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Colombia Medica (Cali, Colombia) 2021gastroschisis is a congenital structural defect of the abdominal wall, most often to the right of the umbilicus, through which the abdominal viscera protrude. Its... (Review)
Review
gastroschisis is a congenital structural defect of the abdominal wall, most often to the right of the umbilicus, through which the abdominal viscera protrude. Its developmental, etiological and epidemiological aspects have been a hot topic of controversy for a long time. However, recent findings suggest the involving of genetic and chromosomal alterations and the existence of a stress-inducing pathogenetic pathway, in which risk factors such as demographic and environmental ones can converge. To expand the frontier of knowledge about a malformation that has showed a growing global prevalence, we have conducted a review of the medical literature that gathers information on the embryonic development of the ventral body wall, the primitive intestine, and the ring-umbilical cord complex, as well as on the theories about its origin, pathogenesis and recent epidemiological evidence, for which we consulted bibliographic databases and standard search engines.
Topics: Abdominal Wall; Female; Gastroschisis; Humans; Pregnancy; Prevalence; Risk Factors
PubMed: 35431359
DOI: 10.25100/cm.v52i3.4227 -
Seminars in Pediatric Surgery Apr 2019Pentalogy of Cantrell is a constellation of five congenital defects that pose a unique challenge for surgeons. Defects of the heart, pericardium, diaphragm, sternum, and... (Review)
Review
Pentalogy of Cantrell is a constellation of five congenital defects that pose a unique challenge for surgeons. Defects of the heart, pericardium, diaphragm, sternum, and anterior abdominal wall are pathognomonic. Although the incidence is low, it is critical to identify it in a timely fashion in order to adequately address all aspects. Early diagnosis, supportive care, and strategic surgical planning with a multidisciplinary team are all key components in managing patients with Pentalogy of Cantrell. In this text we sought to explore the evolution of both the understanding and treatment for this complex entity and provide current recommendations to today's pediatric caregivers.
Topics: Combined Modality Therapy; Female; Humans; Infant, Newborn; Pentalogy of Cantrell; Pregnancy; Prenatal Diagnosis; Treatment Outcome
PubMed: 31072457
DOI: 10.1053/j.sempedsurg.2019.04.006 -
Hong Kong Medical Journal = Xianggang... Oct 2013We report on a preterm male newborn with complete ectopia cordis associated with Cantrell's syndrome. The neonate had an ectopia cordis involving defects of the lower...
We report on a preterm male newborn with complete ectopia cordis associated with Cantrell's syndrome. The neonate had an ectopia cordis involving defects of the lower sternum, supraumbilical abdominal wall, anterior portion of the diaphragm, and diaphragmatic portion of the pericardium associated with complex congenital heart defects. The infant died shortly after birth. We discuss this case and review the literature.
Topics: Abnormalities, Multiple; Ectopia Cordis; Fatal Outcome; Female; Humans; Infant, Newborn; Male; Pentalogy of Cantrell; Pregnancy; Young Adult
PubMed: 24088589
DOI: 10.12809/hkmj133737 -
Ultrasound in Obstetrics & Gynecology :... Oct 2019To examine the performance of the routine 11-13-week scan in detecting fetal non-chromosomal abnormalities.
OBJECTIVE
To examine the performance of the routine 11-13-week scan in detecting fetal non-chromosomal abnormalities.
METHODS
This was a retrospective study of prospectively collected data from 100 997 singleton pregnancies attending for a routine ultrasound examination of fetal anatomy, performed according to a standardized protocol, at 11-13 weeks' gestation. All continuing pregnancies had an additional scan at 18-24 weeks and 71 754 had a scan at either 30-34 or 35-37 weeks. The final diagnosis of fetal abnormality was based on the results of postnatal examination in cases of live birth and on the findings of the last ultrasound examination in cases of pregnancy termination, miscarriage or stillbirth. The performance of the 11-13-week scan in the detection of fetal abnormalities was determined.
RESULTS
The study population contained 1720 (1.7%) pregnancies with a fetal abnormality, including 474 (27.6%) detected on the first-trimester scan, 926 (53.8%) detected on the second-trimester scan and 320 (18.6%) detected in the third trimester or postnatally. At 11-13 weeks' gestation, we diagnosed all cases of acrania, alobar holoprosencephaly, encephalocele, tricuspid or pulmonary atresia, pentalogy of Cantrell, ectopia cordis, exomphalos, gastroschisis and body-stalk anomaly and > 50% of cases of open spina bifida, hypoplastic left heart syndrome, atrioventricular septal defect, complex heart defect, left atrial isomerism (interrupted inferior vena cava with normal intracardiac anatomy), lower urinary tract obstruction, absence of extremities, fetal akinesia deformation sequence and lethal skeletal dysplasia. Common abnormalities that were detected in < 10% of cases at 11-13 weeks included ventriculomegaly, agenesis of the corpus callosum, isolated cleft lip, congenital pulmonary airway malformation, ventricular septal defect, abdominal cysts, unilateral renal agenesis or multicystic kidney, hydronephrosis, duplex kidney, hypospadias and talipes.
CONCLUSIONS
A routine 11-13-week scan, carried out according to a standardized protocol, can identify many severe non-chromosomal fetal abnormalities. A summary statistic of the performance of the first-trimester scan is futile because some abnormalities are always detectable, whereas others are either non-detectable or sometimes detectable. To maximize prenatal detection of abnormalities, additional scans in both the second and third trimesters are necessary. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Adult; Congenital Abnormalities; Female; Fetus; Gestational Age; Humans; Nuchal Translucency Measurement; Pregnancy; Pregnancy Trimester, First; Pregnancy Trimester, Second; Pregnancy Trimester, Third; Prenatal Care; Retrospective Studies; Ultrasonography, Prenatal
PubMed: 31408229
DOI: 10.1002/uog.20844 -
Journal of Clinical Neonatology Jul 2012Ectopia cordis is a rare congenital anomaly. Congenital anomaly scan can detect it at 18-23 weeks of gestation. Four chamber view of the heart in routine fetal anomaly...
Ectopia cordis is a rare congenital anomaly. Congenital anomaly scan can detect it at 18-23 weeks of gestation. Four chamber view of the heart in routine fetal anomaly scans at >18 weeks is the most effective technique to detect CHD prenatally.
PubMed: 24027719
DOI: 10.4103/2249-4847.101708 -
Heart (British Cardiac Society) Oct 2023The eye is prone to various forms of afflictions, either as a manifestation of primary ocular disease or part of systemic disease, including the cardiovascular system. A... (Review)
Review
The eye is prone to various forms of afflictions, either as a manifestation of primary ocular disease or part of systemic disease, including the cardiovascular system. A thorough cardiovascular examination should include a brief ocular assessment. Hypertension and diabetes, for example, would present with retinopathy and dyslipidaemia would present with corneal arcus. Multisystem autoimmune diseases, such as Graves' disease, rheumatoid arthritis and sarcoidosis, would present with proptosis, episcleritis and scleritis, respectively. Myasthenia gravis, while primarily a neuromuscular disease, presents with fatigable ptosis and is associated with Takotsubo cardiomyopathy and giant cell myocarditis. Connective tissue diseases such as Marfan syndrome, which commonly presents with aortic root dilatation, would be associated with ectopia lentis and myopia. Wilson's disease, which is associated with arrhythmias and cardiomyopathies, would present usually with the characteristic Kayser-Fleischer rings. Rarer diseases, such as Fabry disease, would be accompanied by ocular signs such as cornea verticillata and such cardiac manifestations include cardiac hypertrophy as well as arrhythmias. This review examines the interplay between the eye and the cardiovascular system and emphasises the use of conventional and emerging tools to improve diagnosis, management and prognostication of patients.
Topics: Humans; Hepatolenticular Degeneration; Marfan Syndrome; Cardiovascular System; Heart; Copper
PubMed: 37507215
DOI: 10.1136/heartjnl-2022-322081 -
The Journal of Maternal-fetal &... Dec 2023This study aimed to analyze prenatal diagnosis, perinatal outcomes, and postnatal follow-up in fetuses with ectopia cordis (EC).
OBJECTIVE
This study aimed to analyze prenatal diagnosis, perinatal outcomes, and postnatal follow-up in fetuses with ectopia cordis (EC).
METHODS
This retrospective analysis accessed 31 patients with EC who were either diagnosed or referred to a tertiary Fetal Medicine centers for EC diagnosis in Brazil, Germany, Italy, and Poland. We analyzed prenatal diagnosis, perinatal outcomes, and follow-up in these patients.
RESULTS
Our study included a cohort of 31 fetuses with EC, 4 and 27 of whom had partial and complete protrusion of the heart through a ventral defect in the thoracoabdominal wall, respectively. EC was diagnosed by fetal echocardiography at a mean gestational age of 20.3 ± 8.6 weeks (range, 8-35 weeks). Of the four cases, in which the karyotype was performed, all of them had a normal result (1 - 46,XX and 3 - 46,XY). Five patients showed conotruncal abnormalities and six ventricular septal defects. Termination of pregnancy (TOP) was performed in 15 cases (48%) and seven pregnant women had spontaneous fetal demise (22.5%). Of the seven fetuses that were born alive, four of them died, and three infants underwent surgery. Among these three infants, all of them survived, one was 5 months, 13 years old and 29 years old at the time of study completion.
CONCLUSIONS
Ectopia cordis is associated with high mortality rates and intracardiac/extra-cardiac defects. Ventricular septal defects and conotruncal anomalies were the more common intracardiac defects associated with EC. However, in this cohort of fetuses with EC the incidence of PC was lower than reported in the literature.
Topics: Infant; Humans; Pregnancy; Female; Adolescent; Ectopia Cordis; Retrospective Studies; Follow-Up Studies; Ultrasonography, Prenatal; Prenatal Diagnosis; Heart Defects, Congenital; Heart Septal Defects, Ventricular
PubMed: 37080921
DOI: 10.1080/14767058.2023.2203791