U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Fetal akinesia

MedGen UID:
1781859
•Concept ID:
C5442080
•
Finding

Professional guidelines

PubMed

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
Ravenscroft G, Clayton JS, Faiz F, Sivadorai P, Milnes D, Cincotta R, Moon P, Kamien B, Edwards M, Delatycki M, Lamont PJ, Chan SH, Colley A, Ma A, Collins F, Hennington L, Zhao T, McGillivray G, Ghedia S, Chao K, O'Donnell-Luria A, Laing NG, Davis MR
J Med Genet 2021 Sep;58(9):609-618. Epub 2020 Oct 15 doi: 10.1136/jmedgenet-2020-106901. PMID: 33060286Free PMC Article
Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome.
Reischer T, Liebmann-Reindl S, Bettelheim D, Balendran-Braun S, Streubel B
Prenat Diagn 2020 Dec;40(12):1532-1539. Epub 2020 Sep 10 doi: 10.1002/pd.5809. PMID: 32779773Free PMC Article
Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management.
Niles KM, Blaser S, Shannon P, Chitayat D
Prenat Diagn 2019 Aug;39(9):720-731. Epub 2019 Jul 16 doi: 10.1002/pd.5505. PMID: 31218730

Recent clinical studies

Etiology

Pediatric neuromuscular channelopathies.
Vivekanandam V, Munot P, Jayaseelan DL
Handb Clin Neurol 2024;203:111-122. doi: 10.1016/B978-0-323-90820-7.00011-2. PMID: 39174243
Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome.
Reischer T, Liebmann-Reindl S, Bettelheim D, Balendran-Braun S, Streubel B
Prenat Diagn 2020 Dec;40(12):1532-1539. Epub 2020 Sep 10 doi: 10.1002/pd.5809. PMID: 32779773Free PMC Article
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation.
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Genetics of neuromuscular fetal akinesia in the genomics era.
Beecroft SJ, Lombard M, Mowat D, McLean C, Cairns A, Davis M, Laing NG, Ravenscroft G
J Med Genet 2018 Aug;55(8):505-514. Epub 2018 Jun 29 doi: 10.1136/jmedgenet-2018-105266. PMID: 29959180
Fetal akinesia.
Hammond E, Donnenfeld AE
Obstet Gynecol Surv 1995 Mar;50(3):240-9. doi: 10.1097/00006254-199503000-00028. PMID: 7739837

Diagnosis

Congenital myasthenic syndromes.
Beeson D
Handb Clin Neurol 2024;203:69-88. doi: 10.1016/B978-0-323-90820-7.00013-6. PMID: 39174255
Pediatric neuromuscular channelopathies.
Vivekanandam V, Munot P, Jayaseelan DL
Handb Clin Neurol 2024;203:111-122. doi: 10.1016/B978-0-323-90820-7.00011-2. PMID: 39174243
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
Ravenscroft G, Clayton JS, Faiz F, Sivadorai P, Milnes D, Cincotta R, Moon P, Kamien B, Edwards M, Delatycki M, Lamont PJ, Chan SH, Colley A, Ma A, Collins F, Hennington L, Zhao T, McGillivray G, Ghedia S, Chao K, O'Donnell-Luria A, Laing NG, Davis MR
J Med Genet 2021 Sep;58(9):609-618. Epub 2020 Oct 15 doi: 10.1136/jmedgenet-2020-106901. PMID: 33060286Free PMC Article
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation.
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Fetal akinesia.
Hammond E, Donnenfeld AE
Obstet Gynecol Surv 1995 Mar;50(3):240-9. doi: 10.1097/00006254-199503000-00028. PMID: 7739837

Therapy

KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.
Natera-de Benito D, Nascimento A, Abicht A, Ortez C, Jou C, Müller JS, Evangelista T, Töpf A, Thompson R, Jimenez-Mallebrera C, Colomer J, Lochmüller H
J Neurol 2016 Mar;263(3):517-23. Epub 2016 Jan 11 doi: 10.1007/s00415-015-8015-x. PMID: 26754003
Anesthetic considerations in Sheldon-Hall syndrome.
Anderson TA, Kasser JR, Holzman RS
Paediatr Anaesth 2014 May;24(5):538-40. doi: 10.1111/pan.12303. PMID: 24829975
Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks of gestation.
Souka AP, Snijders RJ, Novakov A, Soares W, Nicolaides KH
Ultrasound Obstet Gynecol 1998 Jun;11(6):391-400. doi: 10.1046/j.1469-0705.1998.11060391.x. PMID: 9674084
Haloperidol overdose during pregnancy.
Hansen LM, Megerian G, Donnenfeld AE
Obstet Gynecol 1997 Oct;90(4 Pt 2):659-61. doi: 10.1016/s0029-7844(97)00395-5. PMID: 11770584
The heterogeneity of the Pena-Shokeir syndrome.
Hageman G, Willemse J, van Ketel BA, Barth PG, Lindhout D
Neuropediatrics 1987 Feb;18(1):45-50. doi: 10.1055/s-2008-1052435. PMID: 3561707

Prognosis

Fetal akinesia: The application of clinical exome sequencing in cases with decreased fetal movement.
Cao Q, Yang Y, Pan M, Han J, Yang X, Li DZ
Eur J Obstet Gynecol Reprod Biol 2021 May;260:59-63. Epub 2021 Mar 13 doi: 10.1016/j.ejogrb.2021.03.019. PMID: 33743358
Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome.
Reischer T, Liebmann-Reindl S, Bettelheim D, Balendran-Braun S, Streubel B
Prenat Diagn 2020 Dec;40(12):1532-1539. Epub 2020 Sep 10 doi: 10.1002/pd.5809. PMID: 32779773Free PMC Article
Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management.
Niles KM, Blaser S, Shannon P, Chitayat D
Prenat Diagn 2019 Aug;39(9):720-731. Epub 2019 Jul 16 doi: 10.1002/pd.5505. PMID: 31218730
Genetics of neuromuscular fetal akinesia in the genomics era.
Beecroft SJ, Lombard M, Mowat D, McLean C, Cairns A, Davis M, Laing NG, Ravenscroft G
J Med Genet 2018 Aug;55(8):505-514. Epub 2018 Jun 29 doi: 10.1136/jmedgenet-2018-105266. PMID: 29959180
Fetal akinesia.
Hammond E, Donnenfeld AE
Obstet Gynecol Surv 1995 Mar;50(3):240-9. doi: 10.1097/00006254-199503000-00028. PMID: 7739837

Clinical prediction guides

Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.
Turgut GT, Altunoglu U, Gulec C, Sarac Sivrikoz T, Kalaycı T, Toksoy G, Avcı Ş, Yıldırım BT, Sayın GY, Kalelioglu IH, Karaman B, Has R, Başaran S, Yuksel A, Kayserili H, Uyguner ZO
Clin Genet 2024 Jun;105(6):596-610. Epub 2024 Jan 26 doi: 10.1111/cge.14490. PMID: 38278647
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
Ravenscroft G, Clayton JS, Faiz F, Sivadorai P, Milnes D, Cincotta R, Moon P, Kamien B, Edwards M, Delatycki M, Lamont PJ, Chan SH, Colley A, Ma A, Collins F, Hennington L, Zhao T, McGillivray G, Ghedia S, Chao K, O'Donnell-Luria A, Laing NG, Davis MR
J Med Genet 2021 Sep;58(9):609-618. Epub 2020 Oct 15 doi: 10.1136/jmedgenet-2020-106901. PMID: 33060286Free PMC Article
Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?
Unger S, Lausch E, Stanzial F, Gillessen-Kaesbach G, Stefanova I, Di Stefano CM, Bertini E, Dionisi-Vici C, Nilius B, Zabel B, Superti-Furga A
Am J Med Genet A 2011 Nov;155A(11):2860-4. Epub 2011 Sep 30 doi: 10.1002/ajmg.a.34268. PMID: 21964829
Haloperidol overdose during pregnancy.
Hansen LM, Megerian G, Donnenfeld AE
Obstet Gynecol 1997 Oct;90(4 Pt 2):659-61. doi: 10.1016/s0029-7844(97)00395-5. PMID: 11770584
Extrinsic fetal akinesia and skeletal development: a study in oligohydramnios sequence.
Palacios J, Rodriguez JI
Teratology 1990 Jul;42(1):1-5. doi: 10.1002/tera.1420420102. PMID: 2392775

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...