Prenatal Diagnosis Of Ullrich Congenital Muscular Dystrophy

Öz

Aim: In this study, we aimed to evaluate prenatal diagnosis of Ullrich Congenital Muscular Dystrophy at the pregnancies with a previous child with the disease.Material and Methods: The results of chorionic villus sampling for the prenatal diagnosis of Ullrich Congenital Muscular Dystrophy at five families with a previous child with the disease. Results of the prenatal diagnostic tests and pregnancy outcomes were evaluated. The study included patients got delivered between 2011 and 2017 at the Hacettepe University Obstetrics and Gynecology Clinic, Perinatology Department.Results: Chorionic villi samples of 9 fetuses, including 5 pregnant women including 8 pregnancies one twin pregnancy were evaluated. Collagen VI was detected as positive in six fetuses and all of these patients delivered at term. Three out of nine chorionic villus samples were found to be negative for Collagen VI and termination was performed after detailed consent of the families.Conclusions: Prenatal diagnostic studies for rare congenital muscular dystrophies such as Ullrich Congenital Muscular Dystrophy, which has a clinically large significance and morbidity, have great prospects for good medical practice.

Anahtar Kelimeler

• Ullrich coıngenital muscular dystrophy,prenatal diagnosis,collagen VI

Ullrich Konjenital Muskuler Distrofinin Prenatal Tanısı

Öz

Amaç: Bu çalışmada, önceki çocuğunda Ullrich konjenital müsküler distrofi tanısı olan hastaların, sonraki gebeliklerinde prenatal tanı amaçlı uygulanan koryon villus örneklemelerinin değerlendirilmesi amaçlandı.Gereç ve Yöntemler: 2011 ile 2017 yılları arasında, Hacettepe Üniversitesi Kadın Hastalıkları ve Doğum Kliniği, Perinatoloji Bilim Dalı’nda daha önceki çocuklarında Ullrich Konjenital Müsküler Distrofi mevcut olan beş gebenin prenatal tanı amaçlı yapılan koryon villus örneklemesi sonuçları geriye dönük olarak değerlendirildi ve gebelik sonuçları incelendi.Bulgular: Çalışmaya alınan 5 gebenin, biri ikiz gebelik olmak üzere toplam 9 fetusuna ait koryon villus örnekleri değerlendirildi. Altı fetus’da Kollajen VI pozitif olarak tespit edildi ve bu olgularda term doğum gerçekleştirildi. Üç sonuç ise Kollajen VI negatif olarak saptandı ve onamları alındıktan sonra aile kararı ile terminasyon uygulandı.Sonuç: Klinik olarak büyük öneme sahip olan Ullrich Konjenital Müsküler Distrofi gibi nadir konjenital muskuler distrofilerde indeks vaka varlığında yapılacak olan prenatal tanı çalışmaları iyi tıbbi uygulamalar açısından büyük öneme sahiptir.

Anahtar Kelimeler

• Ullrich konjenital musküler distrofi,prenatal tanı,kollajen VI

Kaynakça

1. Karpati G, Hilton-Jones D, Griggs RC. Disorders of voluntary muscle: Cambridge University Press; 2001.
2. Haliloglu G, Topaloglu H. Ullrich Congenital Muscular Dystrophy. Iranian Journal of Child Neurology. 2011;5(3):1-13.
3. Timpl R, Chu M-L. Microfibrillar collagen type VI. Extracellular matrix as- sembly and structure. 1994:208-42.
4. Weil D, Mattei M, Passage E, N'Guyen V, Pribula-Conway D, Mann K, et al. Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen. American journal of human genetics. 1988;42(3):435.
5. Kuo H-J, Maslen CL, Keene DR, Glanville RW. Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen. Journal of Biological Chemistry. 1997;272(42):26522-9.
6. Bethlem J, Wijngaarden GK. Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees. Brain: a journal of neurology. 1976;99(1):91-100.
7. Paillette L, Aicardi J, Goutières F. Ullrich's congenital atonic sclerotic mus- cular dystrophy. Journal of Neurology. 1989;236(2):108-10.
8. Vanegas OC, Bertini E, Zhang R-Z, Petrini S, Minosse C, Sabatelli P, et al. Ullrich scleroatonic muscular dystrophy is caused by recessive mutati- ons in collagen type VI. Proceedings of the National Academy of Scien- ces. 2001;98(13):7516-21.

9. Tanacan A, Aydın E, Çakar AN, Çağan M, Göksuluk D, Beksaç MS. The Effect of Prenatal Invasive Tests on Neonatal Birthweight. Gynecology Obstetrics & Reproductive Medicine. 2016;21(3):127-9.
10. Brockington M, Brown SC, Lampe A, Yuva Y, Feng L, Jimenez-Mallebrera C, et al. Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry. Prenatal diag- nosis. 2004;24(6):440-4.
11. Mercuri E, Cini C, Pichiecchio A, Allsop J, Counsell S, Zolkipli Z, et al. Muscle magnetic resonance imaging in patients with congenital mus- cular dystrophy and Ullrich phenotype. Neuromuscular disorders. 2003;13(7):554-8.
12. Mercuri E, Lampe A, Allsop J, Knight R, Pane M, Kinali M, et al. Musc- le MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy. Neuromuscular Disorders. 2005;15(4):303-10.
13. Brockington M, Brown SC, Lampe A, Yuva Y, Feng L, Jimenez‐Mallebrera C, et al. Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry. Prenatal diag- nosis. 2004;24(6):440-4.
14. Merlini L, Bernardi P. Therapy of collagen VI-related myopathies (Bethlem and Ullrich). Neurotherapeutics. 2008;5(4):613-8.