Oligohidramniosun Eşlik Ettiği Kistik Higromalı Fetusta Prenatal Tanı: Bir Olgu Sunumu
Kistik higroma, sıvı dolu boşluklardan oluşan, lenfatik sistemin septalı veya septasız olarak izlenebilen konjenital birmalformasyonudur. Bilhassa, Turner Sendromu (45,X0) gibi kromozom anomalileriyle beraber izlenir. Özellikle kis- tik higromalar tarafından komplike edilen gebeliklerde, büyük kistlerin engellemesi veya oligohidramniosun yol aç- tığı zorluklar sebebiyle amniyotik sıvının elde edilememesi üzerine, geleneksel amniyotik sıvı kültürlerinin alternati- fi, kistik higromalardan elde edilen lenfositlerdir. Erken gebelik haftasında olan ve amniyosentezi imkansız kılan oli- gohidroamniosun da eşlik ettiği kistik higromalı bir fetüsün, daha önce literatürde az rastlanan bir şekilde, kistik hig- romasından alınan sıvısında prenatal genetik tanıya ulaşılmıştır. Bu olguyu sunmadaki amacımız, farklı bir prenataltanı yöntemini göstererek literatüre katkı sağlamaktır.
Prenatal Diagnosis in a Fetus with Cystic Higroma Associated with ligohydramnios: A Case Report
Cystic hygroma is acongenital malformation of the lymphatic system that appear as septated or nonseptated fluid- filled cavities. They are often associated with a chromosome abnormality, most commonly Turner Syndrome (45,X0).The serous fluid from the cystic hygromas is a plentiful source of lymphocytes which can be utilized as an alternativeto the traditional amniotic fluid cultures, especially in pregnancies complicated by cystic hygromas in which obtain- ing amniotic fluid sometimes can be very difficult due to the obstructions by large cysts or oligohydramnios. Prenatalgenetic sampling was performed from the fluid taken directly from the cystic hygroma of a fetus in the early gesta- tion associated with oligohydramnios which was making the amniocentesis impossible, in such a way uncommonlyseen in the literature. The purpose of this case is to present a different method of prenatal diagnosis, and thus, make acontribution to the literature.
___
- 1. Hall JG, Gilchrist DM. Turner syndrome and its variants. Pediatr Clin North Am 1990; 37:1421-1440.
- 2. Gedikbasi A, Oztarhan K, Aslan G, et al. Multidisciplinary ap- proach in cystic hygroma: prenatal diagnosis, outcome, and post- natal follow up. Pediatr Int 2009; 51(5):670-677
- 3. Gallagher PG, Mahoney MS, Gosche JR. Cystic hygroma in the fetus and newborn. Semin Perinatol 1999; 23:341-356.
- 4. Sundberg K, Bang J, Smidt-Jensen S, et al. Randomised study of risk of fetal loss related to early amniocentesis versus chorionic villus sampling. Lancet 1997; 350(9079):697-703.
- 5. Bingol B, Abike F, Gedikbasi A, Tapisiz OL, Gunenc Z. Com- parison of chromosomal abnormality rates in ICSI for non-male factor and spontaneous conception. J Assist Reprod Genet 2012; 29(1):25-30.
- 6. Dul EC, Groen H, van Ravenswaaij-Arts CM, Dijkhuizen T, van Echten-Arends J, Land JA. The prevalence of chromosomal ab- normalities in subgroups of infertile men. Hum Reprod 2012; 27(1):36-43.
- 7. Staessen C, Tournaye H, Van Assche E, et al. PGD in 47, XXY Klinefelter's syndrome patients. Hum Reprod Update 2003; 9(4):319-330.
- 8. Saenger P, Wikland KA, Conway GS, et al; Fifth International Symposium on Turner Syndrome. Recommendations for the di- agnosis and management of Turner syndrome. J Clin Endocrinol Metab 2001 ;86(7):3061-3069.
- 9. Malone FD, Ball RH, Nyberg DA, et al; FASTER Trial Research Consortium. First-trimester septated cystic hygroma: prevalence, natural history, and pediatric outcome. Obstet Gynecol 2005; 106(2):288-294.
- 10. Gallagher PG, Mahoney MS, Gosche JR. Cystic hygroma in the fetus and newborn. Semin Perinatol 1999; 23:341-356.
- 11. Jauniaux E, Pahal GS, Rodeck CH. What invasive procedure to use in early pregnancy? Baillieres Best Pract Res Clin Obstet Gy- naecol 2000; 14(4):651-662.
- 12. Ville Y, Borghi E, Pons JC, Lelorc'h M. Fetal karyotype from cyst- ic hygroma fluid. Prenat Diagn 1992; 12(2):139-143.
- 13. Costa D, Borrell A, Margarit E, et al. Rapid fetal karyotype from cystic hygroma and pleural effusions. Prenat Diagn 1995; 15(2):141-148.
- 14. Platt LD, DeVore GR, Horenstein J, et al. Performing cytogenet- ic studies on ascitic, amniotic and hygroma fluid. J Reprod Med 1990; 35(12):1145-1146.
- 15. Chen CP, Liu FF, Jan SW, Lee CC, Town DD, Lan CC. Cytoge- netic evaluation of cystic hygroma associated with hydrops fetalis, oligohydramnios or intrauterine fetal death: the roles of amniocen- tesis, postmortem chorionic villus sampling and cystic hygroma paracentesis. Acta Obstet Gynecol Scand 1996; 75(5):454-458.