References
- Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 2011; 31:7–15.
- Leung TY, Chan LW, Law LW, Sahota DS, Fung TY, Leung TN, Lau TK. First trimester combined screening for Trisomy 21 in Hong Kong: outcome of the first 10,000 cases. J Matern Fetal Neonatal Med 2009;22:300–304.
- Susanne GO, Sissel S, Ulla W, Charlotta G, Sonja OL. Pregnant women’s responses to information about an increased risk of carrying a baby with Down syndrome. Birth 2006;33:64–73.
- Lo YM, Corbetta N, Chamberlain PF, Rai V, Sargent IL, Redman CW, Wainscoat JS. Presence of fetal DNA in maternal plasma and serum. Lancet 1997;350:485–487.
- Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, Lu V, 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;204:205.e1–205.11.
- Sehnert AJ, Rhees B, Comstock D, de Feo E, Heilek G, Burke J, Rava RP. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem 2011;57:1042–1049.
- Lau TK, Chen F, Pan X, Pooh RK, Jiang F, Li Y, Jiang H, et al. Noninvasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing. J Matern Fetal Neonatal Med 2012. [Epub ahead of print]
- Chen EZ, Chiu RW, Sun H, Akolekar R, Chan KC, Leung TY, Jiang P, et al. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS ONE 2011;6:e21791.
- Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, 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.
- Tischler R, Hudgins L, Blumenfeld YJ, Greely HT, Ormond KE. Noninvasive prenatal diagnosis: pregnant women’s interest and expected uptake. Prenat Diagn 2011;31:1292–1299.
- Leung TY, Vogel I, Lau TK, Chong W, Hyett JA, Petersen OB, Choy KW. Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype. Ultrasound Obstet Gynecol 2011;38:314–319.
- Benn P, Borrell A, Cuckle H, Dugoff L, Gross S, Johnson JA, Maymon R, Odibo A, Schielen P, Spencer K, Wright D, Yaron Y. Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011. Prenat Diagn 2012; 24:1–2.