Ultraschall Med 2024; 45(03): 220-231
DOI: 10.1055/a-2285-8251
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
› Further Information
Also available at
Permissions and Reprints
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
Rüdigerstraße 14, 70469 Stuttgart, Germany
References
1
Swanson AB.
A classification for congenital limb malformations. J Hand Surg Am 1976; 1: 8-22
2
Swanson AB,
Swanson GD,
Tada K.
A classification for congenital limb malformation. J Hand Surg Am 1983; 8: 693-702
3
Oberg KC.
Classification of congenital upper limb anomalies: towards improved communication, diagnosis, and discovery. J Hand Surg Eur Vol 2019; 44: 4-14
4
Girsch W,
Grill F.
[Peromelia]. Handchir Mikrochir Plast Chir 2008; 40: 8-12
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
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
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
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
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
10
Abuhamad A,
Chaoui R.
First trimester ultrasound diagnosis of fetal abnormalities. 1st. Edition. Philadelphia: Wolters Kluwer Heath; 2018
11
Hoyme HE,
Jones KL,
Van Allen MI.
et al. Vascular pathogenesis of transverse limb reduction defects. J Pediatr 1982; 101: 839-843
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
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
14
Holmes LB,
Nasri HZ.
Terminal transverse limb defects with “nubbins”. Birth Defects Res 2021; 113: 1007-1014
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
16
Li J,
Li D.
Limb defects in a fetus with homozygous alpha-thalassemia. Hemoglobin 2008; 32: 509-512
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
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
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
20 AWMF L. S2e-Leitlinie Ersttrimester Diagnostik und Therapie @ 11-13+6 Schwangerschaftswochen. Accepted
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
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
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
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
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
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
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
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
29
Merz E.
[DEGUM-Standards in Prenatal Level II Ultrasound Diagnosis (18-22 weeks of Gestation)]. Ultraschall in Med 2001; 22: 199
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
31
Haeusler M.
Ultraschall in der Schwangerschaft – die Qualitätsfrage. Speculum 2006; 24: 1-11
32
Brezinka C,
Haeusler M,
Winkler N.
et al. Die übersehene Fehlbildung im Ultraschall. Speculum 2014; 32: 7-9
留言 (0)