A Dandy-Walker Variant Prenatally Diagnosed Using Ultrasound on One of the Fetuses of a Twin Pregnancy Obtained through In Vitro Fertilization
Keywords:
Dandy-Walker Syndrome, Ultrasound, Twin Pregnancy, IVF, Vermis, Prenatal Diagnosis
Abstract
We present the case of a patient aged 42 years, who was sterile of undiagnosed nature and who resorted to IVF, as a last resort to get pregnant. Following this procedure, a twin pregnancy resulted. Ultrasound investigation, of the "second opinion" type performed using a Voluson E8 ultrasound 4D module highlighted: twin pregnancy 34.1 weeks old in evolution; A female fetus without visible malformations on the ultrasound, estimated weight of 2,300 g; B female fetus with borderline ventriculomegalia and vermis hypoplasia with Dandy-Walker cyst appearance, plus a rare malformation association, hypotelorism. Estimated fetal weight is 2,500 g. It is the first case described in the specialized literature of a version of Dandy-Walker syndrome prenatally diagnosed on one of the fetuses of a twin pregnancy, resulting from in vitro fertilization. The probable etiology of the malformation is genetic, hence the need for careful supervision of all high-risk pregnancies and the need of genetic counseling and consultation, with the final aim of limiting the appearance of affected newborns.
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References
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12. Has R, Ermiş H, Yüksel A, Ibrahimoğlu L, Yildirim A, Sezer HD, Başaran S. Dandy-Walker malformation: a review of 78 cases diagnosed by prenatal sonography. Fetal Diagn Ther. 2004 Jul-Aug;19(4):342-7. Review. [PubMed]
13. Klein O, Pierre-Kahn A, Boddaert N, Parisot D, Brunelle F. Dandy-Walker malformation: prenatal diagnosis and prognosis. Childs Nerv Syst. 2003 Aug;19(7-8):484-9. Epub 2003 Jul 16. [PubMed]
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15. Sasaki-Adams D, Elbabaa SK, Jewells V, Carter L, Campbell JW, Ritter AM. The Dandy-Walker variant: a case series of 24 pediatric patients and evaluation of associated anomalies, incidence of hydrocephalus, and developmental outcomes. J Neurosurg Pediatr. 2008 Sep;2(3):194-9. doi: 10.3171/PED/2008/2/9/194. [PubMed]
16. Koul RL1, Chacko A, Leven HO. Dandy-Walker syndrome in association with neurofibromatosis in monozygotic twins. Saudi Medical Journal 2000; Vol. 21 (4): 390-392.
17. Kumbak, Banu; Bor, Meltem; Bahçeci, Mustafa. Dandy-Walker Variant in A Fetus of an ICSI Twin Gestation: A Case Report. Balkan Medical Journal; Jun2011, Vol. 28 Issue 2, p219.
18. Spennato P, Mirone G, Nastro A, Buonocore MC, Ruggiero C, Trischitta V, Aliberti F, Cinalli G. Hydrocephalus in Dandy-Walker malformation. Childs Nerv Syst. 2011 Oct;27(10):1665-81. doi: 10.1007/s00381-011-1544-4. Epub 2011 Sep 17. Review.
2. Albu D., Albu C., Dumitrescu M, Severin E. Prenatal diagnosis of Dandy-Walker malformation: case report. European Human Genetics Conference, Austria, Vienna, 2009.
3. Ecker JL, Shipp TD, Bromley B et-al. The sonographic diagnosis of Dandy-Walker and Dandy-Walker variant: associated findings and outcomes. Prenat. Diagn. 2000;20 (4):328-32. [PubMed]
4. Albu D., Deva D., Albu C., Severin E. Prenatal ultrasound detection of a Dandy-Walker malformation: Case report. International Congress on Prevention of Congenital Diseases. Journal of Inherited Metabolic Disease, Volume 34, Supplement 1, 1-16, DOI: 10.1007/s10545-011-9312-x
5. Barkovich AJ, Millen KJ, Dobyns WB. A developmental and genetic classification for midbrain-hindbrain malformations. Brain. 2009;132 (Pt): 3199-230. [PubMed]
6. Estroff JA, Scott MR, Benacerraf BR. Dandy-Walker variant: prenatal sonographic features and clinical outcome. Radiology. 1992 Dec;185(3):755-8.
7. Oncescu A, Albu D., Albu C. The utility of the echographic exam in detection of cromosomal abnormalities and other pluri malformative syndromes associated with Dandy-Walker syndrome: review of 15 cases in 2012. Ultrasound in Obstetrics & Gynecology , John Wiley & Sons, Ltd., ISSN 0960-7692, 2013; 42, Suppl. 1: 113–179, 149.
8. Muncean M.G., Cioata I.T., Huditeanu A., Motoc A., Munteanu I. Dandy-Walker Syndrome Variety in the Context of a Polimalformative Syndrome. The Limits of Conventional Ultrasound Examination. Timisoara, Medical Jurnal, nr. 3-4, 2008.
9. Oncescu A, Albu D., Albu C. The utility of the echographic exam in detection of cromosomal abnormalities and other pluri malformative syndromes associated with Dandy-Walker syndrome: review of 15 cases in 2012. Ultrasound in Obstetrics & Gynecology , John Wiley & Sons, Ltd., ISSN 0960-7692, 2013; 42, Suppl. 1: 113–179, 149.
10. Ulm B, Ulm MR, Deutinger J, Bernaschek G. Isolated Dandy-Walker malformation: prenatal diagnosis in two consecutive pregnancies. Am J Perinatol. 1999;16(2):61-3. [PubMed]
11. Harper T, Fordham LA, Wolfe HM. The fetal dandy walker complex: associated anomalies, perinatal outcome and postnatal imaging. Fetal Diagn Ther. 2007;22(4):277-81.
12. Has R, Ermiş H, Yüksel A, Ibrahimoğlu L, Yildirim A, Sezer HD, Başaran S. Dandy-Walker malformation: a review of 78 cases diagnosed by prenatal sonography. Fetal Diagn Ther. 2004 Jul-Aug;19(4):342-7. Review. [PubMed]
13. Klein O, Pierre-Kahn A, Boddaert N, Parisot D, Brunelle F. Dandy-Walker malformation: prenatal diagnosis and prognosis. Childs Nerv Syst. 2003 Aug;19(7-8):484-9. Epub 2003 Jul 16. [PubMed]
14. Imataka G, Yamanouchi H, Arisaka O. Dandy-Walker syndrome and chromosomal abnormalities. Congenit Anom (Kyoto). 2007 Dec;47(4):113-8. Review. [PubMed]
15. Sasaki-Adams D, Elbabaa SK, Jewells V, Carter L, Campbell JW, Ritter AM. The Dandy-Walker variant: a case series of 24 pediatric patients and evaluation of associated anomalies, incidence of hydrocephalus, and developmental outcomes. J Neurosurg Pediatr. 2008 Sep;2(3):194-9. doi: 10.3171/PED/2008/2/9/194. [PubMed]
16. Koul RL1, Chacko A, Leven HO. Dandy-Walker syndrome in association with neurofibromatosis in monozygotic twins. Saudi Medical Journal 2000; Vol. 21 (4): 390-392.
17. Kumbak, Banu; Bor, Meltem; Bahçeci, Mustafa. Dandy-Walker Variant in A Fetus of an ICSI Twin Gestation: A Case Report. Balkan Medical Journal; Jun2011, Vol. 28 Issue 2, p219.
18. Spennato P, Mirone G, Nastro A, Buonocore MC, Ruggiero C, Trischitta V, Aliberti F, Cinalli G. Hydrocephalus in Dandy-Walker malformation. Childs Nerv Syst. 2011 Oct;27(10):1665-81. doi: 10.1007/s00381-011-1544-4. Epub 2011 Sep 17. Review.
CITATION
DOI: 10.17511/ijmrr.2015.i1.22
Published: 2015-02-28
How to Cite
1.
Albu D-F, Albu C-C, Albu S-D. A Dandy-Walker Variant Prenatally Diagnosed Using Ultrasound on One of the Fetuses of a Twin Pregnancy Obtained through In Vitro Fertilization. Int J Med Res Rev [Internet]. 2015Feb.28 [cited 2024Nov.23];3(1):127-31. Available from: https://ijmrr.medresearch.in/index.php/ijmrr/article/view/196
Section
Case Report
OAI - Open Archives Initiative
