İnfertilite tedavisi sonrası gelişen ikiz gebelik ve meckel-gruber sendromu

İki yıllık infertilite öyküsü sonrası rekombinan-folliküler stimulating hormon (rFSH) tedavisi ile gebe ka- lan, akraba evliliği öyküsüne sahip hasta, gebeliğinin 34. haftasında ikiz gebelik ve preterm eylem tanıla- rıyla hastanemize refere edildi. Antenatal olarak yapılan ultrasonograf (USG) değerlendirmesinde oksipitalensefalosel (OE) ve bilateral polikistik böbrekleri (PK) olan kongenital anomalili fetusta, Meckel GruberSendromu(MGS) düşünüldü, doğumdan sonra tanı doğrulanarak diğer fetusta ultrasonografk incelemedeönemli anomali izlenmedi. Bu vakayı sunma amacımız; akraba evliliğinin sık görüldüğü bölgelerde otozomalresesif geçişli hastalıklardaki artışın dikkate alınması ve infertilite tedavisi ile artan çoğul gebelikler ve bu türhastalıklar hakkında prenatal danışmanlık verilmesinin önemini vurgulamaktır.

Twin gestation and meckel-gruber syndrome after infertility treatment

A twin pregnancy case achieved with ovulation induction using recombinant FSH after two years of infertility was hospitalized due to preterm labor. Meckel-Gruber syndrome was diagnosed in one of the fetuses based on antenatal ultrasonographic fndings of occipital encephalocele and bilateral policystic kidneys. No ultra- sonographic abnormality was found in second fetus. The diagnosis was confrmed by physical examination after delivery. We aimed to draw attention to the autosomal recessive disorders especially in regions which consanguineous marriages are common. Increased multiple gestations may be another reason to consider the risk of autosomal recessive disorders and prenatal genetic counseling should be given to these families.

___

  • Fraser FC, Lytwyn A. Spectrum of anomalies in the Meckel syndrome, or: “Maybe there is a malformation syndrome with at least one constant anomaly”. Am J Med Genet 1981;9:67-73.
  • Alexiev BA, Lin X, Sun CC, Brenner DS. Meckel-Gruber Syndrome: pat- hologic manifestations, minimal diagnostic criteria, and differential diag- nosis. Arch Pathol Lab Med 2006;130:1236–1238.
  • Salonen R, Paavola P. Meckel syndrome. J Med Genet 1998;35:497-501.
  • Farag TI, Usha R, Uma R, Mady SA, al-Nagdy K, el-Badramany MH. Phenotypic variability in Meckel-Gruber syndrome. Clin Genet 1990; 38:176-179.
  • Consugar MB, Kubly VJ, Lager DJ, 5. Hommerding CJ, Wong WC, Bakker E, Gattone VH 2nd, Torres VE, Breuning MH, Harris PC. Molecular di- agnostics of Meckel–Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Hum Genet 2007;121:591–599.
  • Juabeh II, Thalji A, Dudin A. Meckel-Gruber syndrome in one of noni- dentical twins: Short case report. Acta Genet Med Gemellol(Roma) 1987; 36:571-572.
  • Dumez Y, Dommergues M, 7. Gubler MC, Bunduki V, Narcy F, LeMerrer M, Mandelbrot L, Berkowitz R. Meckel-Gruber syndrome: prenatal diagnosis at 10 menstrual weeks using embryoscopy. Prenat Diagn 1994;14:141-144.
  • Shozu M, Akimoto K, Tanaka J, Sonoda Y, Inoue M, Michikura Y. Antenatal detection of Meckel-Gruber syndrome in only one dizygotic twin following in vitro fertilization and embryo transfer. Gynecol Obstet Invest 1997;43:142-144.
  • Hall JG. Twinning. Lancet 2003;362:735-743.
  • Machin GA. Some causes of genotypic and phenotypic discordance in mo- nozygotic twin pairs. Am J Med Genet 1996; 61: 216-228.