Prevalence and risk factors of radial ray deficiencies: A population‐based case–control study

Syvänen, Johanna; Raitio, Arimatias; Helenius, Ilkka; Löyttyniemi, Eliisa; Lahesmaa-Korpinen, Anna-Maria; Gissler, Mika; Nietosvaara, Yrjänä

doi:10.1002/ajmg.a.62033

Cited by 5 publications

(3 citation statements)

References 43 publications

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“…During our study period, the mean maternal age increased significantly, and the proportion of mothers over 35 years of age doubled. 22 Advanced maternal age is a known risk factor for several congenital anomalies 23 , 24 and could be one factor influencing the increasing prevalence. Also, prevalence of maternal diabetes increases with advancing maternal age, 22 which further increases the risk of several congenital anomalies.…”

Section: Discussionmentioning

confidence: 99%

Increasing Prevalence and High Risk of Associated Anomalies in Congenital Vertebral Defects: A Population-based Study

Heiskanen¹,

Syvänen²,

Helenius

et al. 2022

Journal of Pediatric Orthopaedics

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Background: Congenital vertebral anomalies are a heterogeneous group of diagnoses, and studies on their epidemiology are sparse. Our aim was to investigate the national prevalence and mortality of these anomalies, and to identify associated anomalies. Methods: We conducted a population-based nationwide register study and identified all cases with congenital vertebral anomalies in the Finnish Register of Congenital Malformations from 1997 to 2016 including live births, stillbirths, and elective terminations of pregnancy because of major fetal anomalies. Cases were categorized based on the recorded diagnoses, associated major anomalies were analyzed, and prevalence and infant mortality were calculated. Results: We identified 255 cases of congenital vertebral anomalies. Of these, 92 (36%) were diagnosed with formation defects, 18 (7.1%) with segmentation defects, and 145 (57%) had mixed vertebral anomalies. Live birth prevalence was 1.89 per 10,000, and total prevalence was 2.20/10,000, with a significantly increasing trend over time (P < 0.001). Overall infant mortality was 8.2% (18/219); 3.5% (3/86) in patients with formation defects, 5.6% (1/18) in segmentation defects, and 12.2% (14/115) in mixed vertebral anomalies (P = 0.06). Co-occurring anomalies and syndromes were associated with increased mortality, P = 0.006. Majority of the cases (82%) were associated with other major anomalies affecting most often the heart, limbs, and digestive system. Conclusions: In conclusion, the prevalence of congenital vertebral anomalies is increasing significantly in Finnish registers. Detailed and systematic examination is warranted in this patient population to identify underlying comorbidities as the majority of cases are associated with congenital major anomalies. Level of Evidence: Level III.

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Section: Discussionmentioning

confidence: 99%

Increasing Prevalence and High Risk of Associated Anomalies in Congenital Vertebral Defects: A Population-based Study

Heiskanen¹,

Syvänen²,

Helenius

et al. 2022

Journal of Pediatric Orthopaedics

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“…Recent progress in molecular biology and genetics enabled the discovery of the molecular basis of selected types of LRDs [29,30]. However, the etiology of the majority of LRDs remains unknown, and several studies highlighted the potential involvement of environmental factors [2][3][4][5]11,12,31,32].…”

Section: Discussionmentioning

confidence: 99%

“…Obesity and vitamin deficiencies (e.g., riboflavin) during pregnancy increase the fetal risk of LRDs [5,6]. Moreover, certain illnesses, injuries, and exposures to certain medications and chemical substances in the first trimester have been recognized as potential risk factors [3][4][5][6][7][8][9][10][11][12]. Nevertheless, the precise etiology of most LRDs is not well understood.…”

Section: Introductionmentioning

confidence: 99%

Maternal Risk Factors Associated with Limb Reduction Defects: Data from the Polish Registry of Congenital Malformations (PRCM)

et al. 2021

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Data from the Polish Registry of Congenital Malformations (PRCM) suggest that the prevalence of limb reduction defects (LRDs) in some Polish regions is significantly higher in comparison to that reported in the European Surveillance of Congenital Anomalies (EUROCAT) registry, but specific risk factors are still unknown. The objectives of this study were two-fold: to detect risk factors linked to isolated LRDs among Polish natives and to search for geospatial clusters of isolated LRDs to identify high-risk areas across the country. Among the 2,939,001 births accounted for in the PRCM, we determined that there were 852 children with distinct LRDs. Our data demonstrate that lower birth weight, prematurity, and maternal smoking history are strongly associated with isolated LRDs. Furthermore, our investigation pointed to various additional risk factors for isolated LRDs, including paternal education, gestational hypertension, upper respiratory tract infections, and exposure to anti-inflammatory drugs in the first trimester of pregnancy. We did not recognize statistically significant spatial or spatiotemporal clusters over the area of Poland using Kulldorff’s scan. Our study strengthens the hypothesis that maternal factors have an integral role in the etiology of isolated LRDs.

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Associated Anomalies in Radial Ray Deficiency

Stoll,

Alembik,

Roth

2024

American J of Med Genetics Pt A

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Radial ray deficiency (RRD) may be isolated, without other congenital anomalies or co‐occurring with other, non‐RRD, congenital anomalies. The prevalence and the types of co‐occurring anomalies are variable in the reported studies. The aim of this study was to obtain the prevalence and the types of co‐occurring congenital anomalies among cases with RRD in a geographically well‐characterized population of 387,067 consecutive births in northeastern France from 1979 to 2007 including live births, stillbirths and terminations of pregnancy. During the study period 83 cases with RRD were ascertained (prevalence of 2.14 per 10,000 births), 63 cases (75.9%) had co‐occurring anomalies. Cases with co‐occurring anomalies were divided into chromosomal anomalies (18 cases, 22%), syndromic conditions (syndromes and associations, 23 cases, 28%), and multiple congenital anomalies (MCA) (22 cases, 26%). Trisomies 18 and autosomal deletions were the most common chromosomal abnormalities. Thrombocytopenia absent radii syndrome, VACTERL association, Fanconi anemia, Roberts syndrome, and Holt‐Oram syndrome were the most common syndromic conditions. Anomalies in the musculoskeletal, the cardiovascular, the urinary, and the orofacial system were the most common co‐occurring anomalies in cases with MCA. As cases with RRD have often co‐occurring congenital anomalies, a multidisciplinary checkup of these cases is recommended.

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Prevalence and risk factors of radial ray deficiencies: A population‐based case–control study

Cited by 5 publications

References 43 publications

Increasing Prevalence and High Risk of Associated Anomalies in Congenital Vertebral Defects: A Population-based Study

Increasing Prevalence and High Risk of Associated Anomalies in Congenital Vertebral Defects: A Population-based Study

Maternal Risk Factors Associated with Limb Reduction Defects: Data from the Polish Registry of Congenital Malformations (PRCM)

Associated Anomalies in Radial Ray Deficiency

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