Prenatal detection of fetal trisomy 18 through abnormal sonographic features

Journal of Ultrasound in Medicine

Volumn 22, Issue 6, 2003, Pages 581-590

  Yeo, Lami ^a   Guzman, Edwin R ^a   Day Salvatore, Debra ^a   Walters, Christine ^a   Chavez, Donna ^a   Vintzileos, Anthony M ^a  

^a SAINT PETER S UNIVERSITY HOSPITAL   (United States)

Author keywords

Fetal; Prenatal detection; Sonogram; Sonography; Trisomy 18

Indexed keywords

GENETIC ENGINEERING; SONOCHEMISTRY; ULTRASONICS;

PRENATAL DETECTION;

FETAL MONITORING;

ARTICLE; CENTRAL NERVOUS SYSTEM MALFORMATION; CHOROID PLEXUS; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; DIGESTIVE SYSTEM MALFORMATION; EAR; FETUS; FETUS ECHOGRAPHY; GESTATIONAL AGE; HUMAN; MATERNAL AGE; PRENATAL DIAGNOSIS; RETROSPECTIVE STUDY; SENSITIVITY AND SPECIFICITY; TRISOMY 18;

EID: 0038103697     PISSN: 02784297     EISSN: None     Source Type: Journal    
DOI: 10.7863/jum.2003.22.6.581     Document Type: Article

References (25)

1. Kinoshita M, Nakamura Y, Nakano R, et al. Thirtyone autopsy cases of trisomy 18: clinical features and pathological findings. Pediatr Pathol 1989; 9:445-457.
2. Nyberg DA, Kramer D, Resta RG, et al. Prenatal sonographic findings of trisomy 18: review of 47 cases. J Ultrasound Med 1993; 2:103-113.
3. Bundy AL, Saltzman DH, Pober B, Fine C, Emerson D, Doubilet PM. Antenatal sonographic findings in trisomy 18. J Ultrasound Med 1986; 5:361-364.
4. Shields LE, Carpenter LA, Smith KM, Nghiem HV. Ultrasonographic diagnosis of trisomy 18: is it practical in the early second trimester? J Ultrasound Med 1998; 17:327-331.
5. Benacerraf BR, Harlow B, Frigoletto FD. Are choroid plexus cysts an indication for second-trimester amniocentesis? Am J Obstet Gynecol 1990; 162: 1001-1006.
6. Salihu HM, Boos R, Schmidt W. Antenatally detectable markers for the diagnosis of autosomally trisomic fetuses in at-risk pregnancies. Am J Perinatol 1997; 14:257-261.
7. DeVore GR. Second trimester ultrasonography may identify 77 to 97% of fetuses with trisomy 18. J Ultrasound Med 2000; 19:565-576.
8. Seoud MA, Alley DC, Smith DL, Levy DL. Prenatal sonographic findings in trisomy 13, 18, 21 and 22: a review of 46 cases. J Reprod Med 1994; 39:781-787.
9. Leopold GR. Antepartum obstetrical ultrasound examination guidelines. J Ultrasound Med 1986; 5: 241-242.
10. Nicolaides KH, Salvesen DR, Snijders RJ, Gosden CM. Strawberry-shaped skull in fetal trisomy 18. Fetal Diagn Ther 1992; 7:132-137.
11. Lettieri L, Rodis JF, Vintzileos AM, Feeney L, Ciarleglio L, Craffey A. Ear length in second-trimester aneuploid fetuses. Obstet Gynecol 1993; 81:57-60.
12. Hadlock F, Deter R, Harrist R. Sonographic detection of abnormal fetal growth patterns. Clin Obstet Gynecol 1984; 27:342-351.
13. Benacerraf BR, Miller WA, Frigoletto FD. Sonographic detection of fetuses with trisomies 13 and 18: accuracy and limitations. Am J Obstet Gynecol 1988; 158:404-409.
14. Grandjean H, Larroque D, Levi S. Detection of chromosomal abnormalities: an outcome of ultrasound screening. The Eurofetus Team. Ann NY Acad Sci 1998; 847:136-140.
15. Feuchtbaum LB, Currier RJ, Lorey FW, et al. Prenatal ultrasound findings in affected and unaffected pregnancies that are screen-positive for trisomy 18: the California experience. Prenat Diagn 2000; 20:293-299.
16. Brumfield CG, Wenstrom KD, Owen J, Davis RO. Ultrasound findings and multiple marker screening in trisomy 18. Obstet Gynecol 2000; 95:51-54.
17. Chitkara U, Lee L, Oehlert JW, et al. Fetal ear length measurement: a useful predictor of aneuploidy? Ultrasound Obstet Gynecol 2002; 19:131-135.
18. 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.
19. Lam YH, Tang MH. Sonographic features of fetal trisomy 18 at 13 and 14 weeks: four case reports. Ultrasound Obstet Gynecol 1999; 13:366-369.
20. Isaksen CV, Eik-Nes SH, Blaas HG, Torp SH, Van Der Hagen CB, Ormerod E. A correlative study of prenatal ultrasound and post-mortem findings in fetuses and infants with an abnormal karyotype. Ultrasound Obstet Gynecol 2000; 16:37-45.
21. Paluda SM, Comstock CH, Kirk JS, Lee W, Smith RS. The significance of ultrasonographically diagnosed fetal wrist position anomalies. Am J Obstet Gynecol 1996; 174:1834-1839.
22. Moerman P, Fryns JP, Goddeeris P, Lauweryns JM. Spectrum of clinical and autopsy findings in trisomy 18 syndrome. J Genet Hum 1982; 30:17-38.
23. Matsuoka R, Misugi K, Goto A, Gilbert EF, Ando M. Congenital heart anomalies in the trisomy 18 syndrome, with reference to congenital polyvalvular disease. Am J Med Genet 1983; 14:657-668.
24. 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; 93:869-872.
25. Snijders RJ, Shawa L, Nicolaides KH. Fetal choroid plexus cysts and trisomy 18: assessment of risk based on ultrasound findings and maternal age. Prenat Diagn 1994; 14:1119-1127.