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A Trisomy 22 Case With Multiple Structural Abnormalitıes On The Second Trimester Sonography and Related Literature Review

Yıl 2016, Cilt: 30 Sayı: 1, 39 - 43, 24.06.2016

Öz

Non-mosaic trisomy 22 is one of the common
causes of first trimester abortions. It is occasionally observed in live births
with an incidence of 1/30000-50000. Its detection is rare in the second or
third trimesters as well, and is manifested with serious growth retardation and
multiple structural abnormalities on fetal ultrasonography. Herein, we report a
case with an abnormal fetal karyotype demonstrating trisomy 22 by
cordosynthesis, that was referred to our Medical Genetic Polyclinics due to
multiple abnormalities on the second trimester fetal ultrasonography, and
subsequently discuss the prenatal ultrasonographic characteristics of trisomy
22 cases in the literature. This study was meant to highlight the importance of
prenatal karyotype analysis in abnormal sonographical 
findings with regard to the presence
of possible aneuploidies, which generally result in first trimester abortions,
but that may be observed in the second trimester although occasionally, and to
emphasize the importance of a detailed genetic counselling due to the risk of a
repetition in the following pregnancies.

Kaynakça

  • Referans1 Warburton D, Byrne J, Canki N. Chromosome Anomalies and Prenatal Development: An Atlas. Oxford; Oxford University Press, 1991.
  • Referans2 Hassold T, Chen N, Funkhouser J, et al. A cytogenetic study of 1000 spontaneous abortions. Ann Hum Genet 1980;44:151-78.
  • Referans3 Wertelecki W. Chromosome 22, trisomy mosaicism. In: Buyse ML (ed.). Birth Defects Encyclopedia. Blackwell Scientific Publications; 1990. p. 395.
  • Referans4 Bacino CA, Schreck R, Fischel-Ghodsian N, et al. Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and literature review. Am J Med Genet 1995;56:359–365.
  • Referans5 Harding K, Freeman J, Weston W, et al. Trisomy 22: prenatal diagnosis-a case report. Ultrasound Obstet Gynecol 1995;5:136–137.
  • Referans6 Morrison JJ, Hastings R, Jauniaux E. Trisomy 22: a cause of isolated fetal growth restriction. Ultrasound Obstet Gynecol 1998;11:295–297.
  • Referans7 Sepulveda W, Be C, Schnapp C, et al. Second-trimester sonographic findings in trisomy 22: report of three cases and review of literature. J Ultrasound Med 2003;22: 1271–1275.
  • Referans8 Stressig R, Kortge-Jung S, Hickmann G, et al. Prenatal sonographic findings in trisomy 22. J Ultrasound Med 2005;24:1547–1553.
  • Referans9 Crowe CA, Schwartz S, Black CJ, et al. Mosaic trisomy 22: A case presentation and literature review of trisomy 22 phenotypes. Am J Med Genet 1997;71:406–413.
  • Referans10 Schinzel A. Catalogue of Unbalanced Chromosome Aberrations in Man. Berlin, New York: Walter de Gruyter GmbH & Co. 2001.
  • Referans11 Schinzel A. Incomplete trisomy 22.III. Mosaic-trisomy 22 and the problem of full trisomy 22. Hum Genet 1981;56: 269–273.
  • Referans12 Benacerraf BR. Ultrasound of fetal syndromes. Churchill Livingstone: New York 1998; 339–340.
  • Referans13 Schwendemann WD, Contag SA, Koty PP, et al. Ultrasound findings in trisomy 22. Am J Perinatol 2009;26(2):135-7.
  • Referans14 Uehara S, Yaegashi N, Maeda T, et al. Risk of recurrence of fetal chromosomal aberrations: analysis of trisomy 21, trisomy 18, trisomy 13, and 45, X in 1,076 Japanese mothers. J Obstet Gynaecol 1999;25:373–379.

İkinci Trimester Sonografik Taramasında Multipl Yapısal Anomaliler Gösteren Trizomi 22 Olgusu ve Literatür Derlemesi

Yıl 2016, Cilt: 30 Sayı: 1, 39 - 43, 24.06.2016

Öz

Mozaik olmayan trizomi
22, ilk trimester abortuslarının yaygın nedenlerinden biridir. Canlı doğumda
görülme oranı oldukça düşüktür ve yaklaşık 1/30000-50000’dir. İkinci ve üçüncü
trimesterde saptanma oranı da oldukça düşüktür ve fetal ultrasonografide (USG)
ciddi büyüme geriliği ve multipl yapısal anomaliler ile kendini gösterir. Bu
makalede, ikinci trimesterde fetal ultrasonda multipl anomali nedeni ile Tıbbi
Genetik Polikliniği’ne yönlendirilen ve kordosentez ile yapılan fetal karyotip
analizi sonucu trizomi 22 bulunan bir fetus sunulmuş ve literatürdeki trizomi
22 olgularının prenatal sonografik özellikleri tartışılmıştır. Genellikle ilk
trimester abortusu ile sonuçlanan anöploidilerin, nadir de olsa ikinci
trimesterde karşımıza anormal USG bulguları ile çıkabileceği, anormal USG
bulgularında prenatal karyotip analizinin önemi ve anöploidilerin sonraki
gebeliklerde tekrarlama riski nedeniyle ayrıntı bir genetik danışma
verilmesinin önemi vurgulanmak istenmiştir.




Kaynakça

  • Referans1 Warburton D, Byrne J, Canki N. Chromosome Anomalies and Prenatal Development: An Atlas. Oxford; Oxford University Press, 1991.
  • Referans2 Hassold T, Chen N, Funkhouser J, et al. A cytogenetic study of 1000 spontaneous abortions. Ann Hum Genet 1980;44:151-78.
  • Referans3 Wertelecki W. Chromosome 22, trisomy mosaicism. In: Buyse ML (ed.). Birth Defects Encyclopedia. Blackwell Scientific Publications; 1990. p. 395.
  • Referans4 Bacino CA, Schreck R, Fischel-Ghodsian N, et al. Clinical and molecular studies in full trisomy 22: further delineation of the phenotype and literature review. Am J Med Genet 1995;56:359–365.
  • Referans5 Harding K, Freeman J, Weston W, et al. Trisomy 22: prenatal diagnosis-a case report. Ultrasound Obstet Gynecol 1995;5:136–137.
  • Referans6 Morrison JJ, Hastings R, Jauniaux E. Trisomy 22: a cause of isolated fetal growth restriction. Ultrasound Obstet Gynecol 1998;11:295–297.
  • Referans7 Sepulveda W, Be C, Schnapp C, et al. Second-trimester sonographic findings in trisomy 22: report of three cases and review of literature. J Ultrasound Med 2003;22: 1271–1275.
  • Referans8 Stressig R, Kortge-Jung S, Hickmann G, et al. Prenatal sonographic findings in trisomy 22. J Ultrasound Med 2005;24:1547–1553.
  • Referans9 Crowe CA, Schwartz S, Black CJ, et al. Mosaic trisomy 22: A case presentation and literature review of trisomy 22 phenotypes. Am J Med Genet 1997;71:406–413.
  • Referans10 Schinzel A. Catalogue of Unbalanced Chromosome Aberrations in Man. Berlin, New York: Walter de Gruyter GmbH & Co. 2001.
  • Referans11 Schinzel A. Incomplete trisomy 22.III. Mosaic-trisomy 22 and the problem of full trisomy 22. Hum Genet 1981;56: 269–273.
  • Referans12 Benacerraf BR. Ultrasound of fetal syndromes. Churchill Livingstone: New York 1998; 339–340.
  • Referans13 Schwendemann WD, Contag SA, Koty PP, et al. Ultrasound findings in trisomy 22. Am J Perinatol 2009;26(2):135-7.
  • Referans14 Uehara S, Yaegashi N, Maeda T, et al. Risk of recurrence of fetal chromosomal aberrations: analysis of trisomy 21, trisomy 18, trisomy 13, and 45, X in 1,076 Japanese mothers. J Obstet Gynaecol 1999;25:373–379.
Toplam 14 adet kaynakça vardır.

Ayrıntılar

Bölüm Makaleler
Yazarlar

Esra Ataman

Elif Yılmaz Güleç Bu kişi benim

Filiz Hazan Bu kişi benim

Erhan Parıltay Bu kişi benim

Deniz Acar Bu kişi benim

Ali Gedikbaşı Bu kişi benim

Halil Aslan Bu kişi benim

Yayımlanma Tarihi 24 Haziran 2016
Gönderilme Tarihi 31 Mayıs 2015
Yayımlandığı Sayı Yıl 2016 Cilt: 30 Sayı: 1

Kaynak Göster

Vancouver Ataman E, Yılmaz Güleç E, Hazan F, Parıltay E, Acar D, Gedikbaşı A, Aslan H. İkinci Trimester Sonografik Taramasında Multipl Yapısal Anomaliler Gösteren Trizomi 22 Olgusu ve Literatür Derlemesi. DEU Tıp Derg. 2016;30(1):39-43.