The role of ultrasound in prenatal detection of chromosomal abnormalities

References

• Langdon Down J. Observations on an ethnic classification of idiots. Clinical Lectures and Reports, London Hospital3,259–262 (1866).
   Google Scholar
• Nicolaides KH, Azar G, Byrne D, Mansur C, Marks K. Fetal nuchal translucency: ultrasound screening for chromosomal defects in first trimester of pregnancy. Br. Med.J.304(6831),867–869 (1992).
   PubMed Web of Science ®Google Scholar
• Pandya PP, Kondylios A, Hilbert L, Snijders RJ, Nicolaides KH. Chromosomal defects and outcome in 1015 fetuses with increased nuchal translucency. Ultrasound Obstet. Gynecol.5(1),15–19 (1995).
   PubMed Web of Science ®Google Scholar
• Malone FD, D’Alton ME. First-trimester sonographic screening for Down syndrome. Obstet. Gynecol.102(5),1066–1079 (2003).
   PubMed Web of Science ®Google Scholar
• Nicolaides KH. First-trimester screening for chromosomal abnormalities. Semin. Perinatol.29(4),190–194 (2005).
   PubMed Web of Science ®Google Scholar
• Nicolaides KH, Heath V, Cicero S. Increased fetal nuchal translucency at 11–14 weeks. Prenat. Diagn.22(4),308–315 (2002).
   PubMed Web of Science ®Google Scholar
• Nicolaides KH. Nuchal translucency and other first-trimester sonographic markers of chromosomal abnormalities. Am. J. Obstet. Gynecol.191(1),45–67 (2004).
   PubMed Web of Science ®Google Scholar
• Rosen T, D’Alton ME. Down syndrome screening in the first and second trimesters: what do the data show? Semin. Perinatol.29(6),367–375 (2005).
   Google Scholar
• Haddow JE, Palomaki GE, Knight GJ, Williams J, Miller WA, Johnson A. Screening of maternal serum for fetal Down’s syndrome in the first trimester. N. Engl. J. Med.338(14),955–961 (1998).
   PubMed Web of Science ®Google Scholar
• Wapner R. First trimester screening: the BUN study. Semin. Perinatol.29(4),236–239 (2005).
   PubMed Web of Science ®Google Scholar
• Wald NJ, Rodeck C, Hackshaw AK et al. First and second trimester antenatal screening for Down’s syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). Health Technol. Assess.7,1–77 (2003).
   Google Scholar
• Reddy UM, Wapner RJ. Comparison of first and second trimester aneuploidy risk assessment. Clin. Obstet. Gynecol.50(2),442–453 (2007).
   PubMed Web of Science ®Google Scholar
• Souter VL, Nyberg DA. Sonographic screening for fetal aneuploidy: first trimester. J. Ultrasound Med.20(7),775–790 (2001).
   PubMed Web of Science ®Google Scholar
• Cicero S, Curcio P, Papageorghiou A, Sonek J, Nicolaides KH. Absence of nasal bone in fetuses with trisomy 21 at 11–14 weeks of gestation: an observational study. Lancet.358(9294),1665–1667 (2001).
   PubMed Web of Science ®Google Scholar
• Cicero S, Longo D, Rembouskos G, Sacchini C, Nicolaides KH. Absent nasal bone at 11–14 weeks of gestation and chromosomal defects. Ultrasound Obstet. Gynecol.22(1),31–35 (2003).
   PubMed Web of Science ®Google Scholar
• Cicero S, Rembouskos G, Vandecruys H, Hogg M, Nicolaides KH. Likelihood ratio for trisomy 21 in fetuses with absent nasal bone at the 11–14 weeks scan. Ultrasound Obstet. Gynecol.23(3),218–223 (2004).
   PubMed Web of Science ®Google Scholar
• Malone FD, Ball RH, Nyberg DA et al. FASTER Research Consortium. First-trimester nasal bone evaluation for aneuploidy in the general population. Obstet. Gynecol.104(6),1222–1228 (2004).
   PubMed Web of Science ®Google Scholar
• Sonek JD, Cicero S, Neiger R, Nicolaides KH. Nasal bone assessment in prenatal screening for trisomy 21. Am. J. Obstet. Gynecol.195(5),1219–1230 (2006).
   PubMed Web of Science ®Google Scholar
• Cicero S, Bindra R, Rembouskos G, Spencer K, Nicolaides KH. Integrated ultrasound and biochemical screening for trisomy 21 using fetal nuchal translucency, absent fetal nasal bone, free β-hCG and PAPP-A at 11 to 14 weeks. Prenat. Diagn.23(4),306–310 (2003).
   PubMed Web of Science ®Google Scholar
• American College of Obstetricians and Gynecologists: first-trimester screening for fetal anomalies with nuchal translucency. Obstet. Gynecol.23–24 (2002).
   Google Scholar
• Snijders RJ, Noble P, Sebire N, Souka A, Nicolaides KH. UK multicentre project on assessment of risk of trisomy 21 by maternal age and fetal nuchal translucency thickness at 10–14 weeks of gestation. Lancet.352(9125),343–346 (1998).
   PubMed Web of Science ®Google Scholar
• Nicolaides KH. Sonographic features of chromosomal defects. In: The 11–13.6 weeks scan. Fetal Medicine Foundation, London, UK, 45–70 (2004).
   Google Scholar
• 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.22 (6),567–570 (2003).
   PubMed Web of Science ®Google Scholar
• Liao AW, Sebire NJ, Geerts L, Cicero S, Nicolaides KH. Megacystis at 10–14 weeks of gestation: chromosomal defects and outcome according to bladder length. Ultrasound Obstet. Gynecol.21(4),338–341 (2003).
   PubMed Web of Science ®Google Scholar
• Borrell A, Martinez JM, Seres A, Borobio V, Cararach V, Fortuny A. Ductus venosus assessment at the time of nuchal translucency measurement in the detection of fetal aneuploidy. Prenat. Diagn.23(11),921–926 (2003).
   PubMed Web of Science ®Google Scholar
• Matias A, Gomes C, Flack N, Montenegro N, Nicolaides KH. Screening for chromosomal abnormalities at 10–14 weeks: The role of ductus venosus blood flow. Ultrasound Obstet. Gynecol.12(6),380–384 (1998).
   PubMed Web of Science ®Google Scholar
• Prefumo F, Sethna F, Sairam S, Bhide A, Thilaganathan B. First-trimester ductus venosus, nasal bones, and Down syndrome in a high-risk population. Am. J. Obstet. Gynecol.105(6),1348–1354 (2005).
   Google Scholar
• Falcon O, Auer M, Gerovassili A, Spencer K, Nicolaides KH. Screening for trisomy 21 by fetal tricuspid regurgitation, nuchal translucency and maternal serum free β-hCG and PAPP-A at 11+0 to 13+6 weeks. Ultrasound Obstet. Gynecol.27(2),151–155 (2006).
   PubMed Web of Science ®Google Scholar
• Faiola S, Tsoi E, Huggon IC, Allan LD, Nicolaides KH. Likelihood ratio for trisomy 21 in fetuses with tricuspid regurgitation at the 11 to 13.6 week scan. Ultrasound Obstet. Gynecol.26(1),22–27 (2005).
   PubMed Web of Science ®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-oriented two-stage first-trimester screening. Ultrasound Obstet. Gynecol.25(3),221–226 (2005).
   PubMed Web of Science ®Google Scholar
• ACOG Committee Opinion #296. First-trimester screening for fetal aneuploidy. Obstet Gynecol.104(1),215–217 (2004).
   PubMedGoogle 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.96(6),979–985 (2000).
   PubMed Web of Science ®Google Scholar
• Yeo L, Vintzileos AM. The use of genetic sonography to reduce the need for amniocentesis in women at high-risk for Down syndrome. Semin. Perinatol.27(2),152–159 (2003).
   PubMed Web of Science ®Google Scholar
• Nyberg DA, Kramer D, Resta RG et al. Prenatal sonographic findings of trisomy 18: Review of 47 cases. J. Ultrasound Med.12(2),103–113 (1993).
   PubMed Web of Science ®Google Scholar
• 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.22(6),581–590 (2003).
   PubMed Web of Science ®Google Scholar
• Lehman CD, Nyberg DA, Winter TC 3rd, Kapur RP, Resta RG, Luthy DA. Trisomy 13 syndrome: Prenatal ultrasound findings in a review of 33 cases. Radiology.194(1),217–222 (1995).
   PubMed Web of Science ®Google Scholar
• Vintzileos AM, Egan JF. Adjusting the risk for trisomy 21 on the basis of second trimester ultrasonography. Am. J. Obstet. Gynecol.172(3),837–844 (1995).
   PubMed Web of Science ®Google Scholar
• Vintzileos AM, Guzman ER, Smulian JC, Day-Salvatore DL, Knuppel RA. Indication-specific accuracy of second-trimester genetic ultrasonography for the detection of trisomy 21. Am. J. Obstet. Gynecol.181(5 Pt 1),1045–1048 (1999).
   PubMed Web of Science ®Google Scholar
• Benacerraf BR, Neuberg D, Bromley B, Frigoletto FD Jr. Sonographic scoring index for prenatal detection of chromosomal abnormalities. J. Ultrasound Med.11(9),449–458 (1992).
   PubMed Web of Science ®Google Scholar
• Persutte WH, Hobbins JC, Nyberg DA et al. Trisomy 21 multicenter collaborative project. Am. J. Obstet. Gynecol.178(1),S22 (1998).
   Google Scholar
• Hobbins JC, Lezotte D, Persutte WH et al. An eight center study to evaluate the utility of mid-term genetic ultrasounds among high risk pregnancies. J. Ultrasound Med.22(1),33–33 (2003).
   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. JAMA285(8),1044–1055 (2001).
   PubMed Web of Science ®Google Scholar
• Malone F, Nyberg DA, Vidaver J et al. First and second trimester evaluation of risk (FASTER) trial: the role of second trimester genetic sonography. Am. J. Obstet. Gynecol.191(6),S3 (2005).
   Web of Science ®Google Scholar
• 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.87(6),948–952 (1996).
   PubMed Web of Science ®Google Scholar
• Yeo L, Ananth CV, Kontopoulos E, Vintzileos AM. The addition of absent nasal bone increases the sensitivity of second trimester genetic sonography for Down syndrome to 92.8%. Am. J. Obstet. Gynecol.191(6),S25 (2005).
   Google Scholar
• Vintzileos AM, Guzman ER, Smulian JC, McLean DA, Ananth CV. Choice of second-trimester genetic sonogram for detection of trisomy 21. Obstet. Gynecol.90(2),187–190 (1997).
   PubMed Web of Science ®Google Scholar
• Bahado-Singh RO, Tan A, Deren O, Hunter D, Copel J, Mahoney MJ. Risk of Down syndrome and any clinically significant chromosome defect in pregnancies with abnormal triple-screen and normal targeted ultrasound results. Am. J. Obstet. Gynecol.175(4 Pt 1),824–829 (1996).
   PubMed Web of Science ®Google Scholar
• Deren O, Mahoney MJ, Copel JA, Bahado-Singh RO. Subtle ultrasonographic anomalies: do they improve the Down syndrome detection rate? Am. J. Obstet. Gynecol.178(3),441–445 (1998).
   PubMed Web of Science ®Google Scholar
• Pinette MG, Garrett J, Salvo A et al. Normal midtrimester (17–20 weeks) genetic sonogram decreases amniocentesis rate in a high-risk population. J. Ultrasound Med.20(6),639–644 (2001).
   PubMed Web of Science ®Google Scholar
• Hobbins JC, Bahado-Singh RO, Lezotte DC. The genetic sonogram in screening for Down syndrome: response to the JAMA study. J. Ultrasound Med.20(6),269–272 (2001).
   PubMed Web of Science ®Google Scholar
• Vintzileos AM, Guzman ER, Smulian JC, Yeo L, Scorza WE, Knuppel RA. Down syndrome risk estimation after normal genetic sonography. Am. J. Obstet. Gynecol.187(5),1226–1229 (2002).
   PubMed Web of Science ®Google Scholar
• Vintzileos AM, Guzman ER, Smulian JC, Yeo L, Scorza WE, Knuppel RA. Second-trimester genetic sonography in patients with advanced maternal age and normal triple screen. Obstet. Gynecol.99(6),993–995 (2002).
   PubMed Web of Science ®Google Scholar
• Filly RA, Benacerraf BR, Nyberg DA, Hobbins JC. Choroid plexus cyst and echogenic intracardiac focus in women at low risk for chromosomal anomalies. J. Ultrasound Med.23,447–449 (2004).
   PubMed Web of Science ®Google Scholar
• Landwehr JB Jr, Johnson MP, Hume RF, Yaron Y, Sokol RJ, Evans MI. Abnormal nuchal findings on screening ultrasonography: Aneuploidy stratification on the basis of ultrasonographic anomaly and gestational age at detection. Am. J. Obstet. Gynecol.175(4 Pt 1), 175 995–999 (1996).
   PubMed Web of Science ®Google Scholar
• ACOG Practice Bulletin: Prenatal Diagnosis of Fetal Chromosomal Abnormalities. 2006 Compendium of Selected Publications, 837–878 (2001).
   Google Scholar
• Benacerraf BR, Nadel AS, Bromley B. Identification of second-trimester fetuses with autosomal trisomy by use of a sonographic scoring index. Radiology.193(1),135–140 (1994).
   PubMed Web of Science ®Google Scholar
• Bromley B, Lieberman E, Benacerraf BR. The incorporation of maternal age into the sonographic scoring index for the detection at 14–20 weeks of fetuses with Down’s syndrome. Ultrasound Obstet. Gynecol.10(5),321–324 (1997).
   PubMed Web of Science ®Google Scholar
• Nyberg DA, Souter VL. Use of genetic sonography for adjusting the risk for fetal Down syndrome. Semin. Perinatol.27(2),130–144 (2003).
   PubMed Web of Science ®Google 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.20(10),1053–1063 (2001).
   PubMed Web of Science ®Google 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.12(1),8–14 (1998).
   PubMed Web of Science ®Google Scholar
• Bromley B, Lieberman E, Shipp TD, Benacerraf BR. The genetic sonogram, a method for risk assessment for Down syndrome in the mid trimester. J. Ultrasound Med.21(10),1087–1096 (2002).
   PubMed Web of Science ®Google Scholar
• Nyberg DA, Souter VL. Chromosomal abnormalities. In: Diagnostic Imaging of Fetal Anomalies. Nyberg DA, McGahan JP, Pretorius DH, Pilu G (Eds). Lippincott Williams & Wilkins, PA, USA, 86–906 (2003).
   Google Scholar
• Sonek JD, Nicolaides KH. Prenatal ultrasonographic diagnosis of nasal bone abnormalities in three fetuses with Down syndrome. Am. J. Obstet. Gynecol.186(1),139–141 (2002).
   PubMed Web of Science ®Google Scholar
• Bromley B, Lieberman E, Shipp TD, Benacerraf BR. Fetal nose bone length: a marker for Down syndrome in the second trimester. J. Ultrasound Med.21(12),1387–1394 (2002).
   PubMed Web of Science ®Google Scholar
• Vintzileos AM, Walters C, Yeo L. Absent nasal bone in the prenatal detection of fetuses with trisomy 21 in a high-risk population. Obstet. Gynecol.101(5 Pt 1),905–908 (2003).
   PubMed Web of Science ®Google Scholar
• Odibo AO, Sehdev HM, Dunn L, McDonald R, Macones GA. The association between fetal nasal bone hypoplasia and aneuploidy. Obstet. Gynecol.104(6),1229–1233 (2004).
   PubMed Web of Science ®Google Scholar
• Odibo AO, Sehdev HM, Sproat L et al. Evaluating the efficiency of using second-trimester nasal bone hypoplasia as a single or a combined marker for fetal aneuploidy. J. Ultrasound Med.25(4),437–441 (2006).
   PubMed Web of Science ®Google Scholar
• Salihu HM, Boos R, Schmidt W. Antenatally detectable markers for the diagnosis of autosomally trisomic fetuses in at-risk pregnancies. Am. J. Perinatol.14(5),257–261 (1997).
   PubMed Web of Science ®Google Scholar
• Benacerraf BR, Miller WA, Frigoletto FD. Sonographic detection of fetuses with trisomies 13 and 18: accuracy and limitations. Am. J. Obstet. Gynecol.158(2),404–409 (1988).
   PubMed Web of Science ®Google Scholar
• Shields LE, Carpenter LA, Smith KM, Nghiem HV. Ultrasonographic diagnosis of trisomy 18: is it practical in the early second trimester? J. Ultrasound Med.17(5),327–331 (1998).
   PubMed Web of Science ®Google Scholar
• DeVore GR. Second trimester ultrasonography may identify 77 to 97% of fetuses with trisomy 18. J. Ultrasound Med.19(8),565–576 (2000).
   PubMed Web of Science ®Google Scholar
• Nicolaides KH, Snijders RJ, Gosden CM, Berry C, Campbell S. Ultrasonographically detectable markers of fetal chromosomal abnormalities. Lancet.340(8821),704–707 (1992).
   PubMed Web of Science ®Google Scholar
• Tongsong T, Sirichotiyakul S, Wanapirak C, Chanprapah P. Sonographic features of trisomy 13 at midpregnancy. Int. J. Gynaecol. Obstet.76(2),143–148 (2002).
   PubMed Web of Science ®Google Scholar
• DeVigan C, Baena N, Cariati E, Clementi M, Stoll C; EUROSCAN Working Group. Contribution of ultrasonographic examination to the prenatal detection of chromosomal abnormalities in 19 centres across Europe. Ann. Genet.44(4),209–217 (2001).
   PubMedGoogle Scholar