Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in the <i>COL1A1</i> gene

Aerts, Marijke; Holsbeke, C. Van; Ravel, Thomy de; Devlieger, Roland

doi:10.1002/pd.1428

Cited by 6 publications

(3 citation statements)

References 5 publications

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“…The widespread utilization of ultrasound during pregnancy and the availability of genetic testing have increased the antenatal diagnosis of OI. 5 – 7 Most fetuses with moderate-to-severe OI and some with the mild forms sustain in utero fractures and a valid clinical concern would be to minimize trauma during delivery. Cesarean section (CS) has been suggested as a more favorable delivery method by some based on the notion that this method is “more controlled” and “less traumatic” than vaginal delivery and thus could potentially decrease mortality and morbidity.…”

Section: Introductionmentioning

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: Introductionmentioning

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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“…However, all cases except OI-8 exhibited severe prenatal USG findings that indicated a high risk of fatality. Variants such as p.(Gly332Arg) in OI-27, p.(Gly428Cys) in OI-1, p.(Gly833Val) in OI-28, p.(Gly1076Ser) in OI-7, and p.(Gly1166Cys) in OI-29 in COL1A1 have been reported in the literature to be associated with severe prenatal ultrasound findings, despite being located outside the established lethal regions [8, 10, 32‒36]. Moreover, it has been demonstrated for the first time that variants such as p.(Gly338Val), p.(Gly779Val), p.(Gly1049Ser), p.(Asp1413Gly) in COL1A1 and p.(Gly346Cys) in COL1A2 , albeit outside the aforementioned lethal regions, are associated with severe OI type II in the perinatal period.…”

Section: Discussionmentioning

confidence: 99%

Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta

Senturk,

Gulec,

Sarac Sivrikoz

et al. 2024

Fetal Diagn Ther

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Introduction: Counseling Osteogenesis Imperfecta (OI) pregnancies is challenging due to the wide range of onsets and clinical severities, from perinatal lethality to milder forms detected later in life. Methods: Thirty-eight individuals from 36 families were diagnosed with OI through prenatal ultrasonography and/or postmortem clinical and radiographic findings. Genetic analysis was conducted on 26 genes associated with OI in these subjects that emerged over the past 20 years, while some genes were examined progressively, all 26 genes were examined in the group where no pathogenic variations were detected. Results: Prenatal and postnatal observations both consistently showed short limbs in 97%, followed by bowing of the long bones in 89%. Among 32 evaluated cases, all exhibited cranial hypomineralization. Fractures were found in 29 (76%) cases, with multiple bones involved in 18 of them. Genetic associations were disclosed in 27 families with 22 (81%) autosomal dominant and five (19%) autosomal recessive forms, revealing 25 variants in six genes (COL1A1, COL1A2, CREB3L1, P3H1, FKBP10, and IFITM5), including nine novels. Postmortem radiological examination showed variability in intra-family expression of CREBL3 and P3H1-related OI. Conclusion: Prenatal diagnosis for distinguishing OI and its subtypes relies on factors such as family history, timing, ultrasound, genetic and postmortem evaluation.

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“…It assists in counseling parents as well as in the management of the pregnancy 1–3 . Prenatal diagnosis, postnatal confirmation and parental counseling are important for fetal osteogenesis imperfecta 4 …”

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confidence: 99%

Prenatal diagnosis of osteogenesis imperfecta type II by three‐dimensional ultrasound and computed tomography

Suzumori

Hasegawa

Sugiura‐Ogasawara³

2011

J of Obstet and Gynaecol

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Prenatal diagnosis of type II osteogenesis imperfecta, describing a new mutation in the COL1A1 gene

Cited by 6 publications

References 5 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

Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta

Prenatal diagnosis of osteogenesis imperfecta type II by three‐dimensional ultrasound and computed tomography

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