Pre‐natal and post‐natal diagnosis of congenital upper limb differences: The first 3 years of the Australian Hand Difference Register

David O'Keefe; Joanne Kennedy; David McCombe; Chris Coombs; Lisa Hui; Daniel Wilks; Jane Halliday

doi:10.1111/jpc.15673

journal article Aug 03, 2021

Pre‐natal and post‐natal diagnosis of congenital upper limb differences: The first 3 years of the Australian Hand Difference Register

David O'Keefe

Joanne Kennedy David McCombe Chris Coombs Lisa Hui

Daniel Wilks

Jane Halliday

Journal of Paediatrics and Child Health Vol. 58 No. 1 pp. 122-128 · Wiley

View at Publisher Save 10.1111/jpc.15673

Abstract

AimsChildren with a congenital upper limb difference (CoULD) are a diverse group who often require multidisciplinary care and long‐term support for functional and social impacts. The Australian Hand Difference Register (AHDR) provides a national database of children born with a CoULD and aims to facilitate research and improve health care for affected children. Using data from the first 3 years of its operation, we analysed the demographic and clinical features of participating families, including type of CoULDs and the frequency of pre‐natal and syndromic diagnoses.MethodsFamilies were recruited from tertiary plastic surgery, orthopaedic and genetics clinics, as well as by self‐referral. Hand differences were classified by the consulting physician according to the Oberg–Manske–Tonkin classification system. Primary carers were invited to complete an online questionnaire covering demographic information, pregnancy and newborn outcomes and diagnostic details.ResultsBetween August 2017 and September 2020, 822 families consented and 320 questionnaires were reviewed. CoULDs were detected pre‐natally in 66 (20.6%) and post‐natally in 248 children (77.5%); data for 6 (1.9%) children were missing. The most common CoULDs were radial polydactyly, symbrachydactyly with ectodermal elements and radial longitudinal deficiency, hypoplastic thumb. Twenty‐seven children (8.4%) had an associated syndrome, 7 diagnosed pre‐natally and 19 post‐natally; the most common were VACTERL association, Poland anomaly, Holt–Oram and ectrodactyly–ectodermal dysplasia–clefting syndromes.ConclusionsThe AHDR is a valuable resource for understanding the relative frequencies of CoULDs. Participation will assist future research into the diagnostic journeys of children with CoULDs, including risk factors, diagnosis and psychosocial impacts.

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Citations

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Details

Published: Aug 03, 2021
Vol/Issue: 58(1)
Pages: 122-128
License: View

Authors

D

David O'Keefe

Mercy Hospital for Women Melbourne Victoria Australia

J

Joanne Kennedy

Murdoch Children's Research Institute Melbourne Victoria Australia; Department of Paediatrics The University of Melbourne Melbourne Victoria Australia

D

David McCombe

Murdoch Children's Research Institute Melbourne Victoria Australia; Department of Plastic & Maxillofacial Surgery The Royal Children's Hospital Melbourne Victoria Australia; Department of Paediatrics The University of Melbourne Melbourne Victoria Australia

C

Chris Coombs

Murdoch Children's Research Institute Melbourne Victoria Australia; Department of Plastic & Maxillofacial Surgery The Royal Children's Hospital Melbourne Victoria Australia; Department of Paediatrics The University of Melbourne Melbourne Victoria Australia

L

Lisa Hui

Mercy Hospital for Women Melbourne Victoria Australia; Murdoch Children's Research Institute Melbourne Victoria Australia; Department of Obstetrics & Gynaecology The University of Melbourne Melbourne Victoria Australia

D

Daniel Wilks

Murdoch Children's Research Institute Melbourne Victoria Australia; Department of Plastic & Maxillofacial Surgery The Royal Children's Hospital Melbourne Victoria Australia; Department of Paediatrics The University of Melbourne Melbourne Victoria Australia

J

Jane Halliday

Murdoch Children's Research Institute Melbourne Victoria Australia; Department of Paediatrics The University of Melbourne Melbourne Victoria Australia

Funding

Australasian Foundation for Plastic Surgery

Cite This Article

David O'Keefe, Joanne Kennedy, David McCombe, et al. (2021). Pre‐natal and post‐natal diagnosis of congenital upper limb differences: The first 3 years of the Australian Hand Difference Register. Journal of Paediatrics and Child Health, 58(1), 122-128. https://doi.org/10.1111/jpc.15673

Pre‐natal and post‐natal diagnosis of congenital upper limb differences: The first 3 years of the Australian Hand Difference Register

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