Lars Bolund

Methylation specific Multiplex Ligation-dependent Probe Amplification: utility for prenatal diagnosis of parental origin in human triploidy

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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.
Original languageEnglish
JournalPrenatal Diagnosis
Pages (from-to)1131-1136
Publication statusPublished - 24 Jul 2013

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