Prenatal Tanı Alan Artrogripozis Multipleks Konjenita Olgusu

Abstract

Artrogripozis multipleks konjenita (AMK), fetal hareketlerde azalma (fetal akinezi), fetal büyüme kısıtlaması (FBK), çoklu eklem kontraktürleri (artrogripozis), yüz anomalileri, akciğerlerde gelişimsel bozukluklar (pulmoner hipoplazi) ve diğer gelişimsel anormalliklerle karakterize bir klinik tablodur. Bu durumun gerçek bir tanı veya spesifik bir sendrom olmadığı, daha ziyade fetal hareketlerde azalma sonucu oluşan bir grup anormalliğin tanımı olduğu genel olarak kabul edilmektedir. Birçok artrogripozis vakasında etiyoloji henüz belirlenememiştir. Ailelere yeterli danışmanlık sağlamak için AMC'nin prenatal tanısı kritik öneme sahiptir. Prenatal ultrasonda (US) multipl konjenital kontraktürleri olan bir fetüs tespit edildiğinde, gebe kadının yönetimi multidisipliner bir ekip tarafından yapılmalıdır. Bu yazıda, prenatal dönemde tespit edilen bir AMK vakası, US ve fetal manyetik rezonans görüntüleme (MRG) bulgularıyla birlikte sunulmuştur.

Keywords

• Fetal akinezi
• artrogripozis multipleks konjenita
• doğum öncesi ultrason
• fetal manyetik rezonans görüntüleme

A Case of Prenatally Diagnosed Arthrogryposis Multiplex Congenita

Abstract

Arthrogryposis multiplex congenita (AMC) is a clinical entity characterized by reduced fetal movements (fetal akinesia), fetal growth restriction (FGR), joint contractures (arthrogryposis), facial anomalies, lung developmental delay (pulmonary hypoplasia), and other developmental abnormalities. It is accepted that this condition is a description of a group of abnormalities resulting from reduced fetal movements rather than a true diagnosis or a specific syndrome. In many arthrogryposis cases, the etiology has not yet been determined. Prenatal diagnosis of AMC is critical for providing adequate counseling to families. When a fetus with multiple congenital contractures is detected on prenatal ultrasound (US), management of the pregnant woman should be undertaken by a multidisciplinary team. In this report, a case of AMC detected in the prenatal period, together with US and fetal magnetic resonance imaging (MRI) findings, was presented.

Keywords

• Fetal akinesia
• arthrogryposis multiplex congenita
• prenatal ultrasound
• fetal magnetic resonance imaging

References

1. Parlakgümüş HA, Tarım E, Küçükgöz Ü. Fetal akinesia/hypokinesia deformation sequence (FADS): two and three dimentional ultrasound presentation. Turkiye Klinikleri J Gynecol Obst. 2008;18(5):336-9.
2. Takada E, Koyama N, Ogawa Y, Itoyama S, Takashima S. Neuropathology of infant with Pena-Shokeir I syndrome. Pediatr Neurol. 1994;10(3):241-3.
3. Lowry RB, Sibbald B, Bedard T, Hall JG. Prevalence of multiple congenital contractures including arthrogryposis multiplex congenita in Alberta, Canada, and a strategy for classification and coding. Birth Defects Res A Clin Mol Teratol. 2010;88(12):1057-61.
4. Sharon-Weiner M, Sukenik-Halevy R, Tepper R, Fishman A, Biron-Shental T, Markovitch O. Diagnostic accuracy, work-up, and outcomes of pregnancies with clubfoot detected by prenatal sonography. Prenat Diagn. 2017;37(8):754-763.
5. Canto MJ, Cano S, Palau J, Ojeda F. Prenatal diagnosis of clubfoot in low-risk population: associated anomalies and long-term outcome. Prenat Diagn. 2008;28(4):343-6.
6. Lauson S, Alvarez C, Patel MS, Langlois S. Outcome of prenatally diagnosed isolated clubfoot. Ultrasound Obstet Gynecol. 2010;35(6):708-14.
7. Tjon JK, Tan-Sindhunata MB, Bugiani M, Witbreuk MMEH, van der Sluijs JA, Weiss MM, et al. Care pathway for foetal joint contractures, foetal akinesia deformation sequence, and arthrogryposis multiplex congenita. Fetal Diagn Ther. 2021;48(11-12):829-39.
8. Niles KM, Blaser S, Shannon P, Chitayat D. Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis and management. Prenat Diagn. 2019;39(9):720-31.

9. DeMyer W, Baird I. Mortality and skeletal malformations from amniocentesis and oligohydromnios in rats: cleft palata, clubfoot, microstomia and adactyly. Teratology. 1969;2(1):33-7.
10. Moessinger AC. Fetal akinesia deformation sequence: an animal model. Pediatrics. 1983;72(6):857-63.
11. Coste B, Houge G, Murray MF, Stitziel N, Bandell M, Giovanni MA, et al. Gain-of-function mutations in the mechanically activated ion channel PIEZ02 cause a subtype of distal arthrogryposis. Proc Natl Acad Sci USA. 2013;110(12): 4667-72.
12. Hall JG. Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics and general principles. Eur J Med Genet. 2014;57(8):464-72.
13. Beecroft SJ, Lombard M, Mowat D, McLean C, Cairns A, Davis M, et al. Genetics of neuromuscular fetal akinesia in the genomics era. J Med Genet. 2018;55(8):505-14.
14. Adam S, Coetzee M, Honey EM. Pena-Shokeir syndrome: current management strategies and palliative care. Appl Clin Genet. 2018;11:111-20.
15. Busack B, Ott CE, Henrich W, Verlohren S. Prognostic significance of prenatal ultrasound in fetal arthrogryposis multiplex congenita. Arch Gynecol Obstet 2021;303(4):943-53.
16. Shafqat G, Fatima K, Hanif F. Foetal Akinesia deformation sequence: a rare lethal entity. J Pak Med Assoc. 2023;73(11):2266-8.
17. Muller LM, de Jong G. Prenatal ultrasonographic features of the Pena-Shokeir I syndrome and trisomy 18 syndrome. Am J Med Genet. 1986;25(1):119-29.
18. Smith FW, Adam AH, Phillips WD. NMR imaging in pregnancy. Lancet. 1983;1(8314-5):61-2.
19. Prayer D, Brugger PC. Investigation of normal organ development with fetal MRI. Eur Radiol. 2007;17(10):2458-71.