Fetal Diagnosis in a Unique Case of Vascular and Cardiac Interdependence in Omphaloischiopagus Conjoined Twins.
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SUBMITTER: Gaitonde M
PROVIDER: S-EPMC8236376 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BACKGROUND:Conjoined twin is a rarely seen congenital anomaly associated with significant morbidity and mortality. The most common types of conjoined twins are thoracopagus. Conjoined twins are either symmetrical twins or asymmetrical or heteropagus. This report records the successful separation of 2 cases of asymmetrical twins and one symmetrical twin with fused livers and diaphragm and communicating peritoneal cavities. PATIENTS AND METHODS:This study amended and strictly followed the ethical guidelines of the Helsinki declaration, our study included 4 case reports on conjoined twins (CT), 2 male and three female patients; 3 of them were parasitic and one was conjoined. We operated upon 2 parasitics and one conjoined. The 1st case died preoperatively. RESULTS:Four living children is our result. CONCLUSION:As connections between the bowel and bone of the parasite and the respective organs in the autosite are often absent, the parasite could be excised easily without any effect on the autosite. We recommend the separation of the parasite and the autosite as early as possible. In many cases, surgery results in the death of one or both of the conjoined twins, particularly if they are joined at the head or share a vital organ. Our separated twins are yet the youngest living separated twins. TRIAL REGISTRATION:ClinicalTrials.gov Identifier: NCT03388684.
| S-EPMC7388169 | biostudies-literature
Project description:Introduction This report will discuss a case of minimally conjoined omphalopagus twins (MCOTs) with a body stalk anomaly (BSA). Case Report We experienced monochorionic diamniotic (MD) twins born at 31 weeks. One infant was suspicious of BSA before birth, and another infant was normal. But normal infant had anal atresia with small intestine which was inserted behind the umbilicus. Twins had very short common umbilicus and infant with BSA had intestinal conjunction, two appendixes at the site of the colon, and a blind-ending colon. We diagnosed MCOTs. Discussion On the basis of the Spencer hypothesis, the etiology of MCOTs was that MD twins shared a yolk sac. However, this could not explain the presence of a BSA. It is necessary to consider the possible reasons for a singleton BSA. In addition, intestinal fusion occurred unequally in this case, although two appendixes were found in the same place, which might have occurred because of the balanced fusion.
| S-EPMC4603844 | biostudies-other
Project description:BackgroundThe surgical separation of two Conjoined Twins is a particularly complex operation. Surgical times are particularly long and post-operative complications are very frequent in this type of procedure. We report a clinical case of surgical separation of two thoraco-omphalopagus conjoined twins in which, thanks to the use of (3D) three dimensional technologies, we were able to significantly reduce operative times and improve clinical outcomes.MethodsWe performed a 3D reconstruction of the anatomical parts involved in congenital fusion using Computer Tomography (CT) images.We obtained virtual anatomical models of the patients which allowed us to estimate essential details as the residual post-operative thoracic volume as well as the exact position of resection planes for both the general separation and for the hepatic splitting procedure. Subsequently, we printed 3D anatomical models of the thoracic cage and sternum and of the liver with the plane of resection. Finally, we printed an additional 3D anatomical model of the two patients representing different organs with multiple colors and materials.ResultsThe use of 3D printing reduced the duration of surgery by 30% with a favorable patient outcome. Two years after the operation, the patients do not present any type of deficit and have a normal life without any significant complication.ConclusionVirtual anatomical 3D models and 3D printing represent a valid technological tool to support complex surgical operations, especially in pre-surgical planning. 3D models are important tools to better understand complex anatomy and to discuss clinical cases among members of the surgical team.
| S-EPMC7691583 | biostudies-literature
Project description:Objective Describe a case of cloaca prenatally diagnosed in one of a set of monoamniotic twins. Study Design Retrospective review of a case. Results Cloaca is one of the most complex and severe degrees of anorectal malformations in girls. We present a discordant cloaca in monoamniotic twins. Fetal ultrasound showed a female fetus with a pelvic midline cystic mass, a phallus-like structure, a probable anorectal atresia with absence of anal dimple and a flat perineum, and renal anomalies. The diagnosis was confirmed by fetal magnetic resonance imaging postnatally. Conclusions The rarity of the malformation in a monoamniotic pregnancy, the difficulties of prenatal diagnosis, the pathogenic assumptions, and the consequences of adequate amniotic fluid for fetal lung development are discussed.
| S-EPMC4078163 | biostudies-other
Project description:BACKGROUND: A large number of monozygotic and dizygotic twin pairs with inflammatory bowel disease have been reported. To date no twin pair has developed phenotypically discordant inflammatory bowel disease. This case report is the first documented occurrence of discordant inflammatory bowel disease occurring in monozygotic twins. CASE REPORT: Twenty two year old identical male twins presented within three months of each other with inflammatory bowel disease that proved to be discordant in overall disease type, disease distribution, clinical course, and histopathological findings. Twin 1 developed a severe pancolitis necessitating total colectomy while twin 2 developed a predominantly distal patchy colitis with frequent granulomas, controlled by aminosalicylates. Twin 1 was antineutrophil cytoplasmic antibody (ANCA) negative at the time of testing while twin 2 (Crohn's disease) was ANCA positive. Significantly, the twins possessed the HLA type DR3-DR52-DQ2 previously associated with extensive colitis. CONCLUSION: This case report confirms the important role played by genetic factors in the development of inflammatory bowel disease. It also highlights the crucial role of undetermined environmental agents in dictating disease expression and phenotype.
| S-EPMC1891513 | biostudies-other
Project description:BackgroundDiagnosis of constrictive pericarditis requires demonstration of interventricular interdependence which can prove difficult even with invasive haemodynamics. Its treatment requires invasive surgical procedures prior to which diagnostic certainty is necessary. Cardiac magnetic resonance imaging (MRI) is an underutilized tool for identification of this pathology.Case summaryWe present two cases of heart failure due to interventricular interdependence with inconclusive invasive haemodynamic. Prior to recommending invasive surgical treatment, confirmation of the diagnosis was required. This was achieved using cardiac MRI leading to pericardiectomy followed by clinical improvement.DiscussionThese cases demonstrate the clinical utility, sensitivity, and specificity of cardiac MRI for ventricular interdependence.
| S-EPMC8286845 | biostudies-literature
Project description:PurposeDevelopment of an ad hoc protocol for the preimplantion genetic diagnosis of propionic acidemia in a couple carrying the mutations c.737G>T (G246V) and c.1218del14ins12 (ins/del) in the PCCB gene. Propionic acidemia is an autosomal recessive metabolic disorder where the body is unable to process certain parts of proteins and lipids. Symptoms manifest few days after birth and sometimes progress to more serious medical problems, including heart abnormalities, coma and death.MethodsFour short tandem repeat markers closely linked to the PCCB gene were tested, in order to support the direct mutation detection diagnosis. Multiplex fluorescent heminested polymerase chain reaction followed by fragment analysis and minisequencing was used.ResultsFourteen single blastomeres from nine embryos were tested and two carrier embryos were transferred, resulting in the birth of two healthy boys.ConclusionsPreimplantation genetic diagnosis represents a valid reproductive option for couples affected of propionic acidemia, in order to avoid transmission to offspring.
| S-EPMC3082661 | biostudies-literature
Project description:Conjoined twins (CT) are a very rare developmental accident of uncertain etiology. Prevalence has been previously estimated to be 1 in 50,000 to 1 in 100,000 births. The process by which monozygotic twins do not fully separate but form CT is not well understood. The purpose of the present study was to analyze diverse epidemiological aspects of CT, including the different variables listed in the Introduction Section of this issue of the Journal. The study was made possible using the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) structure. This multicenter worldwide research includes the largest sample of CT ever studied. A total of 383 carefully reviewed sets of CT obtained from 26,138,837 births reported by 21 Clearinghouse Surveillance Programs (SP) were included in the analysis. Total prevalence was 1.47 per 100,000 births (95% CI: 1.32-1.62). Salient findings including an evident variation in prevalence among SPs: a marked variation in the type of pregnancy outcome, a similarity in the proportion of CT types among programs: a significant female predominance in CT: particularly of the thoracopagus type and a significant male predominance in parapagus and parasitic types: significant differences in prevalence by ethnicity and an apparent increasing prevalence trend in South American countries. No genetic, environmental or demographic significant associated factors were identified. Further work in epidemiology and molecular research is necessary to understand the etiology and pathogenesis involved in the development of this fascinating phenomenon of nature.
| S-EPMC4457318 | biostudies-literature
Project description:BackgroundFetal unilateral lung agenesis, complicated with cardiac shifting, is a rare anomaly, the diagnosis of which remains a challenge for many sonographers in routine screening programs. The present study describes a systematic approach for the diagnosis of fetal unilateral lung agenesis and cardiac malpositions in routine prenatal screening.MethodsA total of 18 cases of fetal unilateral lung agenesis complicated with cardiac malposition were reviewed. A systematic method was proposed to identify the fetal left side and right side according to the fetal head position and posture by acquiring a long axis and transverse view of the fetus. Fetal unilateral lung agenesis was diagnosed by evaluation of the ipsilateral pulmonary artery. The diagnosis was confirmed by postnatal echocardiography, digital radiology, and computed tomography after birth or by autopsy findings.ResultsThe left-sided fetal heart with the cardiac apex rotating to the left and posterior were confirmed in all 7 left lung agenesis cases, while the rightward shifting of the fetal heart together with the cardiac axis deviating to the right were confirmed in all 11 cases of right lung agenesis. The disappearance of the ipsilateral pulmonary artery was confirmed in all 18 cases of unilateral lung agenesis. Cardiac anomalies were present in a total of 7 of the 18 cases of lung agenesis with 4 of 7 in cases of left lung agenesis and 3 of 11 in cases of right agenesis.ConclusionsThe systematic approach introduced in the current report is helpful in the diagnosis of fetal unilateral lung agenesis complicated with cardiac malposition. The information provided by this study may be helpful to better understand unilateral lung agenesis anatomically and to facilitate its potential examination.
| S-EPMC3617058 | biostudies-literature
Project description:Peters' plus syndrome is a rare but clinically recognizable autosomal recessive ocular genetic syndrome. Diagnosis during the fetal life is challenging due to the presence of nonspecific findings such as ventriculomegaly in the growth-retarded fetuses. We report the first case of fetal Peters' plus syndrome from India, where fetal ultrasound and the family history were helpful in providing a clue to the diagnosis that was confirmed later on by the DNA analysis.
| S-EPMC3745879 | biostudies-literature