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Journals / Perinatoloji Dergisi / 2006 / Cilt: 14 - Sayı: 1

Prenatal diagnosis of osteogenesis imperfecta: A case report

Osteogenezis imperfecta’nın prenatal tanısı: Olgu sunumu

İncim BEZİRCİOĞLU
Merve BİÇER
Dilek UYSAL
Seyran YİĞİT
Ali BALOĞLU
Pages
49–54
DOI
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AI Summary & Key Takeaways

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⚡ TL;DR(Too Long; Didn't Read)

Conclusion : Today with the advances in obstetric ultrasonography, the early prenatal diagnosis of lethal skeletal dysplasias is possible In existence of ultrasonographic findings predicting lethality,the choice of termination should be offered to parents after giving a detailed information about the fetal prognosis even if the true ultrasonographic diagnosis is not available.

📌 3 Key Takeaways

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Objective & Hypothesis:Objective : Osteogenesis imperfecta is a heterogeneous group of genetic disorders characterized by severe bone fragility,abnormal ossification and multiple fractures.We report here a terminated case of osteogenesis imperfecta diagnosed with obstetric ultrasonography during sixteenth week of pregnancy.
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Key Findings & Data:Case(s) : A 19 yearold gravida 2,para 1 patient was referred to our institution following a secreening ultrasound which demonstrated skeletal anomalies of the fetus.Sonographic evaluation revealed that all long bones were short and angulated with multiple fractures, the chest was narrow and bellshaped,the echogenity of the skull was decreased and visualization of the intracranial structures were increased.Termination of the pregnancy was decided due to the ultrasonographic findings predicting lethality.The diagnosis of Osteogenezis Imperfecta type II was confirmed by postmortem radiography and autopsy examination.
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Conclusion & Impact:Conclusion : Today with the advances in obstetric ultrasonography, the early prenatal diagnosis of lethal skeletal dysplasias is possible In existence of ultrasonographic findings predicting lethality,the choice of termination should be offered to parents after giving a detailed information about the fetal prognosis even if the true ultrasonographic diagnosis is not available.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Kadın doğum cerrahi işlemleri · Doğum öncesi tanı · Osteogenezis imperfekta

Abstract

Objective : Osteogenesis imperfecta is a heterogeneous group of genetic disorders characterized by severe bone fragility,abnormal ossification and multiple fractures.We report here a terminated case of osteogenesis imperfecta diagnosed with obstetric ultrasonography during sixteenth week of pregnancy. Case(s) : A 19 yearold gravida 2,para 1 patient was referred to our institution following a secreening ultrasound which demonstrated skeletal anomalies of the fetus.Sonographic evaluation revealed that all long bones were short and angulated with multiple fractures, the chest was narrow and bellshaped,the echogenity of the skull was decreased and visualization of the intracranial structures were increased.Termination of the pregnancy was decided due to the ultrasonographic findings predicting lethality.The diagnosis of Osteogenezis Imperfecta type II was confirmed by postmortem radiography and autopsy examination. Conclusion : Today with the advances in obstetric ultrasonography, the early prenatal diagnosis of lethal skeletal dysplasias is possible In existence of ultrasonographic findings predicting lethality,the choice of termination should be offered to parents after giving a detailed information about the fetal prognosis even if the true ultrasonographic diagnosis is not available.

Özet

Amaç : Osteogenezis imperfecta kollagen maturasyonunda defekt nedeniyle kemik kırılganlığında artış,anormal kemikleşme ve çok sayıda kırıklarla karakterize heterojen bir genetik hastalıktır.Bu çalışmada gebeliğin 16 haftasında yapılan obstetrik ultrasonografi ile tanısı konularak sonlandırılan bir.Osteogenezis imperfecta olgusu sunulmuştur. Olgu(lar) : 19 yaşında gravida 2,parite1 olan olgu gebeliğin 16 haftasında yapılan ultrasonografisinde fetal iskelet anomalisi saptanması üzerine kliniğimize refere edildi.Olgunun yapılan prenatal 2 düzey ultrasonografisinde tüm ekstremitelerde uzun kemiklerin kısa bükülmüş ve çok sayıda kırık içerdiği,göğüs kafesinin kısa dar olduğu,ayrıca kafatasının düşük ekodansitede olup kafa içi yapıların olağandan daha net görüldüğü saptandı.Letaliteyi gösteren ultrasonografi bulguları nedeniyle gebeliğin terminasyonuna karar verildi.Postnatal radyografi ve otopsi bulgularıyla Osteogenezis imperfecta tip II tanısı kondu. Sonuç : Günümüzde obstetrik ultrasonografideki gelişmelerle ölümcül iskelet displazilerinin erken prenatal tanısı mümkün olabilmektedir Spesifik ultrasonografik tanı konulamasa bile letaliteyi öngören ultrasonografik belirteçlerin varlığında aileye fetal prognoz hakkında bilgi verilerek terminasyon seçeneği sunulmalıdır.

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Cite This Article

BEZİRCİOĞLU, İ., BİÇER, M., UYSAL, D., YİĞİT, S., BALOĞLU, A. (2006). Prenatal diagnosis of osteogenesis imperfecta: A case report. Perinatoloji Dergisi, Cilt: 14 - Sayı: 1, 49–54. https://ajindex.com/articles/300342

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