Commentary on sickle cell non‐invasive prenatal testing article.

In a seminal Lancet paper published in 1997, Dennis Lo, a clinical biochemist from Hong Kong working in Oxford with Jim Wainscoat, defined a technique that would transform the future of prenatal diagnosis (PND). This made it possible to simply collect a blood sample from a pregnant woman and identify unique fetal DNA characteristics from it, without needing invasive PND, which carries a 0-5-1% risk of miscarriage. To identify a fetal-origin point mutation from a sea of maternal DNA, 50% of which contain the same mutation, made it impossible to diagnose fetal disease without having access to DNA material from the father or siblings. [Extracted from the article]