Contribution of “modified genetic sonography” to the combined test as a screening method for chromosomal abnormalities

References

• Malone FD, Canick JA, Ball RH, Nyberg DA, Comstock CH, Bukowski R, Berkowitz RL, et al.; First- and Second-Trimester Evaluation of Risk (FASTER) Research Consortium. First-trimester or second-trimester screening, or both, for Down’s syndrome. N Engl J Med 2005;353:2001–2011.
   PubMed Web of Science ®Google Scholar
• Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM. First and second trimester antenatal screening for Down’s syndrome: The results of the Serum, Urine and Ultrasound Screening Study (SURUSS). J Med Screen 2003;10:56–104.
   PubMed Web of Science ®Google Scholar
• Wald NJ, Watt HC, Hackshaw AK. Integrated screening for Down’s syndrome on the basis of tests performed during the first and second trimesters. N Engl J Med 1999;341:461–467.
   PubMed Web of Science ®Google Scholar
• National collaborating centre for women’s and children’s health. Commissioned by the national institute for clinical excellence (NICE). Antenatal Care: Routine Care for the Healthy Pregnant Woman. 2005. London: RCOG Press.
   Google Scholar
• Royal College of Obstetricians and Gynaecologists. www.rcog.org.uk.
   Google Scholar
• Spanish Society of Obstetrics and Gynaecology. www.sego.es.
   Google Scholar
• Rotmensch S, Liberati M, Bronshtein M, Schoenfeld-Dimaio M, Shalev J, Ben-Rafael Z, Copel JA. Prenatal sonographic findings in 187 fetuses with Down syndrome. Prenat Diagn 1997;17:1001–1009.
   PubMedGoogle Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Benacerraf BR. Ultrasound of fetal Syndrome. Philadelphia, Churchill Livingstone, 1998: Pp. 328.
   Google Scholar
• 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.
   PubMedGoogle Scholar
• Nicolaides KH, Sebire NJ, Snijders R. The 11–14 week scan. Ed: London: The Parthenon Publishing Group. 1999
   Google Scholar
• 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 β-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol 1999;13:231–237.
   PubMed Web of Science ®Google Scholar
• Cuckle H. Improved parameters for risk estimation in Down’s syndrome screening. Prenat Diagn 1995;15:1057–1065.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Muller PR, Cocciolone R, Haan EA, Wilkinson C, Scott H, Sage L, Bird R, et al. Trends in state/population-based Down syndrome screening and invasive prenatal testing with the introduction of first-trimester combined Down syndrome screening, South Australia, 1995–2005. Am J Obstet Gynecol 2007;196:315.e1–7; discussion 285.
   Google Scholar
• National Down’s Syndrome Screening Programme for England. Antenatal Screening Working Standards. London: NHS.2004.
   Google Scholar
• WØjdemann KR, Shalmi AC, Christiansen M, Larsen SO, Sundberg K, Brocks V, Bang J, NØrgaad-Pedersen B, Tabor A. Improved first-trimester Down syndrome screening performance by lowering the false-positive rate: A prospective study of 9941 low-risk women. Ultrasound Obstet Gynecol 1999;13:231–237.
   PubMedGoogle Scholar
• Ekelund CK, Jørgensen FS, Petersen OB, Sundberg K, Tabor A; Danish Fetal Medicine Research Group. Impact of a new national screening policy for Down’s syndrome in Denmark: Population based cohort study. BMJ 2008;337:a2547.
   PubMed Web of Science ®Google Scholar
• Sainz JA, Peral I, Serrano R, Turmo E, Moro A, Caballero V, Garrido R. Universal implementation of the “Consecutive Combined Test” in the South Seville area (Valme University Hospital). Clin Invest Ginecol Obstet 2010;37:152–157.
   Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMedGoogle Scholar
• 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.
   PubMedGoogle Scholar
• 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.
   PubMedGoogle Scholar
• Krantz DA, Hallahan TW, Macri VJ, Macri JN. Genetic sonography after first-trimester Down syndrome screening. Ultrasound Obstet Gynecol 2007;29:666–670.
   PubMed Web of Science ®Google Scholar
• Smith-Bindman R, Chu P, Goldberg JD. Second trimester prenatal ultrasound for the detection of pregnancies at increased risk of Down syndrome. Prenat Diagn 2007;27:535–544.
   PubMed Web of Science ®Google Scholar
• Benacerraf BR. Should sonographic screening for fetal Down syndrome be applied to low risk women? Ultrasound Obstet Gynecol 2000;15:451–455.
   PubMedGoogle Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Bahado-Singh R, Shahabi S, Karaca M, Mahoney MJ, Cole L, Oz UA. The comprehensive midtrimester test: High-sensitivity Down syndrome test. Am J Obstet Gynecol 2002;186:803–808.
   PubMedGoogle Scholar
• Bahado-Singh RO, Oz UA, Mendilcioglu I, Mahoney MJ. The mid-trimester genetic sonogram. Semin Perinatol 2005;29:209–214.
   PubMedGoogle Scholar
• Nicolaides KH. Screening for chromosomal defects. Ultrasound Obstet Gynecol 2003;21:313–321.
   PubMed Web of Science ®Google Scholar
• 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.
   Google Scholar
• 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.
   PubMedGoogle Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• DeVore GR. Trisomy 21: 91% detection rate using second-trimester ultrasound markers. Ultrasound Obstet Gynecol 2000;16:133–141.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Egan JF, Benn P, Borgida AF, Rodis JF, Campbell WA, Vintzileos AM. Efficacy of screening for fetal Down syndrome in the United States from 1974 to 1997. Obstet Gynecol 2000;96:979–985.
   PubMed Web of Science ®Google Scholar
• Egan JF, Rodis JF, Benn PA. Ultrasound markers of fetal Down syndrome. JAMA 2001;285:2856–7; author reply 2858.
   PubMedGoogle Scholar
• Wellesley D, De Vigan C, Baena N, Cariati E, Stoll C, Boyd PA, Clementi M; Euroscan Group. Contribution of ultrasonographic examination to the prenatal detection of trisomy 21: Experience from 19 European registers. Ann Genet 2004;47:373–380.
   PubMedGoogle Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Aagaard-Tillery KM, Malone FD, Nyberg DA, Porter TF, Cuckle HS, Fuchs K, Sullivan L, et al.; First and Second Trimester Evaluation of Risk Research Consortium. Role of second-trimester genetic sonography after Down syndrome screening. Obstet Gynecol 2009;114:1189–1196.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMedGoogle Scholar
• Devore GR. Genetic sonography: The historical and clinical role of fetal echocardiography. Ultrasound Obstet Gynecol 2010;35:509–521.
   PubMed Web of Science ®Google Scholar