Fetal akinesia deformation sequence: a case report and review of literature

Reena Abraham, B. Devi

Abstract


Fetal Akinesia Deformation Sequence (FADS) is a condition characterised by decreased fetal movement (fetal akinesia), multiple joint contractures (arthrogryposis), facial anomalies, intrauterine growth restriction, pulmonary hypoplasia and other developmental abnormalities. These disorders are clinically and genetically heterogenous and its etiology remains unclear. This syndrome is rare and the primary diagnosis is made when lack of mobility is noted in routine ultrasound scanning. The increasing use of ultrasound has enabled earlier detection of these cases. A 20 year old primi in her routine ultrasound at 14weeks of gestation showed features fetal akinesia deformation sequence with increased nuchal translucency and hydrops. Early diagnosis, prenatal evaluation and better understanding of the ultrasound findings will be helpful for genetic counselling and clinical management. 


Keywords


Fetal akinesia sequence, Prenatal diagnosis

Full Text:

PDF

References


Chen CP. Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndromes associated with neuromuscular junction disorders: a review. Taiwan J Obstet Gynaecol. 2012 Mar;51(1):12-7.

Harold Chen. Fetal akinesia sequence. In: Harold Chen, eds. Atlas of Genetic Diagnosis and Counselling. 1st ed. New Jersey: Humana Press; 2006: 398-402.

Ravenscroft G, Sollis E, Charles AK, North KN, Baynam G, Laing NG. Fetal akinesia: review of the genetics of the neuromuscular causes. J Med Genet. 2011;48;793-801.

Kalampokas E, Kalampokas T, Sofoudis C, Deligeoroglou E, Botsis D. Diagnosing arthrogryposis multiplex congenita: a review. ISRN Obstet Gynaecol. 2012;2012:264918.

Navti OB, Kinning E, Vasudevan P, Barrow M, Porter H, Howarth E, et al. Review of perinatal management of arthrogryposis at a large UK teaching hospital serving a multiethnic population. Prenat Diagn. 2010;30(1):49-56.

Witters I, Moerman P, Fryns JP. Fetal akinesia deformation sequence: a study of 30 consecutive in utero diagnoses. Am J Med Genet. 2002;113(1):23-8.

B. D. Rink. Arthrogryposis: a review and approach to prenatal diagnosis. Obstet Gynaecol Surv. 2011;66(6):369-77.

Hall JG. Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J Paediatr Orthop B. 1997;6(3):159-66.

Polizzi A, Huson SM, Vincent A. Teratogen update: maternal myasthenia gravis as a cause of congenital arthrogryposis. Teratology. 2000;62(5):332-41.

Barnes PR, Kanabar DJ, Brueton L, Newsom-Davis J, Huson SM, Mann NP, et al. Recurrent congenital arthrogryposis leading to a diagnosis of myasthenia gravis in an initially asymptomatic mother. Neuromuscul Disord. 1995;5(1):59-65.

Darin N, Kimber E, Kroksmark AK, Tulinius M. Multiple congenital contractures: birth prevalence, etiology, and outcome. J Paediatrics. 2002;140(1):61-7.

Hammond E, Donnenfeld AE. Fetal akinesia. Obstet Gynaecol Surv. 1995;50(3):240-9.

Coelho KE, Sarmento MF, Veiga CM, Speck-Martins CE, Safatle HP, Castro CV, et al. Misoprostol embryotoxicity: clinical evaluation of fifteen patients with arthrogryposis. Am J Med Genet. 2000;95(4):297-301.

14. Scott H, Hunter A, Bedard B. Non-lethal arthrogryposis multiplex congenita presenting with cystic hygroma at 13 weeks gestational age. Prenatal Diagnosis. 1999; 19(10):966–971.

Hyett J, Noble P, Sebire NJ, Snijders R, Nicolaides KH. Lethal congenital arthrogryposis presents with increased nuchal translucency at 10-14 weeks of gestation. Ultrasound Obstet Gynaecol. 1997;9(5):310-3.

Kurjak A, Vecek N, Hafner T, Bozek T, Funduk-Kurjak B, Ujevic B. Prenatal diagnosis: what does four-dimensional ultrasound add? J Perinat Med. 2002;30(1):57-62.

Brooks JG Jr, Coster DJ. Arthrogryposis multiplex congenita: a report of two cases. Aust N Z J Ophthalmol. 1994;22(2):127-32.

Boyd PA, Tondi F, Hicks NR, Chamberlain PF. Autopsy after termination of pregnancy for fetal anomaly: retrospective cohort study. Br Med J. 2004;328(7432):137-40.