Pregnancy outcomes in women with osteogenesis imperfecta

Yimgang, Doris P.; Shapiro, Jay R.

doi:10.3109/14767058.2015.1085965

Cited by 18 publications

(18 citation statements)

References 22 publications

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“…Four studies did not specify the design (McAllion & Paterson, ; McKiernan, ; Migliaccio et al, ; Wekre et al, ). Fifteen studies were clinical in nature and five studies were register‐based (Folkestad et al, ; Folkestad et al, 2016; Pillion & Shapiro, , Ruiter‐Ligeti et al, ; Yimgang and Shapiro, ). All studies were published between 2000 and 2019 and were conducted in America ( n = 30), Europe ( n = 63), Asia ( n = 16), and Oceania ( n = 1).…”

Section: Resultsmentioning

confidence: 99%

“…Preterm delivery in women with OI was two times more likely compared to women without OI. Yimgang and Shapiro (2016) reported that among the 274 women with OI who had a child, 79% had OI Type I, 14% had OI Type IV, and 5% had OI Type III. Ninety-six percent (n = 246) did not need assisted conception treatments.…”

Section: Pregnancy: Empirical Evidence and Case Reports Of Varying mentioning

confidence: 99%

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Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports

Chougui

Addab

Palomo

et al. 2020

American J of Med Genetics Pt A

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Osteogenesis imperfecta (OI) is a rare genetic disorder of the bones caused by a mutation in Type I collagen genes. As adults with OI are aging, medical concerns secondary to OI may arise. This integrative review sought to review, appraise, and synthesize the clinical manifestations faced by adults with OI. Four electronic bibliographic databases were searched. Published quantitative, qualitative, and mixed‐methods studies, as well as case reports from 2000 to March 2019, addressing a clinical manifestation in adulthood, were reviewed. Eligible studies and case reports were subsequently appraised using the Mixed Methods Appraisal Tool and Case Report Checklist, respectively. Twenty quantitative studies and 88 case reports were included for review regardless of the varying methodological quality score. These studies collectively included 2,510 adults with different OI types. Several clinical manifestations were studied, and included: hearing loss, cardiac diseases, pregnancy complications, cerebrovascular manifestations, musculoskeletal manifestations, respiratory manifestations, vision impairment, and other clinical manifestations. Increased awareness may optimize prevention, treatment, and follow‐up. Opportunities to enhance the methodological quality of research including better design and methodology, multisite collaborations, and larger and diverse sampling will optimize the generalizability and transferability of findings.

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Section: Resultsmentioning

confidence: 99%

Section: Pregnancy: Empirical Evidence and Case Reports Of Varying mentioning

confidence: 99%

Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports

Chougui

Addab

Palomo

et al. 2020

American J of Med Genetics Pt A

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“…[2] The increase in preterm labor risk may be associated with antenatal bleeding, ablatio placentae, premature rupture of membrane or intrauterine growth retardation as well as maternal complications. [1,6] In our case, tightness and abdominal pain felt by the mother as the uterine got bigger, back and lumbar pain, shortness of breath and gastric irritation findings such as severe nausea and reflux made maintaining the pregnancy difficult; therefore, after we confirmed the fetal pulmonary maturation, we informed the family that newborn might need intense care support as it was a premature baby, and we planned the labor by obtaining the approval of the family.…”

Section: Discussionmentioning

confidence: 89%

“…It has been reported that such fractures can be minimized by careful positioning during delivery or surgery and performing preconceptional bisphosphonate treatment. [1,3,6,7] In addition, spontaneous uterine rupture was also reported during labor. [8] Labor induction is not recommended since it is not possible to predict how uterine contractions will develop in the presence of defective collagen.…”

Section: Discussionmentioning

confidence: 99%

Gestational management of the patient with osteogenesis imperfecta: a case report

Durdağ¹,

Kalaycı²,

Şimşek³

et al. 2018

Perinatal J

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Osteogenezis imperfekta hastas›n›n gebelik yönetimi: Olgu sunumu Amaç: Osteogenezis imperfekta (O‹), kollajen sentezinin hatal› ol-du¤u bir genetik bozukluktur. ‹skelet anomalilerine, kemiklerde ve dokularda k›r›lganl›¤a sebep olmaktad›r. Bu olgu sunumunda çerçevesinde, O‹ hastas›n›n gebelik yönetimini sunmak ve karfl›lafl›labilecek komplikasyonlar› tart›flmak istedik. Olgu: Tip I O‹ tan›l› 36 yafl›ndaki hasta, spontan gebeli¤i olmas› üzerine merkezimizde takibe al›nd›. Hastada COL1A1 geninde mutasyon tespit edildi. Koryon villus örneklemesinden yap›lan analizde fetal karyotip ve COL1A1 geninin normal oldu¤u görüldü, obstetrik ultrasonografi incelemelerinde de patoloji izlenmedi. Gebelik haftas› ilerledikçe a¤r›, solunum s›k›nt›s› ve dispeptik flikayetleri artan hastaya 34. haftada amniyosentez yap›larak fetal akci-¤er matürasyonu de¤erlendirildi. 35. haftada sezaryen ile sa¤l›kl› bir bebek do¤urtuldu. Sonuç: Genetik yap›n›n aktar›lma endiflesi, anatomik deformite nedeniyle gebeli¤i tafl›man›n zorlu¤u, gebelik ve do¤um kompli-kasyonlar›n›n daha fazla görülebilmesi O‹'l› hastalardaki temel problemlerdir. Bu hastalara genetik dan›flmanl›k önerilmelidir ve takipleri multidisipliner yaklafl›mla yap›lmal›d›r.

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“…For more than a decade the OI community in the United States has embraced registry and natural history efforts sponsored by the Osteogenesis Imperfecta Foundation (OIF), a key national OI advocacy organization dedicated to supporting individuals with OI. The OIF effort began in earnest in 2005 with the establishment of the International Osteogenesis Imperfecta Registry [32]. The OIF then funded the establishment of the Linked Clinical Research Centers (LCRC) between 2009 and 2014 (five clinical sites with dedicated OI clinics); this preliminary effort demonstrated the willingness of the OI community to participate in longitudinal clinical studies, as well.…”

Section: Disease Registries and The Osteogenesis Imperfecta Patient Pmentioning

confidence: 99%

Assessing Disease Experience across the Life Span for Individuals with Osteogenesis Imperfecta: Challenges and Opportunities for Patient-Reported Outcomes (PROs) Measurement

Tosi

Floor

Dollar

et al. 2018

Preprint

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Background: Patient reported outcome (PRO) information is crucial for establishing better patient-provider communication, improving shared decision making between clinicians and patients, and assessing patient responses to therapeutic interventions and increasing satisfaction with care. We used the Brittle Bones Disease Consortium (BBDC) Contact Registry for People with OI, managed by the Rare Disease Clinical Research Network (RDCRN) to (1) to evaluate the construct validity of the Patient-Reported Outcome Measurement Information System ® (PROMIS ® ) to record important components of the disease experience among individuals with OI; and (2) explore the feasibility of using a registry to recruit individuals with OI to report on health status. Our long-term goal is to enhance communication of health and disease management findings back to the OI community, especially those who do not have access to major OI clinical centers.Results: We demonstrated the construct validity of PROMIS instruments in OI. Our results confirm that the scores from most domains differ significantly from the general US population: individuals with OI have worse symptom burden and functioning. We found no excessive floor or ceiling effects. Our study demonstrates that the BBDC Contact Registry can be used to recruit participants for online health status surveys. However, there are numerous challenges that must be addressed: lack of self-knowledge of OI type, under-representation of men, limited ethnic diversity, and imperfect questionnaire completion rates.Conclusion: Our pilot study demonstrated the feasibility of using a contact registry to recruit respondents from the OI community and to obtain analyzable PROMIS data regarding disease experience. Because the results differ from the general population and avoid excessive floor and 5 ceiling effects, PROMIS instruments can be used to assess response to therapeutic interventions in individuals with OI. Future directions will include (1) development and validation of an OIspecific patient-based classification system that aggregates persons with similar clinical characteristics and risks for complications to identify treatment needs; and (2) integrating these PRO tools into routine patient care and research studies.

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Pregnancy outcomes in women with osteogenesis imperfecta

Cited by 18 publications

References 22 publications

Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports

Clinical manifestations of osteogenesis imperfecta in adulthood: An integrative review of quantitative studies and case reports

Gestational management of the patient with osteogenesis imperfecta: a case report

Assessing Disease Experience across the Life Span for Individuals with Osteogenesis Imperfecta: Challenges and Opportunities for Patient-Reported Outcomes (PROs) Measurement

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