References
- Nicolaides KH, Heath V, Liao AW. The 11–14 week scan. Baillieres Best Pract Res Clin Obstet Gynaecol 2000;14:581–94.
- Nicolaides KH, Heath V, Cicero S. Increased fetal nuchal translucency at 11–14 weeks. Prenat Diagn 2002;22:308–15.
- Cicero S, Sacchini C, Rembouskos G, Nicolaides KH. Sonographic markers of fetal aneuploidy–a review. Placenta 2003;24:S88–98.
- Atzei A, Gajewska K, Huggon IC, et al. Relationship between nuchal translucency thickness and prevalence of major cardiac defects in fetuses with normal karyotype. Ultrasound Obstet Gynecol 2005;26:154–7.
- Nicolaides KH, Wegrzyn P. Fetal nuchal translucency thickness and risk for chromosomal defects. Ginekol Pol 2005;76:257–63.
- Karagiannis G, Akolekar R, Sarquis R, et al. Prediction of small-for-gestation neonates from biophysical and biochemical markers at 11-13 weeks. Fetal Diagn Ther 2011;29:148–54.
- Leung TY, Vogel I, Lau TK, et al. Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype. Ultrasound Obstet Gynecol 2011;38:314–19.
- Liao C, Li R, Fu F, et al. Prenatal diagnosis of congenital heart defect by genome-wide high-resolution SNP array. Prenat Diagn 2014;34:858–63.
- Kan AS, Lau ET, Tang WF, et al. Whole-genome array CGH evaluation for replacing prenatal karyotyping in Hong Kong. PLoS One 2014;9:e87988.
- Kearney HM, Thorland EC, Brown KK, et al. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med 2011;13:680–5.
- Riggs ER, Church DM, Hanson K, et al. Towards an evidence-based process for the clinical interpretation of copy number variation. Clin Genet 2012;81:403–12.
- Firth HV, Richards SM, Bevan AP, et al. DECIPHER: database of chromosomal imbalance and phenotype in humans using ensembl resources. Am J Hum Genet 2009;84:524–33.
- Edelmann L, Hirschhorn K. Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies. Ann NY Acad Sci 2009;1151:157–66.
- Bartholdi D, Miny P. Genetic testing in the fetus and child. Ther Umsch 2013;70:621–31.
- de Wit MC, Srebniak MI, Govaerts LC, et al. Additional value of prenatal genomic array testing in fetuses with isolated structural ultrasound abnormalities and a normal karyotype: a systematic review of the literature. Ultrasound Obstet Gynecol 2014;43:139–46.
- Schou KV, Kirchhoff M, Nygaard U, et al. Increased nuchal translucency with normal karyotype: a follow-up study of 100 cases supplemented with CGH and MLPA analyses. Ultrasound Obstet Gynecol 2009;34:618–22.
- Huang J, Poon LC, Akolekar R, et al. Is high fetal nuchal translucency associated with submicroscopic chromosomal abnormalities on array CGH? Ultrasound Obstet Gynecol 2014;43:620–4.