OpenLB
Open Library of Bioscience
Advanced Search
American journal of medical genetics. Part A
04, 2023;191 (4): 995-1006.

Amniotic band syndrome and limb body wall complex in Europe 1980-2019.

Jorieke E H Bergman, Ingeborg Barišić, Marie-Claude Addor, Paula Braz, Clara Cavero-Carbonell, Elizabeth S Draper, Luis J Echevarría-González-de-Garibay, Miriam Gatt, Martin Haeusler, Babak Khoshnood, Kari Klungsøyr, Jennifer J Kurinczuk, Anna Latos-Bielenska, Karen Luyt, Danielle Martin, Carmel Mullaney, Vera Nelen, Amanda J Neville, Mary T O'Mahony, Isabelle Perthus, Anna Pierini, Hanitra Randrianaivo, Judith Rankin, Anke Rissmann, Florence Rouget, Gerardine Sayers, Bruno Schaub, Sarah Stevens, David Tucker, Christine Verellen-Dumoulin, Awi Wiesel, Erica H Gerkes, Annie Perraud, Maria A Loane, Diana Wellesley, Hermien E K de Walle
Author Information
  1. Jorieke E H Bergman: Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. ORCID
  2. Ingeborg Barišić: Children's Hospital Zagreb, Centre of Excellence for Reproductive and Regenerative Medicine, Medical School University of Zagreb, Zagreb, Croatia. ORCID
  3. Marie-Claude Addor: Department of Woman-Mother-Child, University Medical Center CHUV, Lausanne, Switzerland.
  4. Paula Braz: RENAC-Registo Nacional de Anomalias Congénitas, Epidemiology Department, National Institute of Health Doutor Ricardo Jorge, Lisbon, Portugal.
  5. Clara Cavero-Carbonell: Rare Diseases Research Unit, Foundation for the Promotion of the Research in Healthcare and Biomedicine, Valencia, Spain.
  6. Elizabeth S Draper: Department of Health Sciences, University of Leicester, Leicester, UK.
  7. Luis J Echevarría-González-de-Garibay: Directorate for Healthcare Planning, Organisation and Evaluation, Ministry of Health of the Basque Government, Vitoria Gasteiz, Spain.
  8. Miriam Gatt: Malta Congenital Anomalies Registry, Directorate for Health Information and Research, G'mangia, Malta.
  9. Martin Haeusler: Department of Obstetrics and Gynaecology, Medical University of Graz, Graz, Austria.
  10. Babak Khoshnood: Université de Paris Cité, Obstetrical Perinatal and Paediatric Epidemiology Research Team (EPOPé), CRESS, INSERM, INRA, Paris, France.
  11. Kari Klungsøyr: Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.
  12. Jennifer J Kurinczuk: National Perinatal Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
  13. Anna Latos-Bielenska: Polish Registry of Congenital Malformations, Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
  14. Karen Luyt: South West Congenital Anomaly Register (SWCAR), Bristol Medical School, University of Bristol, Bristol, UK.
  15. Danielle Martin: NCARDRS, NHS Digital, Leeds, UK.
  16. Carmel Mullaney: Department of Public Health, HSE South East Area, Dublin, Ireland.
  17. Vera Nelen: Provincial Institute of Hygiene, Antwerp, Belgium.
  18. Amanda J Neville: IMER Registry, Centre for Clinical and Epidemiological Research, University of Ferrara and Azienda Ospedaliero Universitario di Ferrara, Ferrara, Italy.
  19. Mary T O'Mahony: Department of Public Health HSE-South, St Finbarr's Hospital, Cork, Ireland.
  20. Isabelle Perthus: Auvergne Registry of Congenital Anomalies (CEMC-Auvergne), Department of Clinical Genetics, Centre de Référence des Maladies Rares, University Hospital of Clermont-Ferrand, Clermont-Ferrand, France.
  21. Anna Pierini: Unit of Epidemiology of Rare Diseases and Congenital Anomalies, Institute of Clinical Physiology, National Research Council, Pisa, Italy.
  22. Hanitra Randrianaivo: Unit of Genetic Medical and Register of Congenital Malformations, CHU St Pierre La Reunion, Réunion, France.
  23. Judith Rankin: South West Congenital Anomaly Register (SWCAR), Bristol Medical School, University of Bristol, Bristol, UK.
  24. Anke Rissmann: Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University Magdeburg, Magdeburg, Germany. ORCID
  25. Florence Rouget: Brittany Registry of Congenital Anomalies, CHU Rennes, Univ Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail), UMR_S 1085, Rennes, France.
  26. Gerardine Sayers: National Health Intelligence Unit, R&D Health Service Executive, Dublin, Ireland.
  27. Bruno Schaub: French West Indies Registry, Registre des Malformations des Antilles (REMALAN), Maison de la Femme de la Mère et de l'Enfant, University Hospital of Martinique, Fort-de-France, France.
  28. Sarah Stevens: NCARDRS, NHS Digital, Leeds, UK.
  29. David Tucker: Congenital Anomaly Register & Information Service for Wales (CARIS), Public Health Wales, Swansea, UK.
  30. Christine Verellen-Dumoulin: Eurocat Hainaut-Namur, Institut de Pathologie et de Génétique, Charleroi, Belgium.
  31. Awi Wiesel: Births Registry Mainz Model, University of Mainz Medical Center, Mainz, Germany.
  32. Erica H Gerkes: Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  33. Annie Perraud: European Commission, Joint Research Centre (JRC), Ispra, Italy.
  34. Maria A Loane: Faculty of Life & Health Sciences, Ulster University, Northern Ireland, UK. ORCID
  35. Diana Wellesley: Faculty of Medicine and Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton, Southampton, UK.
  36. Hermien E K de Walle: Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. ORCID
PMID: 36584346 DOI: 10.1002/ajmg.a.63107

Abstract

Amniotic band syndrome (ABS) and limb body wall complex (LBWC) have an overlapping phenotype of multiple congenital anomalies and their etiology is unknown. We aimed to determine the prevalence of ABS and LBWC in Europe from 1980 to 2019 and to describe the spectrum of congenital anomalies. In addition, we investigated maternal age and multiple birth as possible risk factors for the occurrence of ABS and LBWC. We used data from the European surveillance of congenital anomalies (EUROCAT) network including data from 30 registries over 1980-2019. We included all pregnancy outcomes, including live births, stillbirths, and terminations of pregnancy for fetal anomalies. ABS and LBWC cases were extracted from the central EUROCAT database using coding information responses from the registries. In total, 866 ABS cases and 451 LBWC cases were included in this study. The mean prevalence was 0.53/10,000 births for ABS and 0.34/10,000 births for LBWC during the 40 years. Prevalence of both ABS and LBWC was lower in the 1980s and higher in the United Kingdom. Limb anomalies and neural tube defects were commonly seen in ABS, whereas in LBWC abdominal and thoracic wall defects and limb anomalies were most prevalent. Twinning was confirmed as a risk factor for both ABS and LBWC. This study includes the largest cohort of ABS and LBWC cases ever reported over a large time period using standardized EUROCAT data. Prevalence, clinical characteristics, and the phenotypic spectrum are described, and twinning is confirmed as a risk factor.

Keywords

ADAM sequence Streeter anomaly birth defects body stalk anomaly constriction bands

References

  1. Adam, A. P., Curry, C. J., Hall, J. G., Keppler-Noreuil, K. M., Adam, M. P., & Dobyns, W. B. (2020). Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis. American Journal of Medical Genetics Part A, 182, 2646-2661.
  2. Adrien, N., Petersen, J. M., Parker, S. E., & Werler, M. M. (2020). Vasoactive exposures and risk of amniotic band syndrome and terminal transverse limb deficiencies. Birth Defects Research, 112, 1074-1084.
  3. Bamforth, J. S. (1992). Amniotic band sequence: Streeter's hypothesis reexamined. American Journal of Medical Genetics, 44, 280-287.
  4. Bower, C., Norwood, F., Knowles, S., Chambers, H., Haan, E., & Chan, A. (1993). Amniotic band syndrome: A population-based study in two Australian states. Paediatric and Perinatal Epidemiology, 7, 395-403.
  5. Bugge, M. (2012). Body stalk anomaly in Denmark during 20 years (1970-1989). American Journal of Medical Genetics Part A, 158A, 1702-1708.
  6. Chen, H. (2012). Amniotic deformity, adhesions, mutilations (ADAM) complex. In N. J. Totowa (Ed.), Atlas of genetic diagnosis and counseling (pp. 87-98). Springer.
  7. Donnai, D., & Winter, R. M. (1989). Disorganisation: A model for ‘early amnion rupture’? Journal of Medical Genetics, 26, 421-425.
  8. EUROCAT Central Registry, University of Ulster. (2013). EUROCAT Guide 1.4: Instruction for the registration of congenital anomalies. EUROCAT, 1-167. https://eu-rd-platform.jrc.ec.europa.eu/system/files/public/JRC-EUROCAT-Full%20Guide%201%204%20version%2022-Nov-2021.pdf
  9. Evans, J. A., Vitez, M., & Czeizel, A. (1994). Congenital abnormalities associated with limb deficiency defects: A population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984). American Journal of Medical Genetics, 49, 52-66.
  10. Froster, U. G., & Baird, P. A. (1993). Amniotic band sequence and limb defects: Data from a population-based study. American Journal of Medical Genetics, 46, 497-500.
  11. Gajzer, D. C., Hirzel, A. C., Saigal, G., Rojas, C. P., & Rodriguez, M. M. (2015). Possible genetic origin of limb-body wall complex. Fetal and Pediatric Pathology, 34, 257-270.
  12. Gazolla, A. C., da Cunha, A. C., Telles, J. A., Betat Rda, S., Romano, M. A., Marshall, I., Gobatto, A. M., Bicca, A. M. d. H., Arcolini, C. P., Dal Pai, T. K. V., Vieira, L. R., Targa, L. V., Betineli, I., Zen, P. R. G., & Rosa, R. F. M. (2014). Limb-body wall defect: Experience of a reference service of fetal medicine from Southern Brazil. Birth Defects Research Part A, Clinical and Molecular Teratology, 100, 739-749.
  13. Guzman-Huerta, M. E., Muro-Barragan, S. A., Acevedo-Gallegos, S., Velazquez-Torres, B., Gallardo-Gaona, J. M., Ramirez-Calvo, J. A., Camargo-Marín, L., Benavides-Serralde, J. A., & Aguinaga-Ríos, M. (2013). Amniotic band sequence: Prenatal diagnosis, phenotype descriptions, and a proposal of a new classification based on morphologic findings. Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion, 65, 300-306.
  14. Hartwig, N. G., Vermeij-Keers, C., De Vries, H. E., Kagie, M., & Kragt, H. (1989). Limb body wall malformation complex: An embryologic etiology? Human Pathology, 20, 1071-1077.
  15. Hunter, A. G., Seaver, L. H., & Stevenson, R. E. (2011). Limb-body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies? American Journal of Medical Genetics Part A, 155A, 2045-2059.
  16. Iqbal, C. W., Derderian, S. C., Cheng, Y., Lee, H., & Hirose, S. (2015). Amniotic band syndrome: A single-institutional experience. Fetal Diagnosis and Therapy, 37, 1-5.
  17. Kalousek, D. K., & Bamforth, S. (1988). Amnion rupture sequence in previable fetuses. American Journal of Medical Genetics, 31, 63-73.
  18. Kinsner-Ovaskainen, A., Lanzoni, M., Garne, E., Loane, M., Morris, J., Neville, A., Nicholl, C., Rankin, J., Rissmann, A., Tucker, D., & Martin, S. (2018). A sustainable solution for the activities of the European network for surveillance of congenital anomalies: EUROCAT as part of the EU Platform on Rare Diseases Registration. European Journal of Medical Genetics, 61, 513-517.
  19. Koskimies, E., Syvanen, J., Nietosvaara, Y., Makitie, O., & Pakkasjarvi, N. (2015). Congenital constriction band syndrome with limb defects. Journal of Pediatric Orthopedics, 35, 100-103.
  20. Kruszka, P., Uwineza, A., Mutesa, L., Martinez, A. F., Abe, Y., Zackai, E. H., Ganetzky, R., Chung, B., Stevenson, R. E., Adelstein, R. S., Ma, X., Mullikin, J. C., the NISC Comparative Sequencing Program, Hong, S. K., & Muenke, M. (2015). Limb body wall complex, amniotic band sequence, or new syndrome caused by mutation in IQ Motif containing K (IQCK)? Molecular Genetics & Genomic Medicine, 3, 424-432.
  21. Lowry, R. B., Bedard, T., & Sibbald, B. (2017). The prevalence of amnion rupture sequence, limb body wall defects and body wall defects in Alberta 1980-2012 with a review of risk factors and familial cases. American Journal of Medical Genetics Part A, 173, 299-308.
  22. Luehr, B., Lipsett, J., & Quinlivan, J. A. (2002). Limb-body wall complex: A case series. The Journal of Maternal-Fetal & Neonatal Medicine, 12, 132-137.
  23. Mark, P. R. (2022). NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy. American Journal of Medical Genetics Part A, 188, 2834-2949.
  24. Martinez-Frias, M. L. (1997). Epidemiological characteristics of amniotic band sequence (ABS) and body wall complex (BWC): Are they two different entities? American Journal of Medical Genetics, 73, 176-179.
  25. Martinez-Frias, M. L., Bermejo, E., & Rodriguez-Pinilla, E. (2000). Body stalk defects, body wall defects, amniotic bands with and without body wall defects, and gastroschisis: Comparative epidemiology. American Journal of Medical Genetics, 92, 13-18.
  26. Mastroiacovo, P., Kallen, B., Knudsen, L. B., Lancaster, P. A., Castilla, E. E., Mutchinick, O., & Robert, E. (1992). Absence of limbs and gross body wall defects: An epidemiological study of related rare malformation conditions. Teratology, 46, 455-464.
  27. Moerman, P., Fryns, J. P., Vandenberghe, K., & Lauweryns, J. M. (1992). Constrictive amniotic bands, amniotic adhesions, and limb-body wall complex: Discrete disruption sequences with pathogenetic overlap. American Journal of Medical Genetics, 42, 470-479.
  28. Monden, C., Pison, G., & Smits, J. (2021). Twin Peaks: More twinning in humans than ever before. Human Reproduction, 36, 1666-1673.
  29. Morris, J. K., Wellesley, D., Limb, E., Bergman, J. E. H., Kinsner-Ovaskainen, A., Addor, M. C., Broughan, J. M., Cavero-Carbonell, C., Dias, C. M., Echevarría-González-de-Garibay, L. J., Gatt, M., Haeusler, M., Barisic, I., Klungsoyr, K., Lelong, N., Materna-Kiryluk, A., Neville, A., Nelen, V., O'Mahony, M. T., … Garne, E. (2022). Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries. Birth Defects Research, 114, 1417-1426.
  30. Nagase, H., Ohyama, M., Yamamoto, M., Akamatsu, C., Miyake, Y., Nagashima, A., Sasaki, M., & Ishikawa, H. (2021). Prenatal ultrasonographic findings and fetal/neonatal outcomes of body stalk anomaly. Congenital Anomalies, 61, 118-126.
  31. Orioli, I. M., Ribeiro, M. G., & Castilla, E. E. (2003). Clinical and epidemiological studies of amniotic deformity, adhesion, and mutilation (ADAM) sequence in a South American (ECLAMC) population. American Journal of Medical Genetics Part A, 118A, 135-145.
  32. Rittler, M., Campaña, H., Poletta, F. A., Santos, M. R., Gili, J. A., Pawluk, M. S., Cosentino, V. R., Gimenez, L., & Lopez-Camelo, J. S. (2019). Limb body wall complex: Its delineation and relationship with amniotic bands using clustering methods. Birth Defects Research, 111, 222-228.
  33. Singh, A., Singh, J., & Gupta, K. (2017). Body stalk anomaly: Antenatal sonographic diagnosis of this rare entity with review of literature. Journal of Ultrasonography, 17, 133-135.
  34. Smrcek, J. M., Germer, U., Krokowski, M., Berg, C., Krapp, M., Geipel, A., & Gembruch, U. (2003). Prenatal ultrasound diagnosis and management of body stalk anomaly: Analysis of nine singleton and two multiple pregnancies. Ultrasound in Obstetrics & Gynecology, 21, 322-328.
  35. Stevenson, R. E. (2021). Common pathogenesis for sirenomelia, OEIS complex, limb-body wall defect, and other malformations of caudal structures. American Journal of Medical Genetics Part A, 185, 1379-1387.
  36. Streeter, G. L. (1930). Focal deficiencies in fetal tissues and their relation to intrauterine amputations. Contributions to Embryology (Carnegie Institution of Washington), 22, 1-44.
  37. Syvänen, J., Raitio, A., Nietosvaara, Y., Heiskanen, S., Lahesmaa-Korpinen, A. M., Löyttyniemi, E., Gissler, M., & Helenius, I. (2021). Risk factors and prevalence of limb deficiencies associated with amniotic band sequence: A population-based case-control study. Journal of Pediatric Orthopedics, 41, e94-e97.
  38. Tinker, S. C., Gilboa, S. M., Moore, C. A., Waller, D. K., Simeone, R. M., Kim, S. Y., Jamieson, D. J., Botto, L. D., Reefhuis, J., & National Birth Defects Prevention Study. (2020). Specific birth defects in pregnancies of women with diabetes: National Birth Defects Prevention Study, 1997-2011. American Journal of Obstetrics and Gynecology, 222, 176.e1-176.e11.
  39. Torpin, R. (1965). Amniochorionic mesoblastic fibrous strings and amnionic bands: Associated constricting fetal malformations or fetal death. American Journal of Obstetrics and Gynecology, 91, 65-75.
  40. Tucker, F. D., Morris, J. K., JRC Management Committee, Neville, A., Garne, E., Kinsner-Ovaskainen, A., Lanzoni, M., Loane, M. A., Martin, S., Nicholl, C., Rankin, J., & Rissmann, A. K. (2018). EUROCAT: An update on its functions and activities. Journal of Community Genetics, 9, 407-410.
  41. Van Allen, M. I., Curry, C., & Gallagher, L. (1987). Limb body wall complex: I. Pathogenesis. American Journal of Medical Genetics, 28, 529-548.
  42. Werler, M. M., Bosco, J. L., Shapira, S. K., & National Birth Defects Prevention Study. (2009). Maternal vasoactive exposures, amniotic bands, and terminal transverse limb defects. Birth Defects Research Part A, Clinical and Molecular Teratology, 85, 52-57.

Grants

  1. MR/K02325X/1/Medical Research Council

MeSH Term

Pregnancy
Humans
Female
Infant, Newborn
Amniotic Band Syndrome
Abnormalities, Multiple
Europe
Maternal Age
Stillbirth
Registries
Prevalence
Journal Article Research Support, Non-U.S. Gov't
Article has an altmetric score of 1

Word Cloud

Created with Highcharts 10.0.0ABSLBWCanomaliescaseslimbbodywallcongenitalriskdataEUROCATbirthsdefectsAmnioticbandsyndromecomplexmultipleprevalenceEuropespectrumbirthincludingregistries1980-2019includedpregnancyusingstudy0000Prevalenceconfirmedfactoranomalyoverlappingphenotypeetiologyunknownaimeddetermine19802019describeadditioninvestigatedmaternalagepossiblefactorsoccurrenceusedEuropeansurveillancenetwork30outcomeslivestillbirthsterminationsfetalextractedcentraldatabasecodinginformationresponsestotal866451mean53/1034/1040 yearslower1980shigherUnitedKingdomLimbneuraltubecommonlyseenwhereasabdominalthoracicprevalentTwinningincludeslargestcohorteverreportedlargetimeperiodstandardizedclinicalcharacteristicsphenotypicdescribedtwinningADAMsequenceStreeterstalkconstrictionbands

Similar Articles

Cited By