Systematic review of sonographic findings of placental mesenchymal dysplasia and subsequent pregnancy outcome

Nayeri, Unzila A.; West, A. Brian; Nardini, Holly K. Grossetta; Copel, Joshua A.; Sfakianaki, Anna K.

doi:10.1002/uog.12359

Cited by 100 publications

(173 citation statements)

References 49 publications

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“…Finally, P1 also presented with placental mesenchymal dysplasia, which is reported in 19% of BWS cases. 22 This clinical feature is related, in more than half of cases, to other www.tandfonline.compregnancy complications, including intrauterine growth restriction and/or fetal death, preterm delivery, and spontaneous preterm labor. 22 P2 did not have primary ICR1/ICR2 methylation defects in either CVF or CVC.…”

Section: Discussionmentioning

confidence: 99%

“…22 This clinical feature is related, in more than half of cases, to other www.tandfonline.compregnancy complications, including intrauterine growth restriction and/or fetal death, preterm delivery, and spontaneous preterm labor. 22 P2 did not have primary ICR1/ICR2 methylation defects in either CVF or CVC. CDKN1C sequencing revealed a maternally inherited missense variant within exon 1 that has not been previously described and might be associated with BWS.…”

Section: Discussionmentioning

confidence: 99%

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Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi

et al. 2015

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Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder that can be prenatally suspected or diagnosed based on established clinical guidelines. Molecular confirmation is commonly performed on amniocytes. The possibility to use fresh (CVF) and cultured (CVC) chorionic villi has never been investigated. To verify whether CVF and CVC are reliable sources of DNA to study fetal methylation, we used pyrosequencing to test the methylation level of a number of differentially methylated regions (DMRs) at several imprinted loci (ICR1, ICR2, H19, PWS/AS-ICR, GNASXL, GNAS1A, ZAC/PLAGL1, and MEST) and at non-imprinted MGMT and RASSF1A promoters. We analyzed these regions in 19 healthy pregnancies and highlighted stable methylation levels between CVF and CVC at ICR1, ICR2, GNASXL, PWS/AS-ICR, and MEST. Conversely, the methylation levels at H19 promoter, GNAS1A and ZAC/PLAGL1 were different in CVC compared to fresh CV. We also investigated ICR1 and ICR2 methylation level of CVF/CVC of 2 BWS-suspected fetuses (P1 and P2). P1 showed ICR2 hypomethylation, P2 showed normal methylation at both ICR1 and ICR2. Our findings, although limited to one case of BWS fetus with an imprinting defect, can suggest that ICR1 and ICR2, but not H19, could be reliable targets for prenatal BWS diagnosis by methylation test in CVF and CVC. In addition, PWS/AS-ICR, GNASXL, and MEST, but not GNAS1A and ZAC/PLAGL1, are steadily hemimethylated in CV from healthy pregnancies, independently from culture. Thus, prenatal investigation of genomic imprinting in CV needs to be validated in a locus-specific manner.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi

et al. 2015

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“…We read with interest the article by Nayeri et al 1 'Systematic review of sonographic findings of placental mesenchymal dysplasia and subsequent pregnancy outcome'. We wish to introduce the 'stained-glass' sign, a color Doppler ultrasound finding indicative of placental mesenchymal dysplasia (PMD).…”

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confidence: 99%

“…PMD is characterized by placentomegaly with dilated and enlarged chorionic vessels 1,2 . The fetus in cases of PMD is at high risk of Beckwith-Wiedemann syndrome, preterm delivery, growth restriction or fetal death 2 .…”

mentioning

confidence: 99%

“…The observation of intraplacental 'cysts', together with the presence of an embryo or fetus, frequently leads obstetricians to misdiagnose this condition as a partial mole. Nayeri et al 1 , in a comprehensive review on ultrasound findings of PMD, found that the most common sonographic features of PMD include cystic placenta with hypoechoic areas (80% of cases) and enlarged or thickened placenta (50% of cases). Nevertheless distinguishing PMD from molar pregnancy on ultrasound is still challenging.…”

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confidence: 99%

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‘Stained‐glass’ sign for placental mesenchymal dysplasia

Kuwata

Takahashi

Matsubara

2014

Ultrasound in Obstet & Gyne

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Late diagnosis of hepatic mesenchymal hamartoma and placental mesenchymal dysplasia

Gurram

Joung

Ryder

et al. 2016

Australas J Ultrasound Med

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Placental mesenchymal dysplasia (PMD) is a rare condition characterised by placental enlargement, oedematous villi and multiple anechoic cysts. Hepatic mesenchymal hamartoma (HMH) is a benign proliferation of mesenchymal tissue, commonly seen in infants below the age of 2. We report the case of a 28 years old female who was noted to have a fetus with a well-circumscribed cyst on the liver, suggestive of HMH and a large, thickened placenta, with multiple anechoic cysts, consistent with PMD during the third trimester. There were no other structural abnormalities and at 38 weeks she underwent an induction of labour with normal vaginal delivery of a live female infant. While the aetiology is poorly understood, the increased incidence of HMH with PMD and the morphological similarities of the changes seen in both the placenta and liver, suggests a possible common developmental mechanism. There are only 12 other cases of this concurrent pathology in the literature and only one of these had resulted in a term delivery, and ours is the second one to date.

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Systematic review of sonographic findings of placental mesenchymal dysplasia and subsequent pregnancy outcome

Abstract: Objective To describe the sonographic features and pregnancy outcomes of placental mesenchymal dysplasia (PMD), an entity often misdiagnosed as molar pregnancy. Methods

Cited by 100 publications

References 49 publications

Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi

Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi

‘Stained‐glass’ sign for placental mesenchymal dysplasia

Late diagnosis of hepatic mesenchymal hamartoma and placental mesenchymal dysplasia

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