Abstract
Objective
To examine the occurrence of arthrogryposis multiplex congenita (AMC) in Europe and
to identify possible risk factors.
Study design
Retrospective population-based epidemiological study using EUROCAT congenital anomaly
registries. The study population included all cases of AMC (based on WHO ICD-9 or
ICD-10 codes) that were livebirths (LB), fetal deaths (FD) from 20 weeks gestation
and underwent termination of pregnancy for fetal anomaly (TOPFA), 1980–2006.
Results
Among 8.9 million births covered by 24 EUROCAT congenital anomaly registries, 757
AMC cases were reported. This gives a prevalence of 8.5 per 100,000. Five hundred
and four (67%) AMC cases were LB, 199 (26%) cases were TOPFA, and FD occurred in 54
(7%) cases. First week survival status was known for 381 of the 504 LB (76%), of whom
87 (23%) died within the first week of life. Perinatal mortality associated with AMC
was 32%. Two hundred and eighty-two (37%) cases had isolated AMC, 90 (12%) had additional
syndrome or chromosomal anomalies and 385 (51%) had other major malformations. The
same or similar anomaly was reported in 13% of siblings and in 12% of the mother's
own family background. Information on prenatal testing was available for 521 cases
of which 360 tested positive for a congenital anomaly, representing a sensitivity
of 69%. Information on maternal illness before and during pregnancy and medication
use in the first trimester was available for approximately a third of the mothers,
of whom the vast majority reported no maternal illness or medication use.
Conclusion
AMC is a rare occurrence, with a reported prevalence of 1:12,000. In this study, while
information on potential risk factors such as maternal disease or maternal use of
drugs was limited, they did not appear to be associated with the occurrence of AMC.
AMC was lethal in a third of cases, either in utero or during the first week of life,
although this may not be solely attributed to AMC as most cases had additional malformations.
Keywords
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Article info
Publication history
Published online: October 04, 2011
Accepted:
September 17,
2011
Received in revised form:
July 13,
2011
Received:
November 18,
2010
Identification
Copyright
© 2011 Elsevier Ireland Ltd. Published by Elsevier Inc. All rights reserved.
