A case of triploidy detected by crosstrimester test

Paolo Guanciali-Franchi; Irene Iezzi; Barbara Matarrelli; Elisena Morizio; Giuseppe Calabrese; Giandomenico Palka

A case of triploidy detected by crosstrimester test

J Prenat Med. 2012 Jul;6(3):55-6.

Authors

Paolo Guanciali-Franchi¹, Irene Iezzi, Barbara Matarrelli, Elisena Morizio, Giuseppe Calabrese, Giandomenico Palka

Affiliation

¹ Department of Medical Genetics, "Spirito Santo" Hospital, Pescara, Italy ; Department of Medical Genetics a University of Chieti, Chieti, Italy.

PMID: 23181174
PMCID: PMC3503519

Abstract

A 40-year-old woman presented in her second pregnancy, naturally conceived. Maternal serum screening and ultrasound examination raised concerns regarding aneuploidy. After genetic counselling an amniocentesis was performed, showing a 69,XXX karyotype.Here we report a case of digynic triploidy, which resulted from fertilization of a diploid ovum by a single sperm.

Keywords: amniocentesis; maternal serum screening; prenatal diagnosis; triploidy.

Publication types

Case Reports