Triploidy is a disorder involving the occurrence of an additional set of chromosomes in cells. It is accompanied by multiple fetal and placental anatomical abnormalities. Triploidy typically leads to embryos or fetuses being miscarried in an early stage of pregnancy. Fetuses with this abnormality rarely survive until the third trimester. The case studies of two pregnancies diagnosed prenatally with triploidy are presented below in the context of the identified abnormalities and relevant literature.
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1. McFadden DE Kwong LC Yam IY Langlois S. Parental origin of triploidy in human fetuses: evidence for genomic imprinting. Hum Genet 1993;92:465-469
2. Daniel A Wu Z Bennetts B Slater H Osborn R Jackson J Pupko V Nelson J Watson G Cooke-Yarborough C Loo C. Karyotype phenotype and parental origin in 19 cases of triploidy. Prenat Diagn 2001;21:1034-1048
3. McFadden DE Kalousek DK. Two different phenotypes of fetuses with chromosomal triploidy: correlation with parental origin of the extra haploid set. Am J Med Genet 1991;38:535-538
4. Doshi N Surti U Szulman AE. Morphologic anomalies in triploid liveborn fetuses. Hum Pathol 1983;14:716-723
5. Jacobs PA Angell RR Buchanan IM Hassold TJ Matsuyama AM Manuel B. The origin of human triploids. Ann Hum Genet. 1978;42:49-57
6. McFadden DE Robinson WP. Phenotype of triploid embryos. J Med Genet. 2006;43:609-612
7. Rosenbusch BE. Mechanisms giving rise to triploid zygotes during assisted reproduction. Fertil Steril. 2008;90:49-55
8. Kang HJ Rosenwaks Z. Triploidy - the breakdown of monogamy between sperm and egg Int. J. Dev. Biol. 2008;52: 449-454
9. Santhananthan AH. Paternal centrosomic dynamics in the early human development and infertility. J Assist Reprod Genet 1998;15:129-138
10. Hasegawa T Harada N Ikeda K Ishii T Hokuto I Kasai K Tanaka M Fukuzawa R Niikawa N Matsuo N. Digynic triploid infant surviving for 46 days. An J Med Genet. 1999;87:306-310.
11. Mittal TK Gordon MV Morrissey BM Jones A. Triploidy: Antenatal sonographic features with post-mortem correlation Prenat Diagn.1998;18:1253-1262
12. Jauniaux E Brown R Rodeck C Nicolaides KH. Prenatal diagnosis of triploidy during the second trimester of pregnancy. Obstet Gynecol. 1996;88:983-989.
13. Jones K. Smith’s Recognizable Patterns Of Human Malformation. Sixth Edition 2005
14. Pokrzywnicka M Krajewski P Chudzik A. Żywo urodzone dziecko z triploidią jako problem kliniczny zobrazowany opisem przypadku. Perinatologia Neonatologia i Ginekologia 2010;3:153-155