Congenital limb deficiencies and major associated anomalies in Alberta for the years 1980–2012

Bedard, Tanya; Lowry, R. Brian; Sibbald, Barbara; Crawford, Susan; Kiefer, Gerhard

doi:10.1002/ajmg.a.38513

Cited by 12 publications

(11 citation statements)

References 42 publications

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“…Many previous studies have described associated anomalies in patients with LRD, but with a large range [12, 13, 15–19]. In our study, associated anomalies were poorly registered during 1970–1998.…”

Section: Discussioncontrasting

confidence: 54%

Epidemiology of limb reduction defects as registered in the Medical Birth Registry of Norway, 1970-2016: Population based study

et al. 2019

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Background Following the Thalidomide disaster, the Medical Birth Registry of Norway (MBRN) was established in 1967, with epidemiological surveillance of congenital anomalies as one main aim. Limb reduction defects (LRD) constitute a rare and heterogeneous anomaly group, where correct registration and classification is important for surveillance and research. We aimed at reviewing and recoding LRD cases in the MBRN using the same classification system for all years, and evaluate time trends, characteristics and risk factors, 1970–2016. Methods After reviewing and recoding LRD cases using International Classification of Diseases (ICD), 10 th version, for all years, time trends, association with major anomalies, risk factors and infant outcomes were calculated. Generalized linear models for the binomial family with log link gave relative risks (RR) with 95% confidence intervals (CI). Classification of LRD as suggested by European surveillance of congenital anomalies (EUROCAT) was attempted. Results Overall LRD prevalence, 1970–2016, was 4.4 per 10 000, slightly increasing during 1970–1981, followed by relatively stable rates. There were more defects in upper than lower limbs. Defects in hands/fingers were most common, but unspecific descriptions prevented classification of LRD according to EUROCAT. A majority of cases had associated anomalies, the most common being other limb defects, followed by cardiac defects and anomalies in the nervous and digestive systems. From 1999, 26% of LRD cases were terminated, more than 90% of these had associated major anomalies. Stillbirth, neonatal and infant mortality were higher among infants with LRD, also related to associated anomalies. Pre-gestational diabetes was associated with a more than three times increased risk of offspring total LRD, while no association with maternal epilepsy was found. Taking folate/multivitamin supplements before and/or during pregnancy was associated with lower risk of offspring LRD (adjusted RR 0.7; 95% CI 0.6–0.9), while daily smoking did not significantly increase the risk. Conclusion The MBRN now has information on LRD coded by ICD-10 from 1970, but information is not specific enough to use other recommended classification systems. Collecting radiographic descriptions and/or more details from hospital records would improve the quality of the registry data. Taking folate supplements before/during pregnancy may reduce the risk of offspring LRD.

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Section: Discussioncontrasting

confidence: 54%

Epidemiology of limb reduction defects as registered in the Medical Birth Registry of Norway, 1970-2016: Population based study

et al. 2019

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“…LRDs of one limb less often have a genetic cause, compared to LRDs of multiple limbs (Cobben, Hiemstra, & Robinson, 1994; Firth & Hurst, 2017; Harper, 2010), but only few studies have substantiated this. Previous epidemiological studies regarding LRDs have reported prevalence rates (general and per subcategory), the affected side (left: right ratio), symmetry, associated malformations, and diagnoses (Alberto, Barbero, Liascovich, Bidondo, & Groisman, 2020; Bedard, Lowry, Sibbald, Crawford, & Kiefer, 2018; Bedard, Lowry, Sibbald, Kiefer, & Metcalfe, 2015; Evans, Vitez, & Czeizel, 1994; Klungsoyr et al, 2019; Koskimies, Lindfors, Gissler, Peltonen, & Nietosvaara, 2011; Vasluian et al, 2013). To our knowledge there has only been one retrospective cohort study, which analyzed diagnosis rates in patients with uni‐ versus bilateral preaxial longitudinal defects of the upper limb ( n = 119) (James, Green, McCarroll, & Manske, 2004).…”

Section: Introductionmentioning

confidence: 99%

Etiological diagnosis in limb reduction defects and the number of affected limbs: A population‐based study in the Northern Netherlands

Bergman

Löhner

Sluis

et al. 2020

American J of Med Genetics Pt A

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Limb reduction defects (LRDs) that affect multiple limbs are considered to be more often heritable, but only few studies have substantiated this. We aimed to investigate if an etiological diagnosis (genetic disorder or clinically recognizable disorder) is more likely to be made when multiple limbs are affected compared to when only one limb is affected. We used data from EUROCAT Northern Netherlands and included 391 fetuses and children with LRDs born in 1981-2017. Cases were classified as having a transverse, longitudinal (preaxial/postaxial/central/mixed), intercalary, or complex LRD of one or more limbs and as having an isolated LRD or multiple congenital anomalies (MCA). We calculated the probability of obtaining an etiological diagnosis in cases with multiple affected limbs versus one affected limb using relative risk (RR) scores and Fisher's exact test. We showed that an etiological diagnosis was made three times more often when an LRD occurred in multiple limbs compared to when it occurred in one limb (RR 2.9, 95% CI 2.2-3.8, p < 0.001). No genetic disorders were found in isolated cases with only one affected limb, whereas a genetic disorder was identified in 16% of MCA cases with one affected limb. A clinically recognizable disorder was found in 47% of MCA cases with one affected limb. Genetic counseling rates were similar. We conclude that reduction defects of multiple limbs are indeed more often heritable. Genetic testing seems less useful in isolated cases with one affected limb, but is warranted in MCA cases with one affected limb.

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“…Limitations to this study include the report period is until hospital discharge without a systematic follow‐up; absence of a screening protocol for syndromic features; and heterogeneity in the access to genetic testing and evaluation by a clinical geneticist (Duarte et al, ). These factors may explain the low proportion of syndromic LRD, and the high proportion of patients with associated CA (39.2%) when comparing to the literature (20–30%) (Bedard et al, ).…”

Section: Discussionmentioning

confidence: 92%

“…There are other reports in the literature detailing associated CA in patients with LRD (Bedard, Lowry, Sibbald, & Kiefer, ; Calzolari et al, ; Evans et al, ; Klungsøyr et al, ; Rosano et al, ; Stoll et al, ; Vasluian et al, ). There are methodological differences that impede an adequate comparison, particularly regarding the exclusion of syndromic cases from the analysis.…”

Section: Discussionmentioning

confidence: 96%

Congenital limb reduction defects in 1.6 million births in Argentina

Alberto¹,

Barbero

Liascovich

et al. 2020

American J of Med Genetics Pt A

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The objectives of this study were to describe the birth prevalence of limb reduction defects (LRD) in Argentina, their clinical features, and to review the literature on this topic. The data source was the National Network of Congenital Anomalies of Argentina, a surveillance system that has been operative since 2009. Data were collected from November 1, 2009 to December 31, 2016. 1,663,610 births and 702 affected patients were registered during this period. The prevalence of LRD was 4.22/10,000 births (CI 95%: 3.93-4.54). In 15,094 stillbirths, prevalence was 30.80/10,000 (CI 95%: 22.31-40.65). Perinatal mortality (stillbirths plus early neonatal deaths) was 24.6%, mostly explained by postnatal deaths. LRD were classified according to different variables, including Gold's anatomic classification. Then, 41.0% of patients had transverse terminal defects and 50.2% had longitudinal defects. We found multiple and syndromic clinical presentation to be associated with both preaxial LRD and lethality. The prevalence of LRD was lower and perinatal mortality was higher in our study compared to that of previously published studies. Because there is heterogeneity in the inclusion and exclusion criteria among publications, a greater effort should be made in order to include similar populations and to use a unified anatomic classification and nomenclature.

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Congenital limb deficiencies and major associated anomalies in Alberta for the years 1980–2012

Cited by 12 publications

References 42 publications

Epidemiology of limb reduction defects as registered in the Medical Birth Registry of Norway, 1970-2016: Population based study

Epidemiology of limb reduction defects as registered in the Medical Birth Registry of Norway, 1970-2016: Population based study

Etiological diagnosis in limb reduction defects and the number of affected limbs: A population‐based study in the Northern Netherlands

Congenital limb reduction defects in 1.6 million births in Argentina

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