It is now possible to detect fetal problems with just a sample of the pregnant woman’s blood. Women will probably be offered this test routinely in the first trimester. But the breakthroughs are said to raise serious ethical questions.
In 2008 Fan et al. (Proc. Natl Acad. Sci.USA 2008; 105:16266–16271) non-invasively diagnosed fetal chromosome abnormality from cell-free DNA in maternal blood. Recently, at least two companies have announced plans to introduce non-invasive prenatal diagnosis (NIPD) into health care.
The clinical role of NIPD is unclear. It could be used either as a screening test (with CVS or amniocentesis still required as a follow up diagnostic test) or it might replace invasive tests. Less likely, it might be interposed between current screening and invasive tests.
The most exciting, and potentially controversial, role of NIPD is if it can replace current invasive tests. Prenatal (cyto)genetic diagnosis could be achieved much earlier in pregnancy.
Read More »Should early non invasive prenatal testing be opposed?