Diagnosis of Fetal Osteogenesis imperfecta by Multidisciplinary Assessment: A Retrospective Study of 10 Cases

Wu, Qichang; Wang, Wenbo; Cao, Lin; Sun, Li; Xu, Yasong; Zhong, Xiaohong

doi:10.3109/15513815.2014.962198

Cited by 6 publications

(9 citation statements)

References 15 publications

(14 reference statements)

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“…While there have been studies that have addressed the diagnosis and assessment of severity in the antenatal period, there have been no systematic studies that provide guidance on further management of pregnancy or delivery. 13 – 18 Using systematically collected data from a large cohort of subjects with non-lethal type I collagen-related OI, we tried to address issues often encountered in clinical practice including, the implications of OI on fetal presentation, and growth parameters, the effect of mode of delivery on at-birth fracture rates, characteristics that confer a higher risk for fractures, and factors influencing the choice of delivery method.…”

Section: Discussionmentioning

confidence: 99%

Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta

Bellur

Jain

Cuthbertson

et al. 2016

Genetics in Medicine

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Purpose Osteogenesis imperfecta (OI) predisposes to recurrent fractures. The moderate-to-severe forms of OI present with antenatal fractures and the mode of delivery that would be safest for the fetus is not known. Methods We conducted systematic analyses on the largest cohort of individuals (n=540) with OI enrolled to-date in the OI Linked Clinical Research Centers. Self-reported at-birth fracture rates were compared in individuals with OI types I, III, and IV. Multivariate analyses utilizing backward-elimination logistic regression model building were performed to assess the effect of multiple covariates including method of delivery on fracture-related outcomes. Results When accounting for other covariates, at-birth fracture rates did not differ based on whether delivery was by vaginal route or by cesarean section (CS). Increased birth weight conferred higher risk for fractures irrespective of the delivery method. In utero fracture, maternal history of OI, and breech presentation were strong predictors for choosing CS for delivery. Conclusion Our study, the largest to analyze the effect of various factors on at-birth fracture rates in OI shows that delivery by CS is not associated with decreased fracture rate. With the limitation that the fracture data were self-reported in this cohort, these results suggest that CS should be performed only for other maternal or fetal indications, but not for the sole purpose of fracture prevention in OI.

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Section: Discussionmentioning

confidence: 99%

Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta

Bellur

Jain

Cuthbertson

et al. 2016

Genetics in Medicine

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“… A. Reported OI fonns within and adjacent to the essential integrin binding sequence 502 GFPGER 507 (Galicka et al, 2003; Lindahl et al, 2015; Marini et al, 2007; Venturi et al, 2006; Wang et al, 2009; Wu et al, 2015). The essential integrin binding motif GFPGER was highlighted in green; the Gly residues studied in this work were underlined; the residue replacing Gly is shown below, together with the phenotypic severity of the OI (nonlethal OI case: black; lethal OI case: red; G505S: OI-IV; G508A: OI-III; G508V: OI-II; G511S: OI-III; G511D: OI-II; G514A: OI-III; G517S: OI-II).…”

Section: Figurementioning

confidence: 99%

Collagen Gly missense mutations: Effect of residue identity on collagen structure and integrin binding

Qiu

Mekkat

et al. 2018

Journal of Structural Biology

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Gly missense mutations in type I collagen, which replace a conserved Gly in the repeating (Gly-Xaa-Yaa) sequence with a larger residue, are known to cause Osteogenesis Imperfecta (OI). The clinical consequences of such mutations range from mild to lethal, with more serious clinical severity associated with larger Gly replacement residues. Here, we investigate the influence of the identity of the residue replacing Gly within and adjacent to the integrin binding GFPGER sequence on triple-helix structure, stability and integrin binding using a recombinant bacterial collagen system. Recombinant collagens were constructed with Gly substituted by Ala, Ser or Val at four positions within the integrin binding region. All constructs formed a stable triple-helix structure with a small decrease in melting temperature. Trypsin was used to probe local disruption of the triple helix, and Gly to Val replacements made the triple helix trypsin sensitive at three of the four sites. Any mutation at Gly505, eliminated integrin binding, while decreased integrin binding affinity was observed in the replacement of Gly residues at Gly502 following the order Val > Ser > Ala. Molecular dynamics simulations indicated that all Gly replacements led to transient disruption of triple-helix interchain hydrogen bonds in the region of the Gly replacement. These computational and experimental results lend insight into the complex molecular basis of the varying clinical severity of OI.

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“…While there are 20 types of OI, congenital rib fractures are more frequently encountered radiologically in OI types II and III. 12 , 13 …”

Section: Questions/discussion Points Partmentioning

confidence: 99%

“…37 The defects, inheritance patterns, and clinical signs of OI types I-IX are summarized in Table 2 . 12 , 14 , 38 , 39 , 40 , 41 , 42 , 43 , 44 …”

Section: Questions/discussion Points Partmentioning

confidence: 99%

Educational Case: Osteogenesis imperfecta

2022

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Diagnosis of Fetal Osteogenesis imperfecta by Multidisciplinary Assessment: A Retrospective Study of 10 Cases

Abstract: The definitive diagnosis of fetal OI should be accomplished using a multidisciplinary assessment, which is paramount for proper genetic counseling. With the discovery of COL1A1/2 gene variants as a cause of OI, sequence analysis of these genes will add to the diagnostic process.

Cited by 6 publications

References 15 publications

Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta

Cesarean delivery is not associated with decreased at-birth fracture rates in osteogenesis imperfecta

Collagen Gly missense mutations: Effect of residue identity on collagen structure and integrin binding

Educational Case: Osteogenesis imperfecta

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