Abstract

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 findings of occipital encephalocele and bilateral policystic kidneys. No ultrasonographic abnormality was found in second fetus. The diagnosis was confirmed 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

Keywords: Infertility treatment, twin gestation, Meckel-Gruber syndrome

References

  1. 1. Fraser FC, Lytwyn A. Spectrum of anomalies in the Meckel syndrome,
  2. or: “Maybe there is a malformation syndrome with at least one constant
  3. anomaly”. Am J Med Genet 1981;9:67-73.
  4. 2. Alexiev BA, Lin X, Sun CC, Brenner DS. Meckel-Gruber Syndrome: pathologic
  5. manifestations, minimal diagnostic criteria, and differential diagnosis.
  6. Arch Pathol Lab Med 2006;130:1236–1238.
  7. 3. Salonen R, Paavola P. Meckel syndrome. J Med Genet 1998;35:497-501.
  8. 4. Farag TI, Usha R, Uma R, Mady SA, al-Nagdy K, el-Badramany MH.
  9. Phenotypic variability in Meckel-Gruber syndrome. Clin Genet 1990;
  10. 38:176-179.
  11. 5. Consugar MB, Kubly VJ, Lager DJ, Hommerding CJ, Wong WC, Bakker
  12. E, Gattone VH 2nd, Torres VE, Breuning MH, Harris PC. Molecular diagnostics
  13. of Meckel–Gruber syndrome highlights phenotypic differences
  14. between MKS1 and MKS3. Hum Genet 2007;121:591–599.
  15. 6. Juabeh II, Thalji A, Dudin A. Meckel-Gruber syndrome in one of nonidentical
  16. twins: Short case report. Acta Genet Med Gemellol(Roma) 1987;
  17. 36:571-572.
  18. 7. Dumez Y, Dommergues M, Gubler MC, Bunduki V, Narcy F, LeMerrer M,
  19. Mandelbrot L, Berkowitz R. Meckel-Gruber syndrome: prenatal diagnosis
  20. at 10 menstrual weeks using embryoscopy. Prenat Diagn 1994;14:141-
  21. 144.
  22. 8. Shozu M, Akimoto K, Tanaka J, Sonoda Y, Inoue M, Michikura Y.
  23. Antenatal detection of Meckel-Gruber syndrome in only one dizygotic
  24. twin following in vitro fertilization and embryo transfer. Gynecol Obstet
  25. Invest 1997;43:142-144.
  26. 9. Hall JG. Twinning. Lancet 2003;362:735-743.
  27. 10. Machin GA. Some causes of genotypic and phenotypic discordance in monozygotic
  28. twin pairs. Am J Med Genet 1996; 61: 216-228.

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How to cite

1.
Evsen MS, Sak ME, Ünlü S. TWIN GESTATION AND MECKEL-GRUBER SYNDROME AFTER INFERTILITY TREATMENT. Turk J Pediatr Dis [Internet]. 2010 Dec. 1 [cited 2025 May 24];4(1):48-52. Available from: https://turkjpediatrdis.org/article/view/96