New non-invasive prenatal diagnostic test developed at Stanford University

A number of research groups around the world are working on non-invasive methods of prenatal diagnosis of foetal aneuploidies - irregular chromosome counts. Some are closer to clinical implementation than others. Non-invasive diagnostic tests aim to eliminate the uncertainties of current screening procedures that do not give a definitive diagnosis. A new test is reported in the US this week.

Researchers at Stanford University (California), led by Prof Stephen Quake have announced a new prenatal diagnostic procedure that can detect extra chromosomes (such as the extra copy of chromosome 21 present in babies with Down syndrome), from a maternal blood sample. The test is much safer and less traumatic for both mothers and babies, and will be less costly.

The current study includes a small number of participants, and needs to be repeated in much larger numbers. The researchers expect this particular method to be available clinically within 2 - 3 years.

News of the study is reported locally by News Limited here. A BBC TV news item 6th OCtober 2008) about the new tests, and implications for families can be viewed here.

The Stanford University media release is available here, and the full text of the research report is available to download from this week's edition of the Proceedings of the National Academy of Science (early edition, October 6, 2008), here.

Reference to the research report:
H. Christina Fan, Yair J. Blumenfeld, Usha Chitkara, Louanne Hudgins, and Stephen R. Quake, Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood, PNAS published October 6, 2008, doi:10.1073/pnas.0808319105

Earlier posts about prenatal tesing:

• Life enriched by care (7 June, 2008)
• New UK research into informed choice (11th July 2008)
• Some of the challenges of prenatal testing (22nd July 2008)
• New website offers information at diagnosis of Down syndrome (5 August, 2008)
• UK article highlights lives lost through prenatal testing (21 September, 2008)
• UK article highlights lives lost through prenatal testing (21 September, 2008)