How effective is ultrasound-based screening for trisomy 18 without the addition of biochemistry at the time of late first trimester?

References

[1] Tonks AM, Gornall AS, Larkins SA, Gardosi JO. Trisomies 18 and 13: trends in prevalence and prenatal diagnosis-population based study. Prenat Diagn. 2013;33:742–50.10.1002/pd.4117Search in Google Scholar PubMed

[2] Tongsong T, Sirichotiyakul S, Wanapirak C, Chanprapaph P. Sonographic features of trisomy 18 at midpregnancy. J Obstet Gynaecol Res. 2002;28:245–50.10.1046/j.1341-8076.2002.00053.xSearch in Google Scholar PubMed

[3] Nyberg DA, Kramer D, Resta RG, Kapur R, Mahony BS, Luthy DA, et al. Prenatal sonographic findings of trisomy 18: review of 47 cases. J Ultrasound Med. 993;12:103–13.10.7863/jum.1993.12.2.103Search in Google Scholar PubMed

[4] Bronsteen R, Lee W, Vettraino IM, Huang R, Comstock CH. Second-trimester sonography and trisomy 18. J Ultrasound Med. 2004;23:233–40.10.7863/jum.2004.23.2.233Search in Google Scholar PubMed

[5] Watson WJ, Miller RC, Wax JR, Hansen WF, Yamamura Y, Polzin WJ. Sonographic findings of trisomy 18 in the second trimester of pregnancy. J Ultrasound Med. 2008;27:1033–8.10.7863/jum.2008.27.7.1033Search in Google Scholar PubMed

[6] Papp C, Ban Z, Szigeti Z, Csaba A, Beke A, Papp Z. Role of second trimester sonography in detecting trisomy 18: a review of 70 cases. J Clin Ultrasound. 2007;35:68–72.10.1002/jcu.20290Search in Google Scholar PubMed

[7] Sepulveda W, Wong AE, Dezerega V. First-trimester sonographic findings in trisomy 18: a review of 53 cases. Prenat Diagn. 2010;30:256–9.10.1002/pd.2462Search in Google Scholar PubMed

[8] Sherod C, Sebire NJ, Soares W, Snijders RJ, Nicolaides KH. Prenatal diagnosis of trisomy 18 at the 10-14-week ultrasound scan. Ultrasound Obstet Gynecol. 1997;10:387–90.10.1046/j.1469-0705.1997.10060387.xSearch in Google Scholar PubMed

[9] Nicolaides KH. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am J Obstet Gynecol. 2004;191:45–67.10.1016/j.ajog.2004.03.090Search in Google Scholar PubMed

[10] Kagan KO, Wright D, Maiz N, Pandeva I, Nicolaides KH. Screening for trisomy 18 by maternal age, fetal nuchal translucency, free beta-human chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol. 2008;32:488–92.10.1002/uog.6123Search in Google Scholar PubMed

[11] Malone FD, Canick JA, Ball RH, Nyberg DA, Comstock CH, Bukowski R, et al. First-trimester or second-trimester screening, or both, for Down’s syndrome. N Engl J Med. 2005;353:2001–11.10.1056/NEJMoa043693Search in Google Scholar

[12] Tul N, Spencer K, Noble P, Chan C, Nicolaides K. Screening for trisomy 18 by fetal nuchal translucency and maternal serum free beta -hCG and PAPP-A at 10-14 weeks of gestation. Prenat Diagn. 1999;19:1035–42.10.1002/(SICI)1097-0223(199911)19:11<1035::AID-PD694>3.0.CO;2-2Search in Google Scholar

[13] Spencer K, Nicolaides KH. A first trimester trisomy 13/trisomy 18 risk algorithm combining fetal nuchal translucency thickness, maternal serum free beta-hCG and PAPP-A. Prenat Diagn. 2002;22:877–9.10.1002/pd.420Search in Google Scholar

[14] Breathnach FM, Malone FD, Lambert-Messerlian G, Cuckle HS, Porter TF, Nyberg DA, et al. First- and second-trimester screening: detection of aneuploidies other than Down syndrome. Obstet Gynecol. 2007;110:651–7.10.1097/01.AOG.0000278570.76392.a6Search in Google Scholar

[15] Ghaffari SR, Tahmasebpour AR, Jamal A, Hantoushzadeh S, Eslamian L, Marsoosi V, et al. First-trimester screening for chromosomal abnormalities by integrated application of nuchal translucency, nasal bone, tricuspid regurgitation and ductus venosus flow combined with maternal serum free β-hCG and PAPP-A: a 5-year prospective study. Ultrasound Obstet Gynecol. 2012;39:528–34.10.1002/uog.10051Search in Google Scholar

[16] Karadzov-Orlic N, Egic A, Milavanovic Z, Marinkovic M, Damnjanovic-Pazin B, Lukic R, et al. Improved diagnostic accuracy by using secondary ultrasound markers in the first-trimester screening for trisomies 21, 18 and 13 and Turner syndrome. Prenat Diagn. 2012;32:638–43.10.1002/pd.3873Search in Google Scholar

[17] Nicolaides KH. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn. 2011;31:7–15.10.1002/pd.2637Search in Google Scholar

[18] American Institute of Ultrasound in Medicine. AIUM practice guideline for the performance of obstetric ultrasound examinations. J Ultrasound Med. 2010;29:157–66.10.7863/jum.2010.29.1.157Search in Google Scholar

[19] Fetal Echocardiography Task Force; American Institute of Ultrasound in Medicine Clinical Standards Committee; American College of Obstetricians and Gynecologists; Society for Maternal-Fetal Medicine. AIUM practice guideline for the performance of fetal echocardiography. J Ultrasound Med. 2011;30:127–36.10.7863/jum.2011.30.1.127Search in Google Scholar

[20] Volpe P, De Robertis V, Campobasso G, Tempesta A, Volpe G, Rembouskos G. Diagnosis of congenital heart disease by early and second-trimester fetal echocardiography. J Ultrasound Med. 2012;31:563–8.10.7863/jum.2012.31.4.563Search in Google Scholar

[21] Kagan KO, Wright D, Baker A, Sahota D, Nicolaides KH. Screening for trisomy 21 by maternal age, fetal nuchal translucency thickness, free betahuman chorionic gonadotropin and pregnancy-associated plasma protein-A. Ultrasound Obstet Gynecol. 2008;31:618–24.10.1002/uog.5331Search in Google Scholar PubMed

[22] Wright D, Spencer K, Kagan KO, Tørring N, Petersen OB, Christou A, et al. First-trimester combined screening for trisomy 21 at 7–14 weeks gestation. Ultrasound Obstet Gynecol. 2010;36:404–11.10.1002/uog.7755Search in Google Scholar PubMed

[23] Borrell A, Casals E, Fortuny A, Farre MT, Gonce A, Sanchez A, et al. First-trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimalgestational ages. An interventional study. Prenat Diagn. 2004;24:541–5.10.1002/pd.949Search in Google Scholar PubMed

[24] Yang JH, Chung JH, Shin JS, Choi JS, Ryu HM, Kim MY. Prenatal diagnosis of trisomy 18: report of 30 cases. Prenat Diagn. 2005;25:119–22.10.1002/pd.1073Search in Google Scholar PubMed

[25] Lai S, Lau WL, Leung WC, Lai FK, Chin R. Is ultrasound alone enough for prenatal screening of trisomy 18? A single centre experience in 69 cases over 10 years. Prenat Diagn. 2010;30:1094–9.10.1002/pd.2623Search in Google Scholar PubMed

[26] Yeo L, Guzman ER, Day-Salvatore D, Walters C, Chavez D, Vintzileos AM. Prenatal detection of fetal trisomy 18 through abnormal sonographic features. J Ultrasound Med. 2003;22:581–90.10.7863/jum.2003.22.6.581Search in Google Scholar PubMed

[27] Wimalasundera RC, Gardiner HM. Congenital heart disease and aneuploidy. Prenat Diagn. 2004;24:1116–22.10.1002/pd.1068Search in Google Scholar PubMed

[28] Cheng P-J, Liu C-M, Chueh H-Y, Lin C-M, Soong Y-K. First-trimester nuchal translucency measurement and echocardiography at 16 to 18 weeks of gestation in prenatal detection for trisomy 18. Prenat Diagn. 2003;23:248–51.10.1002/pd.581Search in Google Scholar PubMed

[29] Moyano D, Huggon IC, Allan LD. Fetal echocardiography in trisomy 18. Arch Dis Child Fetal Neonatal Ed. 2005;90:F520–2.10.1136/adc.2004.070342Search in Google Scholar PubMed PubMed Central

[30] Liao AW, Snijders R, Geerts L, Spencer K, Nicolaides KH. Fetal heart rate in chromosomally abnormal fetuses. Ultrasound Obstet Gynecol. 2000;16:610–13.10.1046/j.1469-0705.2000.00292.xSearch in Google Scholar PubMed

[31] Rembouskos G, Cicero S, Longo D, Sacchini C, Nicolaides KH. Single umbilical artery at 11-14 weeks’ gestation: relation to chromosomal defects. Ultrasound Obstet Gynecol. 2003;22:567–70.10.1002/uog.901Search in Google Scholar PubMed

[32] Blaas HG, Eik-Nes SH, Kiserud T, Hellevik LR. Early development of the abdominal wall, stomach and heart from 7 to 12 weeks of gestation: a longitudinal ultrasound study. Ultrasound Obstet Gynecol. 1995;6:240–9.10.1046/j.1469-0705.1995.06040240.xSearch in Google Scholar PubMed

[33] Khalil A, Arnaoutoglou C, Pacilli M, Szabo A, David AL, Pandya P. Outcome of fetal exomphalos diagnosed at 11-14 weeks of gestation. Ultrasound Obstet Gynecol. 2012;39:401–6.10.1002/uog.10048Search in Google Scholar PubMed

[34] Rice KJ, Ballas J, Lai E, Hartney C, Jones MC, Pretorius DH. Diagnosis of fetal limb abnormalities before 15 weeks: cause for concern. J Ultrasound Med. 2011;30:1009–19.10.7863/jum.2011.30.7.1009Search in Google Scholar PubMed

[35] Baken L, Benoit B, Koning AH, Willemsen SP, van der Spek PJ, Steegers-Theunissen RP, et al. First-trimester hand measurements in euploid and aneuploid human fetuses using virtual reality. Prenat Diagn. 2014;34:961–9.10.1002/pd.4404Search in Google Scholar PubMed

[36] Quintero RA, Johnson MP, Mendoza G, Evans MI. Ontogeny of clenched-hand development in trisomy 18 fetuses: a serial transabdominal fetoscopic observation. Fetal Diagn Ther. 1999;14:68–70.10.1159/000020892Search in Google Scholar PubMed