Joergensen, M W4; Rasmussen, A A5; Niemann, I7; Hindkjaer, J7; Agerholm, I6; Bolund, Lars8; Kolvraa, S6; Sunde, L8
1 Department of Biomedicine - Forskning og uddannelse, Øst, Department of Biomedicine, Health, Aarhus University2 Department of Clinical Medicine - Department of Obstetrics and Gynaecology, Department of Clinical Medicine, Health, Aarhus University3 Health, Aarhus University4 AU Information Technology - AU IT Netværksteam, Emdrup, AU IT, Central Administration, Aarhus University5 Department of Horticulture, Faculty of Agricultural Sciences, Aarhus University, Aarhus University6 Department of Human Genetics, Faculty of Health Sciences, Aarhus University, Aarhus University7 Department of Clinical Medicine - Department of Obstetrics and Gynaecology, Department of Clinical Medicine, Health, Aarhus University8 Department of Biomedicine - Forskning og uddannelse, Øst, Department of Biomedicine, Health, Aarhus University
utility for prenatal diagnosis of parental origin in human triploidy
When a triploid pregnancy is diagnosed prenatally, gynaecologists have traditionally relied on the histopathological examination of the tissue from the terminated pregnancy to determine if the pregnancy is molar. However, reproducibility is poor and variability is high when diagnosing hydatidiform moles. Triploid pregnancies can have either the chromosomal constitution of two maternal and one paternal set, or two paternal and one maternal set, but only the conceptuses with two paternal sets have the potential to cause maternal complications. Therefore, it would be beneficial to introduce a method that gives the gynaecologist the parental origin of the genome of the triploid conceptus as early as possible, without delaying the process by first collecting parental samples.
Prenatal Diagnosis, 2013, Vol 33, Issue 12, p. 1131-1136