American Association for Clinical Chemistry
Better health through laboratory medicine
April 2011 Clinical Laboratory News: Additional References on Carrier and Prenatal Screening Studies

For Further Information:

Bell CJ, Dinwiddie DL, Miller NA, Hateley SL, et al. Carrier Testing for Severe Childhood Recessive Diseases by Next Generation Sequencing. Sci Transl Med 2011;3:65ra4.

Chiu RWK, Akolekar R, Zheng YWL, Leung TY, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ;2011:342:c7401.

Chiu RWK, Chan KCA, Gao Y, Lau VYM, et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. NAS;2008;105:20458-63.

Chiu RWK, Lo YMD. Non-invasive prenatal diagnosis by fetal nucleic acid analysis in maternal plasma: the coming of age. Semin Fetal Neonatal Med 2011;16:88-93.

Ehrich M, Deciu C, Zwiefelhofer T, Tynan J, et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 2011;205.e1-11.

Lo YMD, Chan KCA, Sun H, Chen EZ, et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med. 2010;61:61ra91.

Lo, YMD, Chiu RWK. Noninvasive approaches to prenatal diagnosis of hemoglobinopathies using fetal DNA in maternal plasma. Hematol Oncol Clin N Am 2010;24:1179-1186.

Tsui NBY, Kadir RA, Chan KCA, Chi C, et al. Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood doi:10.1182/blood-2010-10-310789.

Zimmermann BG, Grill S, Holzgreve W, Zhong XY, et al. Digital PCR: a powerful new tool for noninvasive prenatal diagnosis? Prenat Diagn 2008;28:1087-93.