Placental Mesenchymal Dysplasia Is Associated With High Rates of Intrauterine Growth Restriction and Fetal Demise: A Report of 11 New Cases and a Review of the Literature

Abstract

Placental mesenchymal dysplasia (PMD) is a rare condition of placentomegaly and abnormal chorionic villi often clinically mistakenly as partial hydatidiform mole. However, it is clinicopathologically distinct with high incidence of intrauterine growth restriction (IUGR) and fetal death. This study presents 11 new PMD cases and provides a meta-analysis of the associated IUGR and fetal death rates. The cases were identified between 1971 and 2005, mostly from consultation files. To our knowledge, 71 PMD cases have previously been reported; 15 of these were associated with Beckwith-Wiedemann syndrome (BWS). With the addition of our new results, among all cases without BWS, 50% had IUGR and 43% had intrauterine fetal demise (IUFD) or neonatal death. Females represented 82% of cases. Thus, PMD is associated with high IUGR and IUFD/neonatal death rates and disproportionally affects females. The cause and pathogenesis are yet unknown. The current understanding and hypotheses involving PMD are discussed.

Prenatal molecular testing for Beckwith–Wiedemann and Silver–Russell syndromes: a challenge for molecular analysis and genetic counseling

“…A recognizable facial gestalt of BWS is common and may include prominent eyes with intraorbital creases, facial naevus flammeus, midfacial hypoplasia, full lower lips, earlobe creases and posterior helical pits. Additional clinical features of BWS include neonatal hypoglycemia, hemihyperplasia, organomegaly (heart, liver, Table 2 Suitability of different (methylation-specific (MS)) methods for prenatal testing 34 omphalocele (detectable after the thirteenth week of pregnancy (wp)), polyhydramnios and fetal macrosomia (detectable after the nineteenth wp) ( Table 1). 35 The incidence of polyhydramnios, premature birth and fetal macrosomia in BWS has been estimated as~50% (for gene reviews, see Shuman et al 15 ).…”

‘Stained‐glass’ sign for placental mesenchymal dysplasia

“…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 .…”

Placental mesenchymal dysplasia associated with severe preeclampsia: A case report

“…Females represented 82% of cases. PMD is associated with high IUGR and IUFD/neonatal death rates and disproportionally affects females [5]. Chromosomal abnormalities may be found in a few fetuses, but most are karyotypically and phenotypically normal females.…”

“…Three cases were chromosomally normal, 1 case did not analyze chromosome. Two cases were IUFD and they had BWS, and 1 case got therapeutic abortion and had a probability of having BWS [5]. In ongoing pregnancies, the absence of any relationship between the placental size and weight and a specifi c fetal or maternal complication suggests that the size of the placenta has little infl uence on the clinical outcome.…”