Chromosomal microarray in fetuses with increased nuchal translucency

Ultrasound in Obstetrics and Gynecology

Volumn 45, Issue 1, 2015, Pages 95-100

  Lund, I C B ^a   Christensen, R ^a   Petersen, O B ^a   Vogel, I ^a   Vestergaard, E M ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Array comparative genomic hybridization; Chromosomal microarray; Genomic imbalance; Nuchal translucency; Prenatal diagnosis

Indexed keywords

DOWN SYNDROME; EMBRYOLOGY; EVALUATION STUDY; FEMALE; FIRST TRIMESTER PREGNANCY; GENETICS; HIGH RISK PREGNANCY; HUMAN; NUCHAL TRANSLUCENCY MEASUREMENT; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES; PROSPECTIVE STUDY; REPRODUCIBILITY;

DOWN SYNDROME; FEMALE; HUMANS; NUCHAL TRANSLUCENCY MEASUREMENT; POLYMERASE CHAIN REACTION; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PREGNANCY, HIGH-RISK; PRENATAL DIAGNOSIS; PROSPECTIVE STUDIES; REPRODUCIBILITY OF RESULTS;

EID: 84920861342     PISSN: 09607692     EISSN: 14690705     Source Type: Journal    
DOI: 10.1002/uog.14726     Document Type: Article

References (21)

1. Äyräs O, Tikkanen M, Eronen M, Paavonen J, Stefanovic V. Increased nuchal translucency and pregnancy outcome: retrospective study of 1063 consecutive singleton pregnancies in a single referral institution. Prenat Diagn 2013; 33: 856-862.
2. Souka AP, von Kaisenberg CS, Hyett JA, Sonek JD, Nicolaides KH. Increased nuchal translucency with normal karyotype. Am J Obstet Gynecol 2005; 192: 1005-1021.
3. Bilardo CM, Timmerman E, Pajkrt E, van Maarle M. Increased nuchal translucency in euploid fetuses - what should we be telling the parents? Prenat Diagn 2010; 30: 93-102.
4. Bakker M, Pajkrt E, Bilardo CM. Increased nuchal translucency with normal karyotype and anomaly scan: What next? Best Pract Res Clin Obstet Gynaecol 2014; 28: 355-366.
5. Petersen OB, Vogel I, Ekelund C, Hyett J, Tabor A, the Danish Fetal Medicine Study Group and the Danish Clinical Genetics Study Group. Potential diagnostic consequences of applying non-invasive prenatal testing: population-based study from a country with existing first-trimester screening. Ultrasound Obstet Gynecol 2014; 43: 265-271.
6. Hillman SC, Pretlove S, Coomarasamy A, McMullan DJ, Davison EV, Maher ER, Kilby MD. Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 2011; 37: 6-14.
7. Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachery JM, Savage M, Lawrence DP, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012; 367: 2175-2184.
8. De Wit MC, Srebniak MI, Govaerts LCP, van Opstal D, Galjaard RJH, Go ATJI. 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; 43:139-146.
9. Vestergaard EM, Christensen R, Petersen OB, Vogel I. Prenatal diagnosis: array comparative genomic hybridization in fetuses with abnormal sonographic findings. Acta Obstet Gynecol Scand 2013; 92: 762-768.
10. 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.
11. Shaffer LG, Rosenfeld JA, Dabell MP, Coppinger J, Bandholz AM, Ellison JW, Ravnan JB, Torchia BS, Ballif BC, Fisher AJ. Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound. Prenat Diagn 2012; 32: 986-995.
12. Faas BHW, Feenstra I, Eggink AJ, Kooper AJA, Pfundt R, van Vugt JMG, de Leeuw N. Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience. Prenat Diagn 2012; 32: 362-370.
13. Scott F, Murphy K, Carey L, Greville W, Mansfield N, Barahona P, Robertson R, McLennan A. Prenatal diagnosis using combined quantitative flourescent polymerase chain reaction and array comparative genomic hybridization analysis as a first line test: results from over 1000 consecutive cases. Ultrasound Obstet Gynecol 2013; 41: 500-507.
14. Rooryck C, Toutain J, Cailley D, Bouron J, Horovitz J, Lacombe D, Arveiler B, Saura R. Prenatal diagnosis using array-CGH: A French experience. Eur J Med Genet 2013; 56: 341-345.
15. Hillman SC, McMullan DJ, Hall G, Togneri FS, James N, Maher EJ, Meller CH, Williams D, Wapner RJ, Maher ER, Kilby MD. Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis. Ultrasound Obstet Gynecol 2013; 41: 610-620.
16. Huang J, Poon LC, Akolekar R, Choy KW, Leung TY, Nicolaides KH. Is high fetal nuchal translucency associated with submicroscopic chromosomal abnormalities on array CGH? Ultrasound Obstet Gynecol 2014; 43: 620-624.
17. Danish Fetal Medicine Database. http://www.dfms.dk/cms/index.php/fagligt/db [Accessed 8 September 2014].
18. Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med 2011; 13: 680-685.
19. Mefford HC, Cooper GM, Zerr T, Smith JD, Baker C, Shafer N, Thorland EC, Skinner C, Schwartz CE, Nickerson DA, Eichler EE. A method for rapid targeted CNV genotyping identifies rare variants associated with neurocognitive disease. Genome Res 2009; 19: 1579-1585.
20. Firth HV. 22q11.2 Duplication. 2009 Feb 17 [Updated 2013 Nov 21]. In: Pagon RA, Adam MP, Ardinger HH, et al. (eds). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK3823/?report=classic [Accessed 8 September 2014].
21. Orpha.net: the portal for rare diseases and orphan drugs. Recessive X-linked ichthyosis. http://www.orpha.net/consor/cgi-bin/Disease-Search.php?lng=EN&data-id=42&Disease-Disease-Search-diseaseGroup=Steroid-sulfatase-deficiency&Disease-Disease-Search-diseaseType=Pat&Disease(s)/groupofdiseases=Recessive-X-linked-ichthyosis-Steroid-sulfatase-deficiency-&title=Recessive-X-linked-ichthyosis-Steroid-sulfatase-deficiency-&search= isease-Search-Simple [Accessed 8 September 2014].