1/29. Prenatal sonographic features of embryonal rhabdomyosarcoma.We describe a case of fetal rhabdomyosarcoma detected during the third trimester of pregnancy by prenatal sonography. At 33 weeks' gestation, sonography performed because of suspected polyhydramnios showed a solid mass of 120 x 54 mm arising from the anterior wall of the fetal thoracic cage. Another mass within the left maxillary area which originated from the left orbital floor was also detected. In the abdomen, there were multiple round masses in and around the liver. As the previous scan at 28 weeks had appeared normal, the multiple masses which became visible and enlarged rapidly in different locations led us to believe that there was fetal cancer. The most likely diagnosis was rhabdomyosarcoma (which was later confirmed), because it is the most prevalent soft-tissue tumor in children and may develop within or outside muscle anywhere in the body and at any age. Two other reported cases which were detected by prenatal ultrasound examination are also discussed.- - - - - - - - - - ranking = 1keywords = embryo (Clic here for more details about this article) |
2/29. Maternal uniparental isodisomy for chromosome 14 detected prenatally.Maternal uniparental disomy (UPD) for chromosome 14 (upd(14)mat) has been associated with a distinct phenotype. We describe the first case of maternal uniparental isodisomy for chromosome 14 detected prenatally, in a pregnancy with mosaicism for trisomy 14 observed in both a chorionic villus sample (CVS) and in amniocytes. Detailed analysis of polymorphic microsatellites showed that the fetus was essentially isodisomic for one of the mother's chromosomes 14 and that recombination had introduced a mid-long arm region of heterodisomy. The fetus, which died in utero at 18 weeks, showed no apparent pathological features. The case demonstrates for the first time a maternal meiosis II non-disjunction of chromosome 14 leading to a trisomic conception which has been incompletely corrected by 'rescue' in the early embryo.- - - - - - - - - - ranking = 0.25keywords = embryo (Clic here for more details about this article) |
3/29. Fetal brain infection with human parvovirus B19.Intrauterine parvovirus B19 infection is known to be one of the causes of hydrops fetalis. However, there are few reports of the pathologic changes in the central nervous system. Postmortem examination of a fetus revealed multinucleated giant cells of macrophage/microglia lineage and many small calcifications around the vessels, predominantly in the cerebral white matter. parvovirus B19 genome dna was detected in the nucleus of the multinucleated giant cells and solitary endothelial cells by polymerase chain reaction amplification and in situ polymerase chain reaction methods. capsid antigen was also demonstrated in the cytoplasm of the endothelial cells by immunofluorescent assay. Thus, intrauterine B19 parvovirus infection could be associated with marked neuropathologic changes in the fetal brain at the midembryonal period. Neurologic follow-up of complications may be necessary for children who survive the intrauterine infection.- - - - - - - - - - ranking = 0.25keywords = embryo (Clic here for more details about this article) |
4/29. Mermaid and Potter's syndrome occurring simultaneously.We herein report a case of a female embryo who died in utero and at autopsy she was found to have bilateral renal agenesis with the extrarenal manifestations of Potter's syndrome together with mermaid syndrome which is a rare combination. From all the anomalies of the upper urinary tract bilateral renal agenesis seems to have a cardinal role in the survival of the embryo afflicted with the spectrum of associated anomalies.- - - - - - - - - - ranking = 0.5keywords = embryo (Clic here for more details about this article) |
5/29. central nervous system in twin reversed arterial perfusion sequence with special reference to examination of the brain in acardius anceps.The twin-reversed arterial perfusion (TRAP) sequence, or acardia, is the most severe complication in monozygotic twinning. Although more than 400 cases with TRAP sequence were reported since 1533, thorough investigations of the brain in those cases with a rudimentary head remained infrequent. We report a TRAP sequence with microcephaly and a severely rudimentary brain anlage. Neuropathologic examination clearly demonstrated two types of change: (1) developmental arrest of brain at the prosencephalic stage (holoprosencephaly), and (2) hypoxic damage to the holospheric brain mantle with cystic change (hydranencephaly). With reference to previous studies in experimental animals showing that lack of oxygen during early embryogenesis can induce severe disruptions of head-brain and heart formation, it is concluded that oxygen deficiency due to TRAP may be responsible not only for the encephaloclastic changes in the acardius anceps, but for the developmental arrest of the brain cases as well. This would make it unnecessary to postulate additional primary causes such as asymmetric zygote cleavage (Schwalbe, '07) for the maldevelopment.- - - - - - - - - - ranking = 0.25keywords = embryo (Clic here for more details about this article) |
6/29. Thoracoschisis associated with diaphragmatic hernia in a 31-week-old stillbirth.Thoracoschisis is a very rare congenital anomaly and is frequently found with other congenital defects the of limbs and the abdominal wall as a part of limb-body wall complex (LBWC). Early vascular disruption, amnion rupture and intrinsic embryonic maldevelopment are related to the pathogenesis of this complex. We present a case of thoracoschisis with ipsilateral diaphragmatic hernia. This case had none of the associated anomalies which are seen in LBWC. By ultrasonography performed at 31 weeks' gestation the fetus was misdiagnosed as gastroschisis. In this report we discuss the pathogenetic mechanism of LBWC and our case.- - - - - - - - - - ranking = 0.25keywords = embryo (Clic here for more details about this article) |
7/29. Parental origin of the two additional haploid sets of chromosomes in an embryo with tetraploidy.We report on the molecular investigations performed on an embryo with tetraploidy, karyotype 92,XXXY. The embryo was spontaneously aborted after eight weeks of gestation. Molecular analyses were performed in order to determine the parental origin and mode of formation of the two additional haploid sets of chromosomes. Microsatellite markers mapping to pericentromeric chromosome regions were used. Our results show a maternal origin of one additional set of chromosomes most likely due to the incorporation of the polar body of meiosis I and a paternal origin of the second additional set of chromosomes most likely due to dispermy. The karyotype 92,XXXY is rather unusual, indeed the vast majority of cases with tetraploidy have the karyotypes 92,XXXX or 92,XXYY. To the best of our knowledge this is the first case with 92,XXXY for which molecular investigations have been performed.- - - - - - - - - - ranking = 1.5keywords = embryo (Clic here for more details about this article) |
8/29. Transcervical fetoscopic diagnosis of structural defects in four first-trimester monochorionic twin intrauterine deaths.OBJECTIVE: While chromosomal abnormalities are often the cause of early failed pregnancies, other mechanisms could be involved in monochorionic twin intrauterine deaths, that might be screened for careful morphological analysis. methods: Transcervical fetoscopy prior to instrumental evacuation of the uterus was performed in four first-trimester monochorionic twin intrauterine deaths. RESULTS: We present fetoscopic and cytogenetic findings in four cases of monochorionic twin intrauterine deaths. In the first, generalized abnormal embryonic development observed in both twins was a manifestation of trisomy 20. The second (thoracophagus) and third (acardius) pair of twins had anomalies peculiar to multiple gestations. The fourth pair of twins was remarkable because of the concordance for the observed limb-reduction defects. CONCLUSION: Malformations of first-trimester monochorionic twin intrauterine deaths might cover a wide spectrum of etiologies from abnormal chromosomes and single gene defects to rare duplication anomalies. Their detection by careful morphological analysis and the identification of a specific mechanism provides valuable information for genetic counseling and prenatal investigation in a future pregnancy.- - - - - - - - - - ranking = 0.25keywords = embryo (Clic here for more details about this article) |
9/29. Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.We have identified six children in three families with subtelomeric deletions of 6p25 and a recognizable phenotype consisting of ptosis, posterior embryotoxon, optic nerve abnormalities, mild glaucoma, Dandy-Walker malformation, hydrocephalus, atrial septal defect, patent ductus arteriosus, and mild mental retardation. There is considerable clinical overlap between these children and individuals with the Ritscher-Schinzel (or cranio-cerebello-cardiac (3C)) syndrome (OMIM #220210). Clinical features of 3C syndrome include craniofacial anomalies (macrocephaly, prominent forehead and occiput, foramina parietalia, hypertelorism, down-slanting palpebral fissures, ocular colobomas, depressed nasal bridge, narrow or cleft palate, and low-set ears), cerebellar malformations (variable manifestations of a Dandy-Walker malformation with moderate mental retardation), and cardiac defects (primarily septal defects). Since the original report, over 25 patients with 3C syndrome have been reported. Recessive inheritance has been postulated based on recurrence in siblings born to unaffected parents and parental consanguinity in two familial cases. Molecular and cytogenetic mapping of the 6p deletions in these three families with subtelomeric deletions of chromosome 6p have defined a 1.3 Mb minimally deleted critical region. To determine if 6p deletions are common in 3C syndrome, we analyzed seven unrelated individuals with 3C syndrome for deletions of this region. Three forkhead genes (FOXF1 and FOXQ1 from within the critical region, and FOXC1 proximal to this region) were evaluated as potential candidate disease genes for this disorder. No deletions or disease-causing mutations were identified.- - - - - - - - - - ranking = 0.25keywords = embryo (Clic here for more details about this article) |
10/29. First trimester diagnosis of partial mole.BACKGROUND: Partial mole is one of the two distinctive subtypes of hydatidiform mole. It is usually paternally derived triploid conceptions in which embryonal development occurs in association with trophoblastic hyperplasia. The definite diagnosis is confirmed by pathological and cytogenetic studies. Ultrasound might be helpful to diagnose partial mole in the first trimester. CASE: A 25-year-old woman, gravida 2, para 0-0-1-0, was initially seen for antenatal care at 6 weeks' pregnant. Ultrasound was undertaken at 13 weeks' pregnancy due to her first fetal anomaly, which demonstrated partial mole and embryonic death. The serum beta hCG was 190,900 mIU/ml. suction curettage was performed without complication. Histopathological study confirmed partial mole and cytogenetic study of the placenta revealed an uncommon karyotype, mosaicism of triploid (69,XXX/69,XXY). serum beta hCG was declined and negative at 8 weeks. The patient was well and serum beta hCG remained normal throughout 6 months of follow-up. CONCLUSION: Although the majority of partial mole pregnancies cannot be detected by routine first trimester ultrasound examination, first trimester ultrasound can be helpful in some cases, such as this one. If partial mole is sonographically suspected, it should be confirmed with histopathology and cytogenetic studies. The management is similar to complete mole including prompt evacuation and careful monitoring of beta hCG.- - - - - - - - - - ranking = 0.5keywords = embryo (Clic here for more details about this article) |
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