a risk of miscarriage of 1% and 1–2%, respectively.