Correlation of Confined Placental Mosaicism with Fetal Intrauterine Growth Retardation

Yoshiura

American J of Med Genetics Pt A

et al. 2006

The purpose of this study was to know a role of confined placental mosaicism (CPM) in perinatal outcome and postnatal growth and development of infants with intrauterine growth restriction (IUGR). We selected 50 infants with IUGR (<-2.0 SD) from 3,257 deliveries in a regional medical center during the past 10-year period, and carried out cytogenetic and molecular analyses in their placenta and cord blood. Of the 50 infants, 8 had CPM (CPM group) and were composed of five single (CPM2, 7, 13, 22, and 22), one double (CPM7/13), and one quadruple trisomy (CPM2/7/15/20), and one partial monosomy [del(2)(p16)]. The origin of an extra chromosome of trisomy was maternal in six cases of CPM, paternal in one, and undetermined in one. Uniparental disomy in disomic cell lines was ruled out in all these mosaics. We also compared clinical parameters for perinatal outcome between CPM group and infants without evidence of CPM (non-CPM group), such as maternal and gestational age, birth weight, Apgar score, cord blood pH, gender, and uterine artery patterns by Doppler ultrasonography, as well as weight, height, and developmental quotient (DQ) by Denver Developmental Screening Test at age 12 months. Phenotypic abnormalities were noted in two infants with CPM and three infants of non-CPM group: One with CPM22 had ASD and hypospadias, one with CPM7/13 had Russell-Silver syndrome (RSS), and one without CPM had polydactyly, and two without CPM had RSS. All but one infant with CPM are alive at age 12 months. Among the clinical parameters, the detection rate of a notch waveform pattern of the uterine artery was significantly higher in the CPM group (P < 0.05). However, no significant difference was noted in perinatal outcome of pregnancy and in DQ at age 12 months between the two groups. Interestingly, short stature (<-2 SD) at age 12 months was more frequently seen in CPM group (7/8 infants with CPM vs. 8/15 infants without CPM), although no statistically significant difference was obtained. The information obtained will be useful for perinatal care and genetic counseling for infants with IUGR and CPM.

Section: Discussionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause

Yoshiura

American J of Med Genetics Pt A

et al. 2006

American J of Med Genetics Pt A

“…The incidence of CPM in the general population affected by IUGR is roughly ten times higher than in pregnancies with a normal outcome (Table IV). However, the incidence of CPM in the general population in association with congenital abnormalities is hard to estimate because the study of CPM in such cases is often not undertaken [Kennerknecht et al, 1993;Stipolijev et al, 2001]. The rate of CPM in the ICSI population, a population which may be at a higher risk for being affected by CPM, is currently unknown.…”

Section: Discussionmentioning

confidence: 99%

Investigation of confined placental mosaicism (CPM) at multiple sites in post‐delivery placentas derived through intracytoplasmic sperm injection (ICSI)

Minor

Harmer

Peters

et al. 2005

Although earlier studies on pregnancies derived through intracytoplasmic sperm injection (ICSI) reported increased non-mosaic aneuploidy among ICSI children, undetected mosaicism, such as confined placental mosaicism (CPM) has not been evaluated. We investigated the incidence of CPM in post-delivery placentas derived from ICSI, evaluated whether CPM was increased and whether it was a contributing factor to negative pregnancy outcome. [Fifty-one post-delivery placentas were collected from patients who underwent ICSI with a normal or negative pregnancy outcome]. Trophoblast and chorionic stroma from three sites were analyzed by comparative genomic hybridization (CGH) and flow cytometry. Detected abnormalities were confirmed by fluorescence in situ hybridization (FISH). The incidence of CPM in the ICSI population was compared to the general population from published data. We detected three cases of CPM in our study. One abnormality was found by CGH analysis; partial trisomy 7q and a partial monosomy Xp limited to the trophoblast at two sites. The abnormality was associated with a child affected by spina bifida. Two cases of mosaic tetraploidy were observed by flow cytometry in pregnancies with a normal outcome. All three abnormalities were confirmed by FISH analysis. The incidence of CPM in the ICSI study population was 5.88% (3/51), which was not statistically different from published reports in the general population (5.88% (42/714), Chi square, P > 0.05). The post-ICSI population was not at risk for CPM in this study.

“…Fetal injuries in cases of mesenchymal dysplasia are well reported and it is known that about 1-2% of this change, often unsuspected, is associated with placental mosaicism [25].…”

Section: Placental Pathological Features and Adverse Fetal Outcomementioning

confidence: 99%

“…Both cord's pathology and pathology related to the presence of VA are well documented and understood. Secondary vasculogenic organ damage and destructive lesions can occur in the survivor after fetal death of one twin, particularly in monochorionic twins, while polyhydramnios and oligohydramnios are most frequently found in chronic TTTS and yet justify the discrepancy of fetal growth [25].…”

Section: Placental Pathological Features and Adverse Fetal Outcomementioning

confidence: 99%

Macroscopic and Histopathological Study of the Placenta - An Essential Resource in Litigation Processes

Nogueira¹,

F²

2015

J Clinic Res Bioeth

The pathological study of the placenta is of upmost importance in cases of unexplained fetal/perinatal loss and often these carry litigation implications. Integrating pathological findings and the underlying pathophysiological processes, leading to placental lesions, is fundamental for the evaluation of poor fetal and perinatal outcomes and to distinguish from cases of true negligence.Keywords: Placenta; Litigation process; Pathology study; Histopathology Overall PerspectiveUnderstanding the placental function has been crucial for a clinical and well-founded interpretation of pathological alterations associated with poor obstetric outcomes. The anatomopathological study of the placenta allows the investigation of unforeseen cases of fetal/perinatal loss, while further developing our knowledge of some neonatal diseases. The significance of this study is even greater if one considers that about 3/1,000 children will suffer of some sort of cerebral palsy [1][2][3][4]. The increase of litigation processes towards hospitals and obstetricians is a reality and in most cases, the litigant part claims negligence. Setting aside, well documented cases of true negligence, one must consciously and responsibly select cases with pathology associated with a poor obstetric outcome. For this purpose, the study of the placental is fundamental [5]. It is important to note that, the aim of this article is not to describe any epidemiological study of specific cases of placental disorders but, to emphasize that the study of the placenta may reveal undiagnosed or unsuspected pathologies in cases of poor obstetric outcomes that explains and justifies fetal/perinatal loss. Placental pathological features and adverse fetal outcomeImplantation anomalies can lead to velamentous cord insertion with or without vasa previa, to placental accrete and/or to placenta previa and it is well documented its relationship with neurological damage and increased risk of fetal loss [6,7].Placental infarction is a pathological condition of unknown etiology with distinctive features and has been associated with fetal intrauterine growth retardation (IUGR), microcephaly and neurological complications [1,8].Decidual arteriopathy is a type of injury diagnosed only histologically and usually occurs as result of maternal circulatory disorders, such as pre-eclampsia, hypertension, antiphospholipidic syndrome and thrombophilia. It is also associated with placental poor perfusion and low weight, leading to IUGR [6,9]. The period of time that, placental lesions take to evolve and extend, and how they become installed are determining factors for fetal complications. The most common example is the abrupt placenta, a serious condition in which, the time period taken to develop a retroplacental hematoma is crucial for the macroscopic interpretation of the lesion and is critical to understand fetal complications. When fetal death does not occur, neurological damage is usually frequent [2,3]. Similarly, placental infarctions have consequent fetal complications acco...