Volume 48, Issue 4 , Pages 342-349, December 2009
Prenatal Sonographic Features of Fetuses in Trisomy 13 Pregnancies (III)
Article Outline
Summary
Prenatal ultrasound is a powerful tool for the detection of structural abnormalities of fetuses in trisomy 13 pregnancies. This article provides a comprehensive review of the prenatal sonographic features of trisomy 13 fetuses in the second and third trimesters, including cystic hygroma and nuchal edema, congenital heart defects, hydrops fetalis, omphalocele, diaphragmatic hernia, urinary tract abnormalities, and abnormal extremities and polydactyly.
Key Words: congenital malformations , prenatal diagnosis , trisomy 13 , ultrasound
No full text is available. To read the body of this article, please view the PDF online.
References
- . Prenatal sonographic features of fetuses in trisomy 13 pregnancies (I) . Taiwan J Obstet Gynecol . 2009;48:210–217
- . Fetal nuchal cystic hygromata: associated malformations and chromosomal defects . Fetal Diagn Ther . 1991;6:46–57
- . Fetal abnormalities . In: Snijders RJ , Nicolaides KH editor. Ultrasound Markers for Fetal Chromosomal Defects . New York: Parthenon Publishing Group; 1996;p. 1–62
- . Fetal nuchal oedema: associated malformations and chromosomal defects . Fetal Diagn Ther . 1992;7:123–131
- . Ultrasonographically detectable markers of fetal chromosomal abnormalities . Lancet . 1992;340:704–707
- . Sonographically determined anomalies and outcome in 170 chromosomally abnormal fetuses . Prenat Diagn . 1995;15:431–438
- . Trisomy 13 syndrome: prenatal US findings in a review of 33 cases . Radiology . 1995;194:217–222
- . Contribution of ultrasono-graphic examination to the prenatal detection of chromosomal abnormalities in 19 centres across Europe . Ann Genet . 2001;44:209–217
- . Sonographic features of trisomy 13 at midpregnancy . Int J Gynaecol Obstet . 2002;76:143–148
- . Prenatal diagnosis of trisomy 13: analysis of 28 cases . J Ultrasound Med . 2006;25:429–435
- . Fetal karyotype from cystic hygroma fluid . Prenat Diagn . 1992;12:139–143
- First-trimester simple hygroma: cause and outcome . Am J Obstet Gynecol . 1993;168:156–161
- . The natural history of euploid pregnancies with first-trimester cystic hygromas . Am J Obstet Gynecol . 1994;170:1279–1284
- First-trimester or second-trimester screening, or both, for Down's syndrome . N Engl J Med . 2005;353:2001–2011
- . Karyotype and outcome of fetuses diagnosed with cystic hygroma in the first trimester in relation to nuchal translucency thickness . Prenat Diagn . 2006;26:369–372
- . Characteristics and outcome of fetal cystic hygroma diagnosed in the first trimester . Acta Obstet Gynecol Scand . 2007;86:1442–1446
- . Cystic hygromas, nuchal edema, and nuchal translucency at 11–14 weeks of gestation . Obstet Gynecol . 2006;107:678–683
- . The evolution of specific genetic and environmental counseling in congenital heart diseases . Circulation . 1978;57:205–213
- . Trisomy 13 syndrome . In: Jones KL editors. Smith's Recognizable Patterns of Human Malformation . Philadelphia: Elsevier Saunders; 2006;p. 18–21
- . The impact of gestational age on the sonographic detection of aneuploidy . Am J Obstet Gynecol . 2005;193:1243–1247
- . Sonographic detection of trisomy 13 in the first and second trimesters of pregnancy . J Ultrasound Med . 2007;26:1209–1214
- . Causes of malformations of the heart . Br Med J . 1965;2:895–904
- . Contribution of chromosome abnormalities to human morbidity and mortality . Cytogenet Cell Genet . 1982;33:101–106
- . Congenital heart disease . In: Rimoin DL , Connor JM , Pyeritz RE , Korf BR editor. Emery and Rimoin's Principles and Practice of Medical Genetics . 5th edition. Philadelphia: Elsevier Churchill Livingstone; 2007;p. 1083–1159
- . Prenatal diagnosis and management of congenital heart defect: significance of associated fetal anomalies and prenatal chromosome studies . Am J Med Genet . 1985;21:285–290
- . The frequency of aneuploidy in prenatally diagnosed congenital heart disease: an indication for fetal karyotyping . Am J Obstet Gynecol . 1988;158:409–413
- . Prenatal diagnosis of congenital heart disease and fetal karyotyping . Obstet Gynecol . 1993;81:679–682
- . Predicting aneuploidy in fetuses with cardiac anomalies: significance of visceral situs and noncardiac anomalies . J Ultrasound Med . 1993;12:153–161
- . Prenatal diagnosis of heart defects and associated chromosomal aberrations . Ultraschall Med . 1999;20:177–184 [In German]
- . Outcome of fetuses diagnosed with atrioventricular septal defect . Obstet Gynecol . 1999;94:763–767
- . Atrioventricular septal defects diagnosed in fetal life: associated cardiac and extra-cardiac abnormalities and outcome . J Am Coll Cardiol . 2000;36:593–601
- Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses . Ultrasound Obstet Gynecol . 2009;33:552–559
- . Nonimmune hydrops fetalis associated with genetic abnormalities . Obstet Gynecol . 1990;75:568–572
- . Fetal gastro-intestinal and abdominal wall defects: associated malformations and chromosomal abnormalities . Fetal Diagn Ther . 1992;7:102–115
- Omphalocele and gastroschisis: a collaborative study of five Italian congenital malformation registries . Teratology . 1993;47:47–55
- . Prenatal diagnosis and management of the fetus with an abdominal wall defect . Semin Perinatol . 1994;18:196–214
- . Fetal exomphalos at 11 to 14 weeks of gestation . J Ultrasound Med . 1995;14:569–574
- . Fetal exomphalos and chromosomal defects: relationship to maternal age and gestation . Ultrasound Obstet Gynecol . 1995;6:250–255
- . Chromosomal anomalies in newborns with omphalocele . J Pediatr Surg . 1996;31:831–834
- . Fetal omphalocele detected early in pregnancy: associated anomalies and outcomes . Radiology . 2004;232:191–195
- . Chromosomal abnormalities associated with omphalocele . Taiwan J Obstet Gynecol . 2007;46:1–8
- . Sonographic screening for trisomy 13 at 11 to 13+6 weeks of gestation . Am J Obstet Gynecol . 2006;194:397–401
- . Congenital diaphragmatic hernia: a meta-analysis of mortality factors . J Pediatr Surg . 2000;35:1187–1197
- . Associated malformations and chromosomal defects in congenital diaphragmatic hernia . Fetal Diagn Ther . 1995;10:52–59
- Congenital malformations of the diaphragm: findings of the West Midlands Congenital Anomaly Register 1995 to 2000 . Prenat Diagn . 2004;24:596–604
- . Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH . Am J Med Genet C Semin Med Genet . 2007;145C:158–171
- . Genetic aspects of human congenital diaphragmatic hernia . Clin Genet . 2008;74:1–15
- . Etiologic and genetic factors in congenital diaphragmatic hernia . Clin Perinatol . 1996;23:689–699
- . The genetics of congenital diaphragmatic hernia . Semin Perinatol . 2005;29:77–85
- . Genetic factors in congenital diaphragmatic hernia . Am J Hum Genet . 2007;80:825–845
- . Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review . Am J Med Genet . 1998;79:215–225
- Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature . Prenat Diagn . 2004;24:455–462
- . Where to look for the genes related to diaphragmatic hernia? . Genet Couns . 2003;14:75–93
- . Prenatal diagnosis of congenital diaphragmatic hernia: associated malformations and chromosomal defects . Fetal Ther . 1989;4:21–28
- Structural chromosome anomalies in congenital diaphragmatic hernia . Prenat Diagn . 1996;16:1003–1009
- . Congenital diaphragmatic herniation: antenatal detection and outcome . Br J Radiol . 2000;73:360–365
- . Associated malformations in cases with congenital diaphragmatic hernia . Genet Couns . 2008;19:331–339
- . Fetal renal defects: associated malformations and chromosomal defects . Fetal Diagn Ther . 1992;7:1–11
- . Chromosomal abnormalities . In: Nyberg DA , McGahan JP , Pretorius DH , Pilu G editor. Diagnostic Imaging of Fetal Anomalies . Philadelphia: Lippincott Williams & Wilkins; 2003;p. 861–906
- . Associated anomalies in individuals with polydactyly . Am J Med Genet . 1998;80:459–465
- . Prenatal sonographic features of fetuses in trisomy 13 pregnancies (II) . Taiwan J Obstet Gynecol . 2009;48:218–224
PII: S1028-4559(09)60322-3
doi:10.1016/S1028-4559(09)60322-3
© 2009 Taiwan Association of Obstetrics and Gynecology. Published by Elsevier Inc. All rights reserved.
Volume 48, Issue 4 , Pages 342-349, December 2009
