72
Views
1
CrossRef citations to date
0
Altmetric
Original Article

Role of fetal echocardiography in stepwise sequential screening for chromosomal disorders (combined test associated with modified genetic sonography)

, , , , , , & show all
Pages 2216-2220 | Received 03 Dec 2011, Accepted 06 Apr 2012, Published online: 04 Jul 2012

References

  • Breathnach FM, Fleming A, Malone FD. The second trimester genetic sonogram. Am J Med Genet C Semin Med Genet 2007;145C:62–72.
  • Benacerraf BR. The history of the second-trimester sonographic markers for detecting fetal Down syndrome, and their current role in obstetric practice. Prenat Diagn 2010;30:644–652.
  • Nyberg DA, Souter VL, El-Bastawissi A, Young S, Luthhardt F, Luthy DA. Isolated sonographic markers for detection of fetal Down syndrome in the second trimester of pregnancy. J Ultrasound Med 2001;20:1053–1063.
  • Bromley B, Lieberman E, Shipp TD, Benacerraf BR. The genetic sonogram: a method of risk assessment for Down syndrome in the second trimester. J Ultrasound Med 2002;21:1087–96; quiz 1097.
  • Hobbins JC, Lezotte DC, Persutte WH, DeVore GR, Benacerraf BR, Nyberg DA, Vintzileos AM, et al. An 8-center study to evaluate the utility of mid-term genetic sonograms among high-risk pregnancies. J Ultrasound Med 2003;22:33–38.
  • Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 2011;31:7–15.
  • Bottalico JN, Chen X, Tartaglia M, Rosario B, Yarabothu D, Nelson L. Second-trimester genetic sonogram for detection of fetal chromosomal abnormalities in a community-based antenatal testing unit. Ultrasound Obstet Gynecol 2009;33:161–168.
  • Paladini D, Tartaglione A, Agangi A, Teodoro A, Forleo F, Borghese A, Martinelli P. The association between congenital heart disease and Down syndrome in prenatal life. Ultrasound Obstet Gynecol 2000;15:104–108.
  • Cleves MA, Hobbs CA, Cleves PA, Tilford JM, Bird TM, Robbins JM. Congenital defects among liveborn infants with Down syndrome. Birth Defects Res Part A Clin Mol Teratol 2007;79:657–663.
  • Pont SJ, Robbins JM, Bird TM, Gibson JB, Cleves MA, Tilford JM, Aitken ME. Congenital malformations among liveborn infants with trisomies 18 and 13. Am J Med Genet A 2006;140:1749–1756.
  • Yagel S. Fetal cardiology. New York: Taylor and Francis group; 2005. pp 80.
  • Nicolaides KH, Spencer K, Avgidou K, Faiola S, Falcon O. Multicenter study of first-trimester screening for trisomy 21 in 75 821 pregnancies: results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening. Ultrasound Obstet Gynecol 2005;25:221–226.
  • Krantz DA, Hallahan TW, Macri VJ, Macri JN. Genetic sonography after first-trimester Down syndrome screening. Ultrasound Obstet Gynecol 2007;29:666–670.
  • Ramos-Corpas DJ, Santiago JC. Combined test + inhibin A at week 13 in contingent sequential testing: an interesting alternative for first-trimester prenatal screening for Down syndrome. Prenat Diagn 2008;28:833–838.
  • Benn PA, Egan JF. Expected performance of second trimester maternal serum testing followed by a ‘genetic sonogram’ in screening of fetal Down syndrome. Prenat Diagn 2008;28:230–235.
  • Rozenberg P, Bussières L, Chevret S, Bernard JP, Malagrida L, Cuckle H, Chabry C, et al. Screening for Down syndrome using first-trimester combined screening followed by second-trimester ultrasound examination in an unselected population. Am J Obstet Gynecol 2006;195:1379–1387.
  • Benacerraf BR. Ultrasound of fetal syndrome. Philadelphia: Churchill Livingstone; 1998. pp 328.
  • Nyberg DA, Luthy DA, Resta RG, Nyberg BC, Williams MA. Age-adjusted ultrasound risk assessment for fetal Down’s syndrome during the second trimester: description of the method and analysis of 142 cases. Ultrasound Obstet Gynecol 1998;12:8–14.
  • Benacerraf BR, Frigoletto FD Jr. Soft tissue nuchal fold in the second-trimester fetus: standards for normal measurements compared with those in Down syndrome. Am J Obstet Gynecol 1987;157:1146–1149.
  • Yagel S, Cohen SM, Achiron R. Examination of the fetal heart by five short-axis views: a proposed screening method for comprehensive cardiac evaluation. Ultrasound Obstet Gynecol 2001;17:367–369.
  • Nicolaides KH, Sebire NJ, Snijders R. The 11-14 week scan. London: The Parthenon Publishing Group; 1999.
  • Cuckle H. Improved parameters for risk estimation in Down’s syndrome screening. Prenat Diagn 1995;15:1057–1065.
  • Spencer K, Souter V, Tul N, Snijders R, Nicolaides KH. A screening program for trisomy 21 at 10-14 weeks using fetal nuchal translucency, maternal serum free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 1999;13:231–237.
  • Reynolds TM, Penney MD. The mathematical basis of multivariate risk screening: with special reference to screening for Down’s syndrome associated pregnancy. Ann Clin Biochem 1990;27 (Pt 5):452–458.
  • Spanish Society of Obstetrics and Gynaecology. http://www.sego.es.
  • Royal College of Obstetricians and Gynaecologists. http://www.rcog.org.uk.
  • Aagaard-Tillery KM, Malone FD, Nyberg DA, Porter TF, Cuckle HS, Fuchs K, Sullivan L, et al. Role of second-trimester genetic sonography after Down syndrome screening. Obstet Gynecol 2009;114:1189–1196.
  • Salomon LJ, Chevret S, Bussieres L, Ville Y, Rozenberg P. Down syndrome screening using first-trimester combined tests and contingent use of femur length at routine anomaly scan. Prenat Diagn 2010;30:783–789.
  • Sainz JA, Serrano R, Turmo E, Almeida C, Caballero V, Garrido R. Contribution of “modified genetic sonography” to the combined test as a screening method for chromosomal abnormalities. J Matern Fetal Neonatal Med 2011, in press.
  • Smith-Bindman R, Hosmer W, Feldstein VA, Deeks JJ, Goldberg JD. Second-trimester ultrasound to detect fetuses with Down syndrome: a meta-analysis. JAMA 2001;285:1044–1055.
  • Paladini D, Sglavo G, Pastore G, Masucci A, Dármiento MR, Nappi C. Aberrant right subclavian artery (ARSA). Incidence and correlation with other markers of Down syndrome in 2nd trimester fetuses. Ultrasound Obstet Gynecol 2012;39:191–195.
  • Mogra R, Zidere V, Allan LD. Prenatally detectable congenital heart defects in fetuses with Down syndrome. Ultrasound Obstet Gynecol 2011;38:320–324.
  • Tegnander E, Willians W, Johansen OJ, Blaas HG, Eik-Nes SH. Prenatal detection of heart defects in a non-selected population of 30149 fetuses-detection rates and outcome. Ultrasound Obstet Gynecol 2006;27:252–265.
  • Carvalho JS, Mavrides E, Shinebourne EA, Campbell S, Thilaganathan B. Improving the effectiveness of routine prenatal screening for major congenital heart defects. Heart 2002;88:387–391.
  • Achiron R, Glaser J, Gelernter I, Hegesh J, Yagel S. Extended fetal echocardiographic examination for detecting cardiac malformations in low risk pregnancies. BMJ 1992;304:671–674.
  • Vintzileos AM, Campbell WA, Rodis JF, Guzman ER, Smulian JC, Knuppel RA. The use of second-trimester genetic sonogram in guiding clinical management of patients at increased risk for fetal trisomy 21. Obstet Gynecol 1996;87:948–952.
  • DeVore GR. Trisomy 21: 91% detection rate using second-trimester ultrasound markers. Ultrasound Obstet Gynecol 2000;16:133–141.
  • Clur SA, Oude Rengerink K, Ottenkamp J, Bilardo CM. Cardiac function in trisomy 21 fetuses. Ultrasound Obstet Gynecol 2011;37:163–171.
  • Kagan KO, Valencia C, Livanos P, Wright D, Nicolaides KH. Tricuspid regurgitation in screening for trisomies 21, 18 and 13 and Turner syndrome at 11+0 to 13+6 weeks of gestation. Ultrasound Obstet Gynecol 2009;33:18–22.
  • DeVore GR. Genetic sonography: the historical and clinical role of fetal echocardiography. Ultrasound Obstet Gynecol 2010;35:509–521.
  • Clur SAB, Oude Rengerink K, Ottenkamp J, Bilardo CM. Cardiac function in trisomy 21 fetuses. Ultrasound Obstet Gynecol 2011;37:163–171.
  • American College of Obstetricians and Gynecologists. Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol 2007;109:217–227.
  • Muñoz-Cortes M, Arigita M, Falguera G, Seres A, Guix D, Baldrich E, Acera A, et al. Contingent screening for Down syndrome completed in the first trimester: a multicenter study. Ultrasound Obstet Gynecol 2012;39:396–400.
  • Cuckle HS. Growing complexity in the choice of Down’s syndrome screening policy. Ultrasound Obstet Gynecol 2002;19:323–326.
  • Benn PA, Kaminsky LM, Ying J, Borgida AF, Egan JF. Combined second-trimester biochemical and ultrasound screening for Down syndrome. Obstet Gynecol 2002;100:1168–1176.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.