A new qualitative study from RAPID has been published

A key goal of the RAPID Programme is to consider the views and experiences of service users. Dr Celine Lewis from Genetic AllianceUKhas led a qualitative study exploring the attitudes and opinions of women and partners who have had NIPD for fetal sex determination. The study found that opinions of NIPD were overwhelmingly positive; as well as the practical advantages of earlier testing and avoiding miscarriage, there were a number of psychological advantages such as perceived control, normalisation of pregnancy, peace of mind and facilitating decision making. A research paper describing this work has been published online in the European Journal of Human Genetics. Lewis C, Hill M, Skirton H, Chitty LS. Fetal sex determination using cell free fetal DNA: Service users’ experiences of and preferences for service delivery. European Journal of Human Genetics. Available online 28 March...

New RAPID publication

An editorial which explores the most recent developments in NIPD for aneuploidy has been published online in the American Journal of Obstetrics & Gynecology. The editorial addresses the key questions that need to be considered prior to the implementation of these tests into routine antenatal care. A preliminary economic analysis is included that incorporates the modelling of costs in the UK. In addition, options for care pathways and issues for education and counselling are discussed. Chitty LS, Hill M, White H, Wright D, Morris S. Non-invasive prenatal testing for aneuploidy – ready for prime time? Am J Obstet Gynecol. Available online 28 February...

Update: non-invasive prenatal testing for Down syndrome

A number of new studies looking at validating NIPD for Down syndrome and the other most common aneuploidies using massively parallel sequencing have been published.1-5 NIPD for aneuploidy has now begun to be offered overseas through some commercial providers in the USA, China and Hong Kong. These tests are NOT available in the UK at present. It is important to note that there is a small false positive rate with these tests which means that they are still considered an ‘advanced screening test’ that should be confirmed by invasive testing.6 References 1. Ashoor G, Syngelaki A, Wagner M, et al. Chromosome selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012. Epub ahead of print January 2012 2. Sparks AB, Struble CA, Wang ET, et al. Optimized non-invasive evaluation of fetal aneuploidy risk using cell-free DNA from maternal blood. Am J Obstet Gynecol. 2012. Epub ahead of print January 2012 3. Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynaecol. 2012. Epub ahead of print February 2012 4. Palomaki GE, Kloza EM, Lambert-Messerlian GMH, J.E., et al. DNA Sequencing of Maternal Plasma to Detect Down Syndrome: An International Clinical Validation. Genet Med. 2011; 13: 913-20 5. Palomaki GE, Deciu C, Kloza EM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med. 2012. 14:296-305 6. Benn P, Borrell A, Cuckle H, et al. Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid...