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Ultraschall Med 2024; 45(03): 220-231
DOI: 10.1055/a-2285-8251
Editorial

Transverse limb deficiency of the upper extremities

Prevalence, detection rates, quality specifications for sonographic screening examinations, and legal liability for failed detection of malformations Article in several languages: English | deutsch
Philipp Klaritsch
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In the final months of the year 2023, a ruling of the Austrian Supreme Court of Justice (OGH) caused concern and uncertainty among many colleagues specialized in prenatal ultrasound examinations. In short, an Austrian gynecologist was found liable for damages and is required to assume all child maintenance costs because he failed to detect the complete absence of the fetusʼs left arm (amelia) during multiple ultrasound examinations conducted in 2018 including first-trimester screening and second trimester anomaly scan (OGH 3 Ob 9/23 d dated 11/21/2023).

The circumstances of the failure to detect the malformation are not known to the author and will not be discussed further. However, the case is used as an example for investigating the following questions:

  • Classification, etiology, and prevalence of transverse limb deficiency of the upper extremities

  • Ability to visualize the extremities with ultrasound and detection rates of transverse limb deficiency of the upper extremities

  • Quality criteria for sonographic screening examinations affecting the extremities

  • Current legal approaches

  • Consequences for physicians performing prenatal ultrasound examinations



Publication History

Article published online:
04 June 2024

© 2024. Thieme. All rights reserved.

Georg Thieme Verlag KG
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  • References

  • 1 Swanson AB. A classification for congenital limb malformations. J Hand Surg Am 1976; 1: 8-22
    CrossrefPubMedGoogle Scholar
  • 2 Swanson AB, Swanson GD, Tada K. A classification for congenital limb malformation. J Hand Surg Am 1983; 8: 693-702
    CrossrefPubMedGoogle Scholar
  • 3 Oberg KC. Classification of congenital upper limb anomalies: towards improved communication, diagnosis, and discovery. J Hand Surg Eur Vol 2019; 44: 4-14
    CrossrefPubMedGoogle Scholar
  • 4 Girsch W, Grill F. [Peromelia]. Handchir Mikrochir Plast Chir 2008; 40: 8-12
    PubMedGoogle Scholar
  • 5 Pakkasjarvi N, Syvanen J, Wiro M. et al. Amelia and phocomelia in Finland: Characteristics and prevalences in a nationwide population-based study. Birth Defects Res 2022; 114: 1427-1433
    CrossrefPubMedGoogle Scholar
  • 6 Bermejo-Sanchez E, Cuevas L, Amar E. et al. Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. Am J Med Genet C Semin Med Genet 2011; 157C: 288-304
    CrossrefPubMedGoogle Scholar
  • 7 Oberg KC, Feenstra JM, Manske PR. et al. Developmental biology and classification of congenital anomalies of the hand and upper extremity. J Hand Surg Am 2010; 35: 2066-2076
    CrossrefPubMedGoogle Scholar
  • 8 Vij N, Goncalves LF, Llanes A. et al. Prenatal radiographic evaluation of congenital transverse limb deficiencies: A scoping review. World J Orthop 2023; 14: 155-165
    CrossrefPubMedGoogle Scholar
  • 9 Baas M, Stubbs AP, van Zessen DB. et al. Identification of Associated Genes and Diseases in Patients With Congenital Upper-Limb Anomalies: A Novel Application of the OMT Classification. J Hand Surg Am 2017; 42: 533-545.e534
    CrossrefPubMedGoogle Scholar
  • 10 Abuhamad A, Chaoui R. First trimester ultrasound diagnosis of fetal abnormalities. 1st. Edition. Philadelphia: Wolters Kluwer Heath; 2018
    Google Scholar
  • 11 Hoyme HE, Jones KL, Van Allen MI. et al. Vascular pathogenesis of transverse limb reduction defects. J Pediatr 1982; 101: 839-843
    CrossrefPubMedGoogle Scholar
  • 12 Snape KM, Ruddy D, Zenker M. et al. The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects. Am J Med Genet A 2009; 149A: 1860-1881
    CrossrefPubMedGoogle Scholar
  • 13 Adrien N, Petersen JM, Parker SE. et al. Vasoactive exposures and risk of amniotic band syndrome and terminal transverse limb deficiencies. Birth Defects Res 2020; 112: 1074-1084
    CrossrefPubMedGoogle Scholar
  • 14 Holmes LB, Nasri HZ. Terminal transverse limb defects with “nubbins”. Birth Defects Res 2021; 113: 1007-1014
    CrossrefPubMedGoogle Scholar
  • 15 Ordal L, Keunen J, Martin N. et al. Congenital limb deficiencies with vascular etiology: Possible association with maternal thrombophilia. Am J Med Genet A 2016; 170: 3083-3089
    CrossrefPubMedGoogle Scholar
  • 16 Li J, Li D. Limb defects in a fetus with homozygous alpha-thalassemia. Hemoglobin 2008; 32: 509-512
    CrossrefPubMedGoogle Scholar
  • 17 van den Anker JN, Cohen-Overbeek TE, Wladimiroff JW. et al. Prenatal diagnosis of limb-reduction defects due to maternal cocaine use. Lancet 1991; 338: 1332
    CrossrefPubMedGoogle Scholar
  • 18 Barros M, Gorgal G, Machado AP. et al. Revisiting amniotic band sequence: a wide spectrum of manifestations. Fetal Diagn Ther 2014; 35: 51-56
    CrossrefPubMedGoogle Scholar
  • 19 von Kaisenberg C, Chaoui R, Hausler M. et al. Quality Requirements for the early Fetal Ultrasound Assessment at 11-13+6 Weeks of Gestation (DEGUM Levels II and III). Ultraschall in Med 2016; 37: 297-302
    Article in Thieme ConnectPubMedGoogle Scholar
  • 20 AWMF L. S2e-Leitlinie Ersttrimester Diagnostik und Therapie @ 11-13+6 Schwangerschaftswochen. Accepted
    PubMedGoogle Scholar
  • 21 Dicke JM, Piper SL, Goldfarb CA. The utility of ultrasound for the detection of fetal limb abnormalities--a 20-year single-center experience. Prenat Diagn 2015; 35: 348-353
    CrossrefPubMedGoogle Scholar
  • 22 Syngelaki A, Hammami A, Bower S. et al. Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11–13 weeksʼ gestation. Ultrasound Obstet Gynecol 2019; 54: 468-476
    CrossrefPubMedGoogle Scholar
  • 23 Ficara A, Syngelaki A, Hammami A. et al. Value of routine ultrasound examination at 35-37 weeks' gestation in diagnosis of fetal abnormalities. Ultrasound Obstet Gynecol 2020; 55: 75-80
    CrossrefPubMedGoogle Scholar
  • 24 Liao YM, Li SL, Luo GY. et al. Routine screening for fetal limb abnormalities in the first trimester. Prenat Diagn 2016; 36: 117-126
    CrossrefPubMedGoogle Scholar
  • 25 Salomon LJ, Alfirevic Z, Berghella V. et al. Practice guidelines for performance of the routine mid-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol 2011; 37: 116-126
    CrossrefPubMedGoogle Scholar
  • 26 Salomon LJ, Alfirevic Z, Berghella V. et al. ISUOG Practice Guidelines (updated): performance of the routine mid-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol 2022; 59: 840-856
    CrossrefPubMedGoogle Scholar
  • 27 Salomon LJ, Alfirevic Z, Bilardo CM. et al. ISUOG practice guidelines: performance of first-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol 2013; 41: 102-113
    CrossrefPubMedGoogle Scholar
  • 28 Merz E, Eichhorn KH, von Kaisenberg C. et al. [Updated quality requirements regarding secondary differentiated ultrasound examination in prenatal diagnostics (= DEGUM level II) in the period from 18 + 0 to 21 + 6 weeks of gestation]. Ultraschall in Med 2012; 33: 593-596
    Article in Thieme ConnectPubMedGoogle Scholar
  • 29 Merz E. [DEGUM-Standards in Prenatal Level II Ultrasound Diagnosis (18-22 weeks of Gestation)]. Ultraschall in Med 2001; 22: 199
    PubMedGoogle Scholar
  • 30 Arzt W, Krampl-Bettelheim E, Steiner H. Leitlinien der ÖGGG, der ÖGUM und der ÖGPPM für die Durchführung von Ultraschalluntersuchungen in der Schwangerschaft. Speculum 2009; 27: 1-4
    PubMedGoogle Scholar
  • 31 Haeusler M. Ultraschall in der Schwangerschaft – die Qualitätsfrage. Speculum 2006; 24: 1-11
    PubMedGoogle Scholar
  • 32 Brezinka C, Haeusler M, Winkler N. et al. Die übersehene Fehlbildung im Ultraschall. Speculum 2014; 32: 7-9
    PubMedGoogle Scholar