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J Pediatr Genet 2012; 01(04): 243-246
DOI: 10.3233/PGE-12039
Georg Thieme Verlag KG Stuttgart – New York

A case of complete tetraploidy in amniocentesis with normal karyotype in subsequent cordocentesis

Mahmut Balkan
a   Department of Medical Biology and Genetics, Faculty of Medicine, Dicle University, Diyarbakir, Turkey
,
Mehmet Fidanboy
a   Department of Medical Biology and Genetics, Faculty of Medicine, Dicle University, Diyarbakir, Turkey
,
Hilmi İsi
a   Department of Medical Biology and Genetics, Faculty of Medicine, Dicle University, Diyarbakir, Turkey
,
Halit Akbaş
a   Department of Medical Biology and Genetics, Faculty of Medicine, Dicle University, Diyarbakir, Turkey
,
Sevgi Kalkanli
a   Department of Medical Biology and Genetics, Faculty of Medicine, Dicle University, Diyarbakir, Turkey
,
M. Nail Alp
a   Department of Medical Biology and Genetics, Faculty of Medicine, Dicle University, Diyarbakir, Turkey
,
Turgay Budak
a   Department of Medical Biology and Genetics, Faculty of Medicine, Dicle University, Diyarbakir, Turkey
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Publication History

04 January 2012

17 February 2012

Publication Date:
27 July 2015 (online)

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Abstract

We report a case of complete tetraploidy in amniotic fluid culture obtained at 17 wk of pregnancy. Amniocentesis was performed in this pregnancy because of a high-risk maternal serum screening result and abnormal ultrasound findings. Amniotic fluid was cultured in two flasks. Growth was very slow in one culture with no growth in the other. Harvest was possible after 3 wk, which revealed tetraploidy in all studied plates. Subsequent cordocentesis was performed to confirm the diagnoses of amniocentesis. Chromosomal analysis of the cordocentesis revealed a normal karyotype with 46,XY. A healthy male infant was born at term. This case illustrates that abnormal karyotypes in poor growth cultures could be misleading and should be confirmed by another technique, such as cordocentesis.

Keywords

Amniocentesis - cordocentesis - prenatal diagnosis - tetraploidy