Browse > Article
http://dx.doi.org/10.5734/JGM.2014.11.2.49

Second-trimester fetal genetic ultrasonography to detect chromosomal abnormalities  

Hong, Seong-Yeon (Department of Obstetrics and Gynecology, Catholic University of Daegu)
Publication Information
Journal of Genetic Medicine / v.11, no.2, 2014 , pp. 49-55 More about this Journal
Abstract
Genetic ultrasonography refers to the evaluation of risk of chromosomal abnormalities via various soft sonographic markers. Although the maternal serum test is the primary screening method for chromosomal abnormalities, genetic ultrasonography is also widely used and can help increase detection rates. To date, many soft markers, including choroid plexus cysts, echogenic intracardiac foci, mild ventriculomegaly, nuchal fold thickening, echogenic bowel, mild pyelectasis, short femur and humerus length, and absent or hypoplastic nasal bone, have been reported. An aberrant right subclavian artery was the most novel soft marker introduced. Because these soft markers involve diverse relative risks of chromosomal abnormalities, it is difficult to apply them to clinical practice. To optimize the efficacy of genetic ultrasonography, it is important to understand the precise relative risks of chromosomal abnormalities innumerous soft markers and integrate these risks with each other and the results of maternal serum screening.
Keywords
Genetic ultrasonography; Chromosome aberrations; Down syndrome; Soft marker;
Citations & Related Records
연도 인용수 순위
  • Reference
1 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 2004;23:447-9.   DOI
2 Bronsteen R, Lee W, Vettraino IM, Huang R, Comstock CH. Secondtrimester sonography and trisomy 18: the significance of isolated choroid plexus cysts after an examination that includes the fetal hands. J Ultrasound Med 2004;23:241-5.   DOI
3 Gupta JK, Cave M, Lilford RJ, Farrell TA, Irving HC, Mason G, et al. Clinical significance of fetal choroid plexus cysts. Lancet 1995;346:724-9.   DOI
4 Bahado-Singh RO, Oz UA, Mendilcioglu I, Mahoney MJ. The midtrimester genetic sonogram. Semin Perinatol 2005;29:209-14.   DOI
5 Sotiriadis A, Makrydimas G, Ioannidis JP. Diagnostic performance of intracardiac echogenic foci for Down syndrome: a meta-analysis. Obstet Gynecol 2003;101:1009-16.   DOI
6 Shipp TD, Bromley B, Lieberman E, Benacerraf BR. The frequency of the detection of fetal echogenic intracardiac foci with respect to maternal race. Ultrasound Obstet Gynecol 2000;15:460-2.   DOI   ScienceOn
7 Simpson JM, Cook A, Sharland G. The significance of echogenic foci in the fetal heart: a prospective study of 228 cases. Ultrasound Obstet Gynecol 1996;8:225-8.   DOI
8 Roberts DJ, Genest D. Cardiac histologic pathology characteristic of trisomies 13 and 21. Hum Pathol 1992;23:1130-40.   DOI   ScienceOn
9 Bromley B, Lieberman E, Laboda L, Benacerraf BR. Echogenic intracardiac focus: a sonographic sign for fetal Down syndrome. Obstet Gynecol 1995;86:998-1001.   DOI
10 Manning JE, Ragavendra N, Sayre J, Laifer-Narin SL, Melany ML, Grant EG, et al. Significance of fetal intracardiac echogenic foci in relation to trisomy 21: a prospective sonographic study of high-risk pregnant women. AJR Am J Roentgenol 1998;170:1083-4.   DOI
11 Coco C, Jeanty P, Jeanty C. An isolated echogenic heart focus is not an indication for amniocentesis in 12,672 unselected patients. J Ultrasound Med 2004;23:489-96.   DOI
12 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;20:1053-63.   DOI
13 Hall B. Mongolism in newborn infants. An examination of the criteria for recognition and some speculations on the pathogenic activity of the chromosomal abnormality. Clin Pediatr (Phila) 1966;5:4-12.   DOI
14 Benacerraf BR, Laboda LA, Frigoletto FD. Thickened nuchal fold in fetuses not at risk for aneuploidy. Radiology 1992;184:239-42.   DOI
15 Borrell A, Costa D, Martinez JM, Delgado RD, Casals E, Ojuel J, et al. Early midtrimester fetal nuchal thickness: effectiveness as a marker of Down syndrome. Am J Obstet Gynecol 1996;175:45-9.   DOI   ScienceOn
16 Bahado-Singh RO, Oz UA, Kovanci E, Deren O, Feather M, Hsu CD, et al. Gestational age standardized nuchal thickness values for estimating mid-trimester Down's syndrome risk. J Matern Fetal Med 1999;8:37-43.
17 Locatelli A, Piccoli MG, Vergani P, Mariani E, Ghidini A, Mariani S, et al. Critical appraisal of the use of nuchal fold thickness measurements for the prediction of Down syndrome. Am J Obstet Gynecol 2000;182:192-7.   DOI
18 Rochon M, Eddleman K. Controversial ultrasound findings. Obstet Gynecol Clin North Am 2004;31:61-99.   DOI   ScienceOn
19 Slotnick RN, Abuhamad AZ. Prognostic implications of fetal echogenic bowel. Lancet 1996;347:85-7.   DOI
20 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;285:1044-55.   DOI   ScienceOn
21 Benacerraf BR, Neuberg D, Frigoletto FD Jr. Humeral shortening in second-trimester fetuses with Down syndrome. Obstet Gynecol 1991;77:223-7.   DOI   ScienceOn
22 Benacerraf BR, Cnann A, Gelman R, Laboda LA, Frigoletto FD Jr. Can sonographers reliably identify anatomic features associated with Down syndrome in fetuses? Radiology 1989;173:377-80.   DOI
23 Benacerraf BR, Mandell J, Estroff JA, Harlow BL, Frigoletto FD Jr. Fetal pyelectasis: a possible association with Down syndrome. Obstet Gynecol 1990;76:58-60.
24 Bahado-Singh RO, Oz AU, Kovanci E, Deren O, Copel J, Baumgarten A, et al. New Down syndrome screening algorithm: ultrasonographic biometry and multiple serum markers combined with maternal age. Am J Obstet Gynecol 1998;179:1627-31.   DOI
25 Johnson MP, Michaelson JE, Barr M Jr, Treadwell MC, Hume RF Jr, Dombrowski MP, et al. Combining humerus and femur length for improved ultrasonographic identification of pregnancies at increased risk for trisomy 21. Am J Obstet Gynecol 1995;172:1229-35.   DOI   ScienceOn
26 Nyberg DA, Resta RG, Luthy DA, Hickok DE, Williams MA. Humerus and femur length shortening in the detection of Down's syndrome. Am J Obstet Gynecol 1993;168:534-8.   DOI
27 Havutcu AE, Nikolopoulos G, Adinkra P, Lamont RF. The association between fetal pyelectasis on second trimester ultrasound scan and aneuploidy among 25,586 low risk unselected women. Prenat Diagn 2002;22:1201-6.   DOI
28 Chaoui R, Heling KS, Sarioglu N, Schwabe M, Dankof A, Bollmann R. Aberrant right subclavian artery as a new cardiac sign in second- and third-trimester fetuses with Down syndrome. Am J Obstet Gynecol 2005;192:257-63.   DOI
29 Edwards JE. Malformations of the aortic arch system manifested as vascular rings. Lab Invest 1953;2:56-75.
30 Zapata H, Edwards JE, Titus JL. Aberrant right subclavian artery with left aortic arch: associated cardiac anomalies. Pediatr Cardiol 1993;14:159-61.   DOI
31 Benacerraf BR, Neuberg D, Bromley B, Frigoletto FD Jr. Sonographic scoring index for prenatal detection of chromosomal abnormalities. J Ultrasound Med 1992;11:449-58.   DOI
32 Rathore MH, Sreenivasan VV. Vertebral and right subclavian artery abnormalities in the Down syndrome. Am J Cardiol 1989;63:1528-9.   DOI
33 Yoo SJ, Min JY, Lee YH, Roman K, Jaeggi E, Smallhorn J. Fetal sonographic diagnosis of aortic arch anomalies. Ultrasound Obstet Gynecol 2003;22:535-46.   DOI
34 Agathokleous M, Chaveeva P, Poon LC, Kosinski P, Nicolaides KH. Meta-analysis of second-trimester markers for trisomy 21. Ultrasound Obstet Gynecol 2013;41:247-61.   DOI
35 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 1997;10:321-4.   DOI
36 Nyberg DA, Luthy DA, Resta RG, Nyberg BC, Williams MA. Ageadjusted 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.   DOI   ScienceOn
37 Winter TC, Uhrich SB, Souter VL, Nyberg DA. The "genetic sonogram": comparison of the index scoring system with the age-adjusted US risk assessment. Radiology 2000;215:775-82.   DOI
38 Gray DL, Crane JP. Optimal nuchal skin-fold thresholds based on gestational age for prenatal detection of Down syndrome. Am J Obstet Gynecol 1994;171:1282-6.   DOI   ScienceOn
39 Yoder PR, Sabbagha RE, Gross SJ, Zelop CM. The second-trimester fetus with isolated choroid plexus cysts: a meta-analysis of risk of trisomies 18 and 21. Obstet Gynecol 1999;93:869-72.   DOI
40 Vibhakar NI, Budorick NE, Scioscia AL, Harby LD, Mullen ML, Sklansky MS. Prevalence of aneuploidy with a cardiac intraventricular echogenic focus in an at-risk patient population. J Ultrasound Med 1999;18:265-8; quiz 269-70.   DOI
41 Chudleigh PM, Chitty LS, Pembrey M, Campbell S. The association of aneuploidy and mild fetal pyelectasis in an unselected population: the results of a multicenter study. Ultrasound Obstet Gynecol 2001;17:197-202.   DOI   ScienceOn
42 De Leon-Luis J, Gamez F, Bravo C, Tenías JM, Arias A, Perez R, et al. Second-trimester fetal aberrant right subclavian artery: original study, systematic review and meta-analysis of performance in detection of Down syndrome. Ultrasound Obstet Gynecol 2014;44:147-53.