ABSTRACT Congenital cytomegalovirus (CMV) infection is a significant cause of brain disorders, such as microcephaly, mental retardation, hearing loss and visual disorders in humans. The type and severity of brain disorder may be dependent on the stage of embryonic development when the congenital infection occurs. Developmental disorders may be associated with the type of embryonic cells to which CMV is susceptible and the effects of the infection on the cellular functions of these cells. Early murine embryos, including embryonic stem (ES) cells, are not susceptible to CMV infection. A part of the embryonic cells acquire susceptibility during early development. Mesenchymal cells are the targets of infection at midgestation, affecting organogenesis of the brain, eyes and oral-facial regions. In contrast to ES cells, neural stem progenitor cells (NSPC) from fetal brains are susceptible to murine CMV (MCMV) infection. The viral infection inhibits proliferation and differentiation of the NSPC to neuronal and glial cells in addition to induction of neuronal cell loss. These cellular events may cause brain malformations, such as microcephaly and polymicrogyria. Furthermore, MCMV persists in neuronal cells in developing brains, presumably resulting in neuronal dysfunction.
ABSTRACT Isolated levocardia (IL) is a rare condition of situs anomaly in which there is a normal left-sided heart (levocardia) with dextro position of the abdominal viscera. IL has been reported in children and adults with complex cardiac defects, whereas there are only few published reports regarding the prenatal diagnosis of IL. We report two prenatal cases of IL diagnosed by ultrasonography and magnetic resonance imaging (MRI). In both cases, fetal cardiac function remained within the normal range throughout pregnancy, and no treatment for the heart was required after birth. For the dextro position of abdominal viscera, one case was followed without any surgical procedure, but the other case required prophylactic operation due to malrotation of the small intestine. Although the prognosis of IL largely depends on the severity of associated cardiac anomaly, future bowel obstruction caused by intestinal malrotation may also be life-threatening. In this respect, prenatal diagnosis of IL is important, even when there is no associated cardiac structural anomaly. If IL is suspected in routine fetal ultrasonography, MRI may be recommended to obtain more detailed information on the anatomy of abdominal viscerae, and careful observation for bowel problems is required, especially after oral nutrition is started.
ABSTRACT Cytogenetic amniocentesis (CA) has been performed as a reliable prenatal diagnostic method for decades. The aims of the present study were to reveal the frequency of fetal chromosome abnormalities according to medical indications of CA, and to assess the risks of specific abnormal ultrasound findings. Data on chromosome karyotypes of fetuses from 5043 Japanese mothers were collected. Group I comprised 4626 fetuses whose mothers underwent CA due to a variety of parental reasons. Group II comprised 417 fetuses whose mothers underwent CA due to fetal abnormality, abnormality of amniotic fluid volume and fetal growth restriction. The frequency of chromosome abnormalities in Group II (17.7%) was significantly higher than in Group I (1.8%). The frequencies of chromosome abnormalities in Group II singleton fetuses with fetal abnormality, polyhydramnios and fetal growth restriction were 21.5, 22.9 and 19.6%, respectively. By multivariate analyses, we found that cystic hygroma (odds ratio 5.6, 95% CI 2.7–11.6), abnormal extremity (5.0, 1.7–14.4) and cardiovascular abnormality (3.3, 1.1–10.1) were significant variants associated with fetal chromosomal abnormalities. Information revealed in the present study constitutes a beneficial reference for genetic counseling.
ABSTRACT A dicephalous, 1-day-old, female goat kid was presented for anatomical study. Epoxy plastination slices (E12) were used successfully to explore this condition. They provided excellent anatomic and bone detail, demonstrating organ position, shared structures, and vascular anatomy. Sheet plastination (E12) was used as an optimal method to clarify how the two heads were united, especially the neuroanatomy. The plastinated transparent slices allowed detailed study of the anatomical structures, in a non-collapsed and non-dislocated state. Thus, we anatomically explored this rare condition without traditional dissection. The advantages of plastination extended to the preservation at room temperature of this case for further topographical investigation. To the authors' best knowledge, this is the first published report of plastination of a dicephalous goat.
ABSTRACT Chorangiosis is a vascular hyperplasia in the terminal chorionic villi, usually diagnosed histologically using the criteria of Altshuler. Its true etiology has not been fully identified, but chorangiosis has been proposed to result from a longstanding, rather low-grade hypoxia in the placental tissue. To clarify a possible association of placental oxygenation status with the development of chorangiosis, we measured placental tissue oxygen index (TOI) values using near-infrared spectroscopy (NIRS) before delivery and retrospectively compared them to the detection of placental chorangiosis, in a total of 47 (46 singleton and one set of dichorionic diamniotic twins) pregnant women. Small for gestational age (SGA) and/or maternal complications were observed in all cases of placental chorangiosis. Placental TOI values were significantly elevated in cases of chorangiosis. This indicates high oxygen saturation in the intervillous spaces because placental TOI values are expected to represent the oxygenation of maternal blood in the placental tissue. A possible preceding low efficiency of oxygen transfer to the fetal circulation in the villi might not only augment the oxygen saturation of maternal blood in intervillous spaces, but also cause rather low oxygenation in the capillaries of the villi and result in chorangiosis.
ABSTRACT Tenascin-W is a tenascin family member that forms part of a complex extracellular matrix, and previous studies have suggested its association with osteogenesis. In the present study we investigated the roles of tenascin-W in osteogenesis. We found that tenascin-W is expressed in osteoblasts at the edge of the developing bone domain prior to mineralization in mouse fetuses. Expression of tenascin-W was induced during the course of mineralization of the Kusa-A1 osteoblast cell line. In the interfrontal suture of postnatal mice, the anterior portion remains patent and the posterior portion closes by 4 weeks of age. Tenascin-W expression was downregulated at 1 week of age in the posterior frontal suture, whereas in the anterior suture, expression was maintained until the mice reached 4 weeks of age. Fibroblast growth factor 2 (FGF2)-bead application to the mouse fetal skull by ex-utero surgery accelerated osteoblast differentiation, but inhibited mineralization with a downregulation of tenascin-W expression. These results suggest that tenascin-W is involved in osteoblast maturation (i.e. mineralization).
ABSTRACT We report the case of a boy with a de novo partial monosomy 16p13-pter and partial trisomy 16q22-qter detected by fluorescence in situ hybridization using subtelomeric probes for 16p and 16q. The boy had facial characteristics, skeletal features, congenital heart defects, an imperforate anus, urogenital malformations, pre/postnatal growth retardation, and psychomotor retardation, most of which have been reported both in partial monosomy 16p and partial trisomy 16q. In addition, he suffered from upper airway stenosis due to possible laryngeal stenosis with subglottic webs. The upper airway stenosis could be a rare complication of partial monosomy 16p or partial trisomy 16q, or a nonspecific malformation resulting from chromosomal abnormalities.
ABSTRACT The triad of glossoptosis, micrognathia, and cleft palate characterizes the Pierre Robin sequence (PRS). Complications can be severe and the clinical manifestations are very heterogeneous, but airway obstruction is almost present and may be life threatening. To avoid tracheostomy or allow for early decannulation in severely affected children, external or biorebsorbable internal distraction devices can be applied to repair mandibular deficiences. We report a case of a children submitted to bilateral mandibular distraction with external nonresorbable devices. After optimal lengthening of mandibles, laringotracheoplasty was performed to close the tracheostomy with improvement of respiratory pattern and quality of life this child. Biorebsorbable internal distraction devices offers some advantages, but complications include device failure to support resistance. Distraction osteogenesis has become a safe, less-invasive procedure with a negligible risk of infection making it effective to substitute tracheostomy as first choice in treatment of patients with Pierre Robin Sequence and life threatening airway obstruction.
ABSTRACT To date, no systematic review of gastrointestinal anomalies associated with anorectal malformations has been performed. We report the management of three challenging cases of neonates affected by congenital gastrointestinal and anorectal malformations and we review the pertinent published reports to disclose the incidence and outcome of this combination. In 3951 anorectal malformations, the incidence of digestive tract anomalies was approximately 15%. The association of multiple congenital gastrointestinal defects strongly increased the case complexity and worsened the outcome. Based on our study, the application of a rational and staged management plan provides easier diagnosis and treatment of complex cases. Moreover, keeping in mind the likely co-occurrence of anorectal and gastrointestinal anomalies could help avoid misdiagnosis and prevent life-threatening complications. Finally, the knowledge of this association and its successful management can help the multi-specialist team to become more confident in counselling, diagnosis and treatment.