Volume 47, Issue 1 , Pages 75-78, March 2008
The Application of Three-dimensional Ultrasonography in the Prenatal Diagnosis of Arthrogryposis
Article Outline
Summary
Objective
To present the application of three-dimensional (3D) ultrasonography in the early prenatal diagnosis of fetal arthrogryposis.
Case Report
A 26-year-old multipara had a fetus with anomalies of the limbs as shown by conventional ultrasonography at 18 weeks of gestation. A follow-up 3D ultrasonogram at the same gestational age was consistent with the diagnosis of arthrogryposis. Based on an abnormal chromosome 18p on the fetal karyotype, termination of the pregnancy was performed at 22 weeks' gestation. The outward appearance of the fetus coincided with the prenatal sonographic findings of arthrogryposis.
Conclusion
As an advanced and sophisticated technology, 3D ultrasonography can serve as a useful technique for the early diagnosis of fetal anomalies, including arthrogryposis. The earlier the diagnosis is established, the earlier the appropriate management can be initiated, including counseling, additional work-up and timely termination of pregnancy, if indicated.
Key Words: arthrogryposis , prenatal diagnosis , three-dimensional ultrasonography
No full text is available. To read the body of this article, please view the PDF online.
References
- . Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects . J Pediatr Orthop B . 1997;6:159–166
- . Arthrogryposis multiplex congenita . Brain Dev . 1998;20:507–511
- . Arthrogryposis multiplex congenita . J Hand Surg [Br] . 2005;30:468–474
- . Genetic aspects of arthrogryposis . Clin Orthop Relat Res . 1985;194:44–53
- . A family with severe X-linked arthrogryposis . Eur J Pediatr . 1991;150:656–660
- . A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3–q11.2 . Hum Mol Genet . 1995;4:1213–1216
- Newly described form of X-linked arthrogryposis maps to the long arm of the human X chromosome . Am J Med Genet . 1998;78:450–454
- . A gene for arthrogryposis multiplex congenita neuropathic type is linked to D5S394 on chromosome 5qter . Am J Hum Genet . 1997;61:1139–1143
- . Fine mapping places the gene for arthrogryposis multiplex congenita neuropathic type between D5S394 and D5S2069 on chromosome 5qter . Am J Med Genet . 2001;104:152–156
- Arthrogryposis multiplex congenita (AMC), a hereditary disease in swine, maps to chromosome 5 by linkage analysis . Mamm Genome . 2004;15:935–941
- . The etiology of arthrogryposis (multiple congenital contracture) . Clin Orthop Relat Res . 1985;194:15–29
- . Arthrogryposis multiplex congenita: prenatal ultrasonographic diagnosis . J Clin Ultrasound . 1989;17:40–44
- . Prenatal diagnosis of distal arthrogryposis . Am J Med Genet . 1988;29:501–510
- . Prenatal diagnosis of distal arthrogryposis type 1 . Skeletal Radiol . 1999;28:233–235
- . Early prenatal sonographic diagnosis of neuropathic arthrogryposis multiplex congenita with osseous heterotopia . Prenat Diagn . 1993;13:411–416
- . Hypoechogenicity of fetal long bones: a new ultrasound marker for arthrogryposis . Prenat Diagn . 2002;22:1219–1222
- . Non-lethal arthrogryposis multiplex congenita presenting with cystic hygroma at 13 weeks gestational age . Prenat Diagn . 1999;19:966–971
- . Lethal congenital arthrogryposis presents with increased nuchal translucency at 10–14 weeks of gestation . Ultrasound Obstet Gynecol . 1997;9:310–313
- . Prenatal diagnosis of arthrogryposis multiplex congenita with increased nuchal translucency but without any underlying fetal neurogenic or myogenic pathology . Fetal Diagn Ther . 2002;17:29–33
- . Three-dimensional ultrasonographic appearance of the fetal akinesia deformation sequence . J Ultrasound Med . 2003;22:593–599
PII: S1028-4559(08)60058-3
doi:10.1016/S1028-4559(08)60058-3
© 2008 Taiwan Association of Obstetric & Gynecology. Published by Elsevier Inc. All rights reserved.
Volume 47, Issue 1 , Pages 75-78, March 2008
