Management options for echogenic intracardiac focus and choroid plexus cysts: A review including Australian Association of Obstetrical and Gynaecological Ultrasonologists consensus statement

Australasian Radiology

Volumn 51, Issue 4, 2007, Pages 324-329

  Bethune, M ^a,b,c  

^a ROYAL WOMEN'S HOSPITAL   (Australia)

^b MERCY HOSPITAL FOR WOMEN   (Australia)

^c Melbourne Ultrasound for Women Hampton   (Australia)

Author keywords

Down syndrome; Fetus; Prenatal screening; Soft marker; Ultrasound

Indexed keywords

AMNIOCENTESIS; ANEUPLOIDY; ANXIETY DISORDER; ASIAN; CHOROID PLEXUS CYST; CONFIDENCE INTERVAL; CYST; DISEASE MARKER; DOWN SYNDROME; ECHOGENIC INTRACARDIAC FOCUS; ETHNIC DIFFERENCE; FETUS; HEART DISEASE; HIGH RISK POPULATION; HUMAN; PATIENT COUNSELING; PATIENT PARTICIPATION; PRENATAL SCREENING; PREVALENCE; PRIORITY JOURNAL; REVIEW; SECOND TRIMESTER PREGNANCY; TRISOMY 18; ULTRASOUND;

ANEUPLOIDY; AUSTRALIA; BIOLOGICAL MARKERS; CENTRAL NERVOUS SYSTEM CYSTS; CHOROID PLEXUS; CONSENSUS; DOWN SYNDROME; FEMALE; FETAL HEART; GYNECOLOGY; HUMANS; OBSTETRICS; PREGNANCY; PREGNANCY TRIMESTER, SECOND; RISK; SOCIETIES, MEDICAL; ULTRASONOGRAPHY, PRENATAL;

EID: 34447304620     PISSN: 00048461     EISSN: 14401673     Source Type: Journal    
DOI: 10.1111/j.1440-1673.2007.01716.x     Document Type: Review

References (36)

1. Whittle M. Ultrasonic soft markers of fetal chromosome defects, detecting them may do more harm than good. BMJ 1997 314 : 918.
2. Watson MS, Hall C, Langford K, Marteau TM. Physiological impact of the detection of soft markers on routine ultrasound scanning, a pilot study investigating the modifying role of information. Prenat Diagn 2002 22 : 569 75.
3. Tabor A, Philip J, Madsen M, Bang J, Obel EB, Norgaard-Pedersen B. Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet 1986 1 : 1287 93.
4. Seeds JW. Diagnostic mid trimester amniocentesis: how safe? Am J Obstet Gynecol 2004 191 : 607 15.
5. Thilaganathan B, Olawaiye A, Sairam S, Harrington K. Isolated fetal echogenic intracardiac foci or golf balls: is karyotyping for Down's syndrome indicated? Br J Obstet Gynaecol 1999 106 : 1294 97.
6. Smith-Bindman R, Hosmer W, Feldstein VA, Deeks JJ, Goldberg JD. Second-trimester ultrasound to detect fetuses with Down syndrome. JAMA 2001 285 : 1044 55.
7. Schechter AG, Fakhry J, Shapiro LR, Gewitz MH. In utero thickening of the chordae tendinae. A cause of intracardiac echogenic foci. J Ultrasound Med 1987 6 : 691 5.
8. Brown DL, Roberts DJ, Miller WA. Left ventricular echogenic focus in the fetal heart: pathological correlation. J Ultrasound Med 1994 13 : 613 16.
9. Simpson JM, Cook A, Sharland G. The significance of echogenic foci in the fetal heart: a prospective study of 228 cases. Ultrasound Obstet Gynaecol 1996 8 : 225 8.
10. Wax JR, Mather J, Steinfeld JD, Ingardia CJ. Fetal intracardiac echogenic foci: current understanding and clinical significance. Obstet Gynecol Surv 2000 55 : 303 11.
11. Bromley B, Lieberman E, Shipp TD, Richardson M, Benacerraf BR. Significance of an echogenic intracardiac focus in fetuses at high and low risk for aneuploidy. J Ultrasound Med 1998 17 : 127 31.
12. Bromley B, Lieberman E, Laboda L, Benacerraf BR. Echogenic intracardiac focus: a sonographic sign for fetal Down syndrome. Obstet Gynecol 1995 86 : 998 1001.
13. Lehman CD, Nyberg DA, Winter TC III., Kapur RP, Resta RG, Luthy DA. Trisomy 13 syndrome: prenatal ultrasound findings in a review of 33 cases. Radiology 1995 194 : 217 222.
14. Sepulveda W, Cullen S, Nicolaidis P, Hollingsworth J, Fisk NM. Echogenic foci in the fetal heart: a marker of chromosomal abnormality. Br J Obstet Gynaecol 1995 102 : 490 2.
15. 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.
16. Rebarber A, Levey KA, Funai E, Monda S, Paidas M. An ethnic predilection for fetal echogenic intracardiac focus identified during targeted midtrimester ultrasound examination: a retrospective review. BMC Pregnancy Childbirth 2004 4 : 12.
17. Tran SH, Caughey AB, Norton ME. Ethnic variation in the prevalence of echogenic intracardiac foci and the association with Down syndrome. Ultrasound Obstet Gynecol 2005 26 : 158 61.
18. 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.
19. 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.
20. 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.
21. Anderson N, Jyoti R. Relationship of isolated fetal intracardiac echogenic focus to trisomy 21 at the mid-trimester sonogram in women younger than 35 years. Ultrasound Obstet Gynecol 2003 21 : 354 8.
22. Bradley KE, Santulli TS, Gregory KD, Herbert W, Carlson DE, Platt LD. An isolated intracardiac echogenic focus as a marker for aneuploidy. Am J Obstet Gynecol 2005 192 : 2021 8.
23. Caughey AB, Lyell DJ, Filly RA, Washington AE, Norton ME. The impact of use of the isolated intracardiac focus as a screen for Down syndrome in women under the age of 35 years. Am J Obstet Gynecol 2001 185 : 1021 7.
24. Sotiriadis A, Makrydimas G, Ioannidis JPA. Diagnostic performance of intracardiac echogenic foci for Down syndrome: a meta-analysis. Obstet Gynecol 2003 101 : 1009 16.
25. Benacerraf BR, Harlow B, Frigoletto FD Jr. Are choroid plexus cysts an indication for second-trimester amniocentesis? Am J Obstet Gynecol 1990 162 : 1001 6.
26. Chitty LS, Chudleigh P, Wright E, Campbell S, Pembrey M. The significance of choroid plexus cysts in an unselected population: results of a multicenter study. Ultrasound Obstet Gynecol 1998 12 : 391 7.
27. Walkinshaw S, Pilling D, Spriggs A. Isolated choroid plexus cysts - the need for routine offer of karyotyping. Prenat Diagn 1994 14 : 663 7.
28. Bromley B, Lieberman R, Benacerraf BR. Choroid plexus cysts: not associated with Down syndrome. Ultrasound Obstet Gynecol 1996 8 : 232 5.
29. Nyberg DA, Kramer D, Resta RG et al. Prenatal sonographic findings of trisomy 18: review of 47 cases. J Ultrasound Med 1993 12 : 103 13.
30. Choong S, Meagher S. Management of choroid plexus cysts in the mid-trimester. Aust NZ J Obstet Gynecol 1999 39 : 7 11.
31. Ghidini A, Strobelt N, Locatelli A, Mariani E, Piccoli MG, Vergani P. Isolated fetal choroid plexus cysts: role of ultrasonography in establishment of the risk of trisomy 18. Am J Obstet Gynecol 2000 182 : 972 7.
32. Coco C, Jeanty P. Karyotyping of fetuses with isolated choroid plexus cysts is not justified in an unselected population. J Ultrasound Med 2004 23 : 899 906.
33. 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.
34. Bronsteen R, Lee W, Vettraino IM, Huang R, Comstock CH. Second-trimester 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.
35. Filly RA, Benacerraf BR, Nyberg DA, Hobbins JC. Choroid plexus cysts and echogenic intracardiac focus in women at low risk for chromosomal anomalies. J Ultrasound Med 2004 23 : 447 9.
36. Doubilet PM, Copel JA, Benson CB, Bahado-Singh RO, Platt LD. Choroid plexus cysts and echogenic intracardiac focus in women at low risk for chromosomal anomalies - the obligation to inform the mother. J Ultrasound Med 2004 23 : 883 5.