Fetal arthrogryposis-what do we tell the prospective parents?
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
06 2023
06 2023
Historique:
revised:
11
12
2022
received:
03
11
2022
accepted:
29
12
2022
medline:
12
6
2023
pubmed:
3
1
2023
entrez:
2
1
2023
Statut:
ppublish
Résumé
Arthrogryposis, also termed arthrogryposis multiplex congenita, is a descriptive term for conditions with multiple congenital contractures (MCC). The etiology is extremely heterogeneous. More than 400 specific disorders have been identified so far, which may lead to or are associated with MCC and/or fetal hypo- and akinesia as a clinical sign. With improved sensitivity of prenatal ultrasound and expanding prenatal diagnostic options, clinicians are tasked with providing early detection in order to counsel the prospective parents regarding further prenatal diagnostic as well as management options. We summarize the most important knowledge to raise awareness for early detection in pregnancy. We review essential points for counseling when MCC is detected in order to provide answers to common questions, which, however, cannot replace interdisciplinary expert opinion in the individual case.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
798-805Informations de copyright
© 2023 John Wiley & Sons Ltd.
Références
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 [Internet]. Birth Defects Res A Clin Mol Teratol. 2010;88(12):1057-1061. https://doi.org/10.1002/bdra.20738. https://www.ncbi.nlm.nih.gov/pubmed/21157886
Filges I, Hall JG. Failure to identify antenatal multiple congenital contractures and fetal akinesia-proposal of guidelines to improve diagnosis [Internet]. Prenat Diagn. 2013;33(1):61-74. https://doi.org/10.1002/pd.4011. https://www.ncbi.nlm.nih.gov/pubmed/23296716
Filges I, Tercanli S, Hall JG. Fetal arthrogryposis: challenges and perspectives for prenatal detection and management [Internet]. Am J Med Genet C Semin Med Genet. 2019;181(3):327-336. https://doi.org/10.1002/ajmg.c.31723. https://www.ncbi.nlm.nih.gov/pubmed/31318155
Hall JG. Arthrogryposis (multiple congenital contractures): diagnostic approach to etiology, classification, genetics, and general principles [Internet]. Eur J Med Genet. 2014;57(8):464-472. https://doi.org/10.1016/j.ejmg.2014.03.008. https://www.ncbi.nlm.nih.gov/pubmed/24704792
Hall JG, Kimber E, Dieterich K. Classification of arthrogryposis. Am J Med Genet C Semin Med Genet. 2019;181(3):300-303. https://doi.org/10.1002/ajmg.c.31716
Sells JM, Jaffe KM, Hall JG. Amyoplasia, the most common type of arthrogryposis: the potential for good outcome [Internet]. Pediatrics. 1996;97(2):225-231. https://doi.org/10.1542/peds.97.2.225. https://www.ncbi.nlm.nih.gov/pubmed/8584382
Hall JG. Amyoplasia involving only the upper limbs or only involving the lower limbs with review of the relevant differential diagnoses [Internet]. Am J Med Genet. 2014;164A(4):859-873. https://doi.org/10.1002/ajmg.a.36397. https://www.ncbi.nlm.nih.gov/pubmed/24459095
Hall JG, Aldinger KA, Tanaka KI. Amyoplasia revisited [Internet]. Am J Med Genet. 2014;164A(3):700-730. https://doi.org/10.1002/ajmg.a.36395. https://www.ncbi.nlm.nih.gov/pubmed/24459070
Hall JG. Using the term amyoplasia loosely can lead to confusion [Internet]. Am J Hum Genet. 2020;107(6):1186-1187. https://doi.org/10.1016/j.ajhg.2020.10.014. https://www.ncbi.nlm.nih.gov/pubmed/33275911
Hall JG. The mystery of monozygotic twinning II: what can monozygotic twinning tell us about Amyoplasia from a review of the various mechanisms and types of monozygotic twinning? [Internet]. Am J Med Genet. 2021;185(6):1822-1835. https://doi.org/10.1002/ajmg.a.62177. https://www.ncbi.nlm.nih.gov/pubmed/33765349
Hall JG. The mystery of monozygotic twinning I: what can Amyoplasia tell us about monozygotic twinning and the possible role of twin-twin transfusion? Am J Med Genet. 2021;185(6):1816-1821. https://doi.org/10.1002/ajmg.a.62172
Nowlan NC, Department of Bioengineering, Imperial College London, London SW7 2AZ, UK. Biomechanics of foetal movement. Eur Cell Mater. 2015;29(0):1-21. https://doi.org/10.22203/ecm.v029a01
Kahn J, Shwartz Y, Blitz E, et al. Muscle contraction is necessary to maintain joint progenitor cell fate [Internet]. Dev Cell. 2009;16(5):734-743. https://doi.org/10.1016/j.devcel.2009.04.013
Hasty P, Bradley A, Morris JH, et al. Muscle deficiency and neonatal death in mice with a targeted mutation in the myogenin gene [Internet]. Nature. 1993;364(6437):501-506. https://doi.org/10.1038/364501a0. https://www.ncbi.nlm.nih.gov/pubmed/8393145
de Vries JI, Fong BF. Normal fetal motility: an overview [Internet]. Ultrasound Obstet Gynecol. 2006;27(6):701-711. https://doi.org/10.1002/uog.2740. https://www.ncbi.nlm.nih.gov/pubmed/16710877
de Vries JI, Fong BF. Changes in fetal motility as a result of congenital disorders: an overview [Internet]. Ultrasound Obstet Gynecol. 2007;29(5):590-599. https://doi.org/10.1002/uog.3917. https://www.ncbi.nlm.nih.gov/pubmed/17427894
Moessinger AC. Fetal akinesia deformation sequence: an animal model [Internet]. Pediatrics. 1983;72(6):857-863. https://doi.org/10.1542/peds.72.6.857. https://www.ncbi.nlm.nih.gov/pubmed/6685864
Hall JG. In utero movement and use of limbs are necessary for normal growth: a study of individuals with arthrogryposis [Internet]. Prog Clin Biol Res. 1985;200:155-162. https://www.ncbi.nlm.nih.gov/pubmed/4080736
Ruano-Gil D, Nardi-Vilardaga J, Teixidor-Johe A. Embryonic mobility and joint development [Internet]. Folia Morphol. 1980;28(3):221-223. https://www.ncbi.nlm.nih.gov/pubmed/7409676
Pooh RK, Kurjak A. 3D/4D sonography moved prenatal diagnosis of fetal anomalies from the second to the first trimester of pregnancy [Internet]. J Matern Fetal Neonatal Med. 2012;25(5):433-455. https://doi.org/10.3109/14767058.2011.636107. https://www.ncbi.nlm.nih.gov/pubmed/22082334
Katorza E, Achiron R. Early pregnancy scanning for fetal anomalies-the new standard? [Internet]. Clin Obs Gynecol. 2012;55(1):199-216. https://doi.org/10.1097/grf.0b013e3182446ae9. https://www.ncbi.nlm.nih.gov/pubmed/22343239
Manegold G, Tercanli S, Struben H, Huang D, Kang A. Is a routine ultrasound in the third trimester justified? Additional fetal anomalies diagnosed after two previous unremarkable ultrasound examinations [Internet]. Ultraschall Med. 2011;32(4):381-386. https://doi.org/10.1055/s-0029-1245799. https://www.ncbi.nlm.nih.gov/pubmed/21294069
Filges I, Hall JG. We are failing to identify disorders of fetal movement-why? [Internet]. Prenat Diagn. 2012;32(10):919-920. https://doi.org/10.1002/pd.3944. https://www.ncbi.nlm.nih.gov/pubmed/22847820
Tjon JK, Tan-Sindhunata MB, Bugiani M, et al. Care pathway for foetal joint contractures, foetal akinesia deformation sequence, and arthrogryposis multiplex congenita [Internet]. Fetal Diagn Ther. 2021;48(11-12):829-839. https://doi.org/10.1159/000520869. https://www.ncbi.nlm.nih.gov/pubmed/34775380
Tjon JK, Tan-Sindhunata GM, Bugiani M, et al. Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: is motor assessment of additional value for in utero diagnosis? A 10-year cohort study [Internet]. Prenat Diagn. 2019;39(3):219-231. https://doi.org/10.1002/pd.5411. https://www.ncbi.nlm.nih.gov/pubmed/30578734
Donker ME, Eijckelhof BH, Tan GM, de Vries JI. Serial postural and motor assessment of fetal akinesia deformation sequence (FADS) [Internet]. Early Hum Dev. 2009;85(12):785-790. https://doi.org/10.1016/j.earlhumdev.2009.10.008. https://www.ncbi.nlm.nih.gov/pubmed/19944545
Meier N, Bruder E, Lapaire O, et al. Exome sequencing of fetal anomaly syndromes: novel phenotype-genotype discoveries [Internet]. Eur J Hum Genet. 2019;27(5):730-737. https://doi.org/10.1038/s41431-018-0324-y. https://www.ncbi.nlm.nih.gov/pubmed/30679815
Mone F, Abu Subieh H, Doyle S, et al. Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study [Internet]. Ultrasound Obstet Gynecol. 2022;59(6):723-730. https://doi.org/10.1002/uog.24842. https://www.ncbi.nlm.nih.gov/pubmed/34940998
Reid CO, Hall JG, Anderson C, et al. Association of amyoplasia with gastroschisis, bowel atresia, and defects of the muscular layer of the trunk [Internet]. Am J Med Genet. 1986;24(4):701-710. https://doi.org/10.1002/ajmg.1320240415. https://www.ncbi.nlm.nih.gov/pubmed/2943157
Hall JG. Pena-Shokeir phenotype (fetal akinesia deformation sequence) revisited. Birth Defects Res A Clin Mol Teratol. 2009;85(8):677-694. https://doi.org/10.1002/bdra.20611
Hall JG. The lethal multiple pterygium syndromes. Am J Med Genet. 1984;17(4):803-807. https://doi.org/10.1002/ajmg.1320170410
Dieterich K, Kimber E, Hall JG. Central nervous system involvement in arthrogryposis multiplex congenita: overview of causes, diagnosis, and care [Internet]. Am J Med Genet C Semin Med Genet. 2019;181(3):345-353. https://doi.org/10.1002/ajmg.c.31732. https://www.ncbi.nlm.nih.gov/pubmed/31410997
Ravenscroft G, Thompson EM, Todd EJ, et al. Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations [Internet]. Neuromuscul Disord. 2013;23(2):165-169. https://doi.org/10.1016/j.nmd.2012.11.005. https://www.ncbi.nlm.nih.gov/pubmed/23218673
Laquerriere A, Jaber D, Abiusi E, et al. Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita. J Med Genet. 2022;59(6):559-567. https://doi.org/10.1136/jmedgenet-2020-107595
Reed SD, Hall JG, Riccardi VM, Aylsworth A, Timmons C. Chromosomal abnormalities associated with congenital contractures (arthrogryposis) [Internet]. Clin Genet. 1985;27(4):353-372. https://doi.org/10.1111/j.1399-0004.1985.tb02278.x. https://www.ncbi.nlm.nih.gov/pubmed/3995785
Beecroft SJ, Lombard M, Mowat D, et al. Genetics of neuromuscular fetal akinesia in the genomics era [Internet]. J Med Genet. 2018;55(8):505-514. https://doi.org/10.1136/jmedgenet-2018-105266. https://www.ncbi.nlm.nih.gov/pubmed/29959180
Meier N, Bruder E, Filges I. A novel homozygous splice-site mutation in RYR1 causes fetal hydrops and affects skeletal and smooth muscle development [Internet]. Prenat Diagn. 2017;37(7):720-724. https://doi.org/10.1002/pd.5073. https://www.ncbi.nlm.nih.gov/pubmed/28543167
Alkhunaizi E, Shuster S, Shannon P, et al. Homozygous/compound heterozygote RYR1 gene variants: expanding the clinical spectrum [Internet]. Am J Med Genet. 2019;179(3):386-396. https://doi.org/10.1002/ajmg.a.61025. https://www.ncbi.nlm.nih.gov/pubmed/30652412
Kiefer J, Hall JG. Gene ontology analysis of arthrogryposis (multiple congenital contractures) [Internet]. Am J Med Genet C Semin Med Genet. 2019;181(3):310-326. https://doi.org/10.1002/ajmg.c.31733. https://www.ncbi.nlm.nih.gov/pubmed/31369690
Oberg KC, Magaki S, Hall JG. A standardized autopsy protocol for arthrogryposis (multiple congenital contractures) [Internet]. Am J Med Genet C Semin Med Genet. 2019;181(3):474-478. https://doi.org/10.1002/ajmg.c.31731. https://www.ncbi.nlm.nih.gov/pubmed/31373772
Mellis R, Oprych K, Scotchman E, Hill M, Chitty LS. Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: a systematic review and meta-analysis. Prenat Diagn. 2022;42(6):662-685. https://doi.org/10.1002/pd.6115
Beecroft SJ, Lamont PJ, Edwards S, et al. The impact of next-generation sequencing on the diagnosis, treatment, and prevention of hereditary neuromuscular disorders [Internet]. Mol Diagn Ther. 2020;24(6):641-652. https://doi.org/10.1007/s40291-020-00495-2. https://www.ncbi.nlm.nih.gov/pubmed/32997275
Filges I, Friedman JM. Exome sequencing for gene discovery in lethal fetal disorders-harnessing the value of extreme phenotypes [Internet]. Prenat Diagn. 2015;35(10):1005-1009. https://doi.org/10.1002/pd.4464. https://www.ncbi.nlm.nih.gov/pubmed/25046514
Dahan-Oliel N, Cachecho S, Barnes D, et al. International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita [Internet]. Am J Med Genet C Semin Med Genet. 2019;181(3):288-299. https://doi.org/10.1002/ajmg.c.31721. https://www.ncbi.nlm.nih.gov/pubmed/31282072
Dahan-Oliel N, Hall JG. Collaborating to advance interdisciplinary care for individuals with arthrogryposis. Am J Med Genet C Semin Med Genet. 2019;181(3):273-276. https://doi.org/10.1002/ajmg.c.31741
Dieterich K, Le Tanno P, Kimber E, Jouk PS, Hall J, Giampietro P. The diagnostic workup in a patient with AMC: overview of the clinical evaluation and paraclinical analyses with review of the literature. Am J Med Genet Part C Semin Med Genet. 2019;181(3):337-344. https://doi.org/10.1002/ajmg.c.31730
Bamshad M, Van Heest AE, Pleasure D. Arthrogryposis: a review and update [Internet]. J Bone Jt Surg Am. 2009;91(Suppl 4):40-46. https://doi.org/10.2106/jbjs.i.00281. https://www.ncbi.nlm.nih.gov/pubmed/19571066
Bevan WP, Hall JG, Bamshad M, Staheli LT, Jaffe KM, Song K. Arthrogryposis multiplex congenita (amyoplasia): an orthopaedic perspective [Internet]. J Pediatr Orthop. 2007;27(5):594-600. https://doi.org/10.1097/bpo.0b013e318070cc76. https://www.ncbi.nlm.nih.gov/pubmed/17585274
van Bosse HJP. Challenging clubfeet: the arthrogrypotic clubfoot and the complex clubfoot [Internet]. J Child Orthop. 2019;13(3):271-281. https://doi.org/10.1302/1863-2548.13.190072. https://www.ncbi.nlm.nih.gov/pubmed/31312267
Dillon ER, Bjornson KF, Jaffe KM, Hall JG, Song K. Ambulatory activity in youth with arthrogryposis: a cohort study [Internet]. J Pediatr Orthop. 2009;29(2):214-217. https://doi.org/10.1097/bpo.0b013e3181990214. https://www.ncbi.nlm.nih.gov/pubmed/19352250
van Bosse HJP. Orthopaedic care of the child with arthrogryposis: a 2020 overview [Internet]. Curr Opin Pediatr. 2020;32(1):76-85. https://doi.org/10.1097/mop.0000000000000847. https://www.ncbi.nlm.nih.gov/pubmed/31743218
Dai S, Dieterich K, Jaeger M, Wuyam B, Jouk PS, Pérennou D. Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype. Neurology. 2018;90(18):e1596-e1604. https://doi.org/10.1212/wnl.0000000000005418