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Journals / Batı Karadeniz Tıp Dergisi / 2021 / Cilt: 5 - Sayı: 1

Prenatal Sonographic Diagnosis of Meckel-Gruber Syndrome: A Case Report

Meckel-Gruber Sendromunun Prenatal Sonografik Tanısı: Olgu Sunumu

Seyit Ahmet EROL
Ayşe KIRBAŞ
Pages
110–113
Publication Date
2022-10-12
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Especially in families with anomaly history in previous pregnancies, early ultrasonographic evaluation and genetic counseling to be given to the family afterwards are important in management.

📌 3 Key Takeaways

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Objective & Hypothesis:Aim: We report a case in which the prenatal diagnosis of Meckel Gruber (MGS) syndrome was feasible by ultrasonography in the first trimester Case report: A 26 years old woman in her second pregnancy was referred to our perinatology clinic at 13th gestational week with a suspicion of encephalocele.
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Key Findings & Data:In addition, it is a pathology with a high risk of recurrence (25%) due to its autosomal recessively inheritance.
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Conclusion & Impact:Especially in families with anomaly history in previous pregnancies, early ultrasonographic evaluation and genetic counseling to be given to the family afterwards are important in management.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Aim: We report a case in which the prenatal diagnosis of Meckel Gruber (MGS) syndrome was feasible by ultrasonography in the first trimester Case report: A 26 years old woman in her second pregnancy was referred to our perinatology clinic at 13th gestational week with a suspicion of encephalocele. The fetal kidneys were hyperechogenic and enlarged, consistent with bilateral cystic dysplasia. The hands were compatible with polydactyly. According to the sonographic findings, our prenatal sonographic diagnosis was Meckel-Gruber syndrome. Conclusion: MGS is a lethal disorder. In addition, it is a pathology with a high risk of recurrence (25%) due to its autosomal recessively inheritance. Especially in families with anomaly history in previous pregnancies, early ultrasonographic evaluation and genetic counseling to be given to the family afterwards are important in management.

Özet

Amaç: Ultrasonografi ile erken dönem, ilk trimesterde Meckel-Gruber (MGS) sendromu prenatal tanısı konulan olgu sunulmuştur. Olgu sunumu: 26 yaşında ikinci gebeliği olan gebe hasta, ensefalosel şüphesiyle 13. gebelik haftasında perinatoloji kliniğimize sevk edildi. Fetal böbrekler, bilateral kistik displazi ile uyumlu olarak hiperekojenik ve genişlemişti. Ellerde polidaktili ile uyumlu görünüm izlendi. Ultrason bulgularımıza göre, prenatal sonografik tanımız Meckel-Gruber sendromuydu. Sonuç: MGS ölümcül bir hastalıktır. Ayrıca otozomal resesif geçişli olması nedeniyle tekrarlama riski yüksek (%25) bir patolojidir. Özellikle daha önceki gebeliklerinde anomali öyküsü olan ailelerde erken ultrasonografik değerlendirme ve sonrasında aileye verilecek genetik danışmanlık yönetimde önemlidir.

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Cite This Article

EROL, S. A., KIRBAŞ, A. (2022). Prenatal Sonographic Diagnosis of Meckel-Gruber Syndrome: A Case Report. Batı Karadeniz Tıp Dergisi, Cilt: 5 - Sayı: 1, 110–113. https://ajindex.com/articles/463085

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References (14)

  1. Opitz JM, Howe JJ. The Meckel syndrome (dysencephalia spanchnocystica, the Grüber syndrome) Birth Defects 1969;2:167-179
  2. Alexiev BA, Lin X, Sun CC, Brenner DS. Meckel-Gruber syndrome: Pathologic manifestations, minimal diagnostic criteria, and differential diagnosis. Arch Pathol Lab Med 2006;130(8):1236-1238
  3. Eckmann-Scholz C, Jonat W, Zerres K, Ortiz-Brüchle N. Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome. Arch Gynecol Obstet 2012;286(4):917-921
  4. Balci S, Onol B, Erçal MD, Beksaç S, Erzen C, Akhan O. Meckel Gruber syndrome: A case diagnosed in utero. Turk J Pediatr 1992;34(3):179-185
  5. Hartill V, Szymanska K, Sharif SM, Wheway G, Johnson CA. Meckel-Gruber Syndrome: An update on diagnosis, clinical management, and research advances. Front Pediatr 2017;5:244
  6. Khurana S, Saini V, Wadhwa V, Kaur H. Meckel-Gruber syndrome: Ultrasonographic and fetal autopsy correlation. J Ultrasound 2017;20(2):167-170
  7. Leneuve-Dorilas M, Ahounkeng Nanda P, Deshayes JL. Meckel-gruber syndrome: About an evocative case in French Guiana-When ultrasound is insufficient for accurate diagnosis in a complex syndrome. Clin Case Rep 2020;8(3):433-436
  8. Roy J, Pal M. Meckel gruber syndrome. J Clin Diagn Res 2013;7(9):2102-2103
  9. Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C. Meckel-Gruber Syndrome: A population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe. Eur J Hum Genet 2015;23(6):746-752
  10. Zhang M, Chang Z, Tian Y, Wang L, Lu Y. Two novel TCTN2 mutations cause Meckel-Gruber syndrome. J Hum Genet 2020;65(11):1039-1043
  11. Barker AR, Thomas R, Dawe HR. Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development. Organogenesis 2014;10(1):96- 107
  12. Paavola P, Salonen R, Baumer A, Schinzel A, Boyd PA, Gould S, Meusburger H, Tenconi R, Barnicoat A, Winter R, Peltonen L. Clinical and genetic heterogeneity in Meckel syndrome. Hum Genet 1997;101(1):88-92
  13. Jones D, Fiozzo F, Waters B, McKnight D, Brown S. First- trimester diagnosis of Meckel-Gruber syndrome by fetal ultrasound with molecular identification of CC2D2A mutations by next-generation sequencing. Ultrasound Obstet Gynecol 2014;44(6):719-721
  14. Ridnõi K, Šois M, Vaidla E, Pajusalu S,