İnfertilie Tedavisi Sonrası Gelişen İkiz Gebelik ve Meckel-Gruber Sendromu

Abstract

İki yıllık infertilite öyküsü sonrası rekombinan-folliküler stimulating hormon (rFSH) tedavisi ile gebe kalan, akraba evliliği öyküsüne sahip hasta, gebeliğinin 34. haftasında ikiz gebelik ve preterm eylem tanılarıyla hastanemize refere edildi. Antenatal olarak yapılan ultrasonografi (USG) değerlendirmesinde oksipital ensefalosel (OE) ve bilateral polikistik böbrekleri (PK) olan kongenital anomalili fetusta, Meckel Gruber Sendromu(MGS) düşünüldü, doğumdan sonra tanı doğrulanarak diğer fetusta ultrasonografik incelemede önemli anomali izlenmedi. Bu vakayı sunma amacımız; akraba evliliğinin sık görüldüğü bölgelerde otozomal resesif geçişli hastalıklardaki artışın dikkate alınması ve infertilite tedavisi ile artan çoğul gebelikler ve bu tür hastalıklar hakkında prenatal danışmanlık verilmesinin önemini vurgulamaktır.

Keywords

• İnfertilite tedavisi, ikiz gebelik, Meckel-Gruber sendromu

TWIN GESTATION AND MECKEL-GRUBER SYNDROME AFTER INFERTILITY TREATMENT

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, or: “Maybe there is a malformation syndrome with at least one constant anomaly”. Am J Med Genet 1981;9:67-73.
2. 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;130:1236–1238.
3. 3. Salonen R, Paavola P. Meckel syndrome. J Med Genet 1998;35:497-501.
4. 4. 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.
5. 5. Consugar MB, Kubly VJ, Lager DJ, Hommerding CJ, Wong WC, Bakker E, Gattone VH 2nd, Torres VE, Breuning MH, Harris PC. Molecular diagnostics of Meckel–Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Hum Genet 2007;121:591–599.
6. 6. Juabeh II, Thalji A, Dudin A. Meckel-Gruber syndrome in one of nonidentical twins: Short case report. Acta Genet Med Gemellol(Roma) 1987; 36:571-572.
7. 7. Dumez Y, Dommergues M, 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.
8. 8. 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.

9. 9. Hall JG. Twinning. Lancet 2003;362:735-743. 10. Machin GA. Some causes of genotypic and phenotypic discordance in monozygotic twin pairs. Am J Med Genet 1996; 61: 216-228.