Methylation‐specific multiplex ligation‐dependent probe amplification: utility for prenatal diagnosis of parental origin in human triploidy

Joergensen, Mette Warming; Rasmussen, Anders Aamann; Niemann, Isa; Hindkjær, Johnny; Agerholm, Inge; Bolund, Lars; Kølvraa, Steen; Sunde, Lone

doi:10.1002/pd.4206

Cited by 9 publications

(7 citation statements)

References 20 publications

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“…For two cases we neither had a maternal nor a paternal blood sample (C0628, C0548). In these cases we determined the parental type of the genome using Methylation-Specific Multiplex Ligation-dependent Probe Amplification (MS-MLPA) [ 13 ] and AmpFlSTR®.…”

Section: Methodsmentioning

confidence: 99%

Triploidy—Observations in 154 Diandric Cases

et al. 2015

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Hydatidiform moles (HMs) are abnormal human pregnancies with vesicular chorionic villi, imposing two clinical challenges; miscarriage and a risk of gestational trophoblastic neoplasia (GTN). The parental type of most HMs are either diandric diploid (PP) or diandric triploid (PPM). We consecutively collected 154 triploid or near-triploid samples from conceptuses with vesicular chorionic villi. We used analysis of DNA markers and/or methylation sensitive-MLPA and collected data from registries and patients records. We performed whole genome SNP analysis of one case of twinning (PP+PM).In all 154 triploids or near-triploids we found two different paternal contributions to the genome (P1P2M). The ratios between the sex chromosomal constitutions XXX, XXY, and XYY were 5.7: 6.9: 1.0. No cases of GTN were observed. Our results corroborate that all triploid human conceptuses with vesicular chorionic villi have the parental type P1P2M. The sex chromosomal ratios suggest approximately equal frequencies of meiosis I and meiosis II errors with selection against the XYY conceptuses or a combination of dispermy, non-disjunction in meiosis I and meiosis II and selection against XYY conceptuses. Although single cases of GTN after a triploid HM have been reported, the results of this study combined with data from previous prospective studies estimate the risk of GTN after a triploid mole to 0% (95% CI: 0–1,4%).

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Section: Methodsmentioning

confidence: 99%

Triploidy—Observations in 154 Diandric Cases

et al. 2015

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“…Diandric cases in comparison to digynic ones are known to generate higher risk of maternal complications . The origin of triploidy is undetectable by conventional karyotyping, and molecular testing for the origin of the extra chromosomal set is rarely conducted in routine practice …”

Section: Introductionmentioning

confidence: 99%

Triploidy - variability of sonographic phenotypes

et al. 2017

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Nearly 40% of triploid fetuses do not have any apparent structural abnormalities, and only careful assessment of fetal growth and placenta may lead to the suspicion of the diagnosis. As diandric triploidy carry a high risk for maternal complications, identification of these cases is vital for prenatal counseling. In nearly 20% of triploid pregnancies, parental origin cannot be established based on sonographic assessment. © 2017 John Wiley & Sons, Ltd.

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“…Although the histopathological or morphological criteria for the diagnosis of molar pregnancy are clearly defined in the literature, unfortunately they are not always present in histological slides, especially in cases of early partial molar pregnancy [19,20,21,22,23].…”

Section: Discussionmentioning

confidence: 99%