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

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Tarih

2012

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Georg Thieme Verlag Kg

Erişim Hakkı

info:eu-repo/semantics/openAccess

Özet

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.

Açıklama

Anahtar Kelimeler

Amniocentesis, Cordocentesis, Prenatal Diagnosis, Tetraploidy

Kaynak

Journal of Pediatric Genetics

WoS Q Değeri

N/A

Scopus Q Değeri

N/A

Cilt

1

Sayı

4

Künye