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1.
Am J Med Genet A ; 194(7): e63582, 2024 07.
Artículo en Inglés | MEDLINE | ID: mdl-38450833

RESUMEN

We present three new and six published infants with overlapping features of LUMBAR syndrome (lower body hemangioma, urogenital anomalies, spinal cord malformations, bony deformities, anorectal/arterial anomalies and renal anomalies) and OEIS complex (omphalocele, exstrophy, imperforate anus, and spinal defects), also known as cloacal exstrophy. OEIS is included under the recently proposed umbrella coined recurrent constellations of embryonic malformations (RCEMs). The RCEMs represent a phenotypically overlapping spectrum of rare disorders of caudal dysgenesis with unknown cause but likely shared pathogenesis. It has recently been proposed that LUMBAR be considered an RCEM. This report of infants with combined features of OEIS and LUMBAR is the first to demonstrate an overlap between LUMBAR and another RCEM, which supports LUMBAR's inclusion within the RCEM spectrum.


Asunto(s)
Anomalías Múltiples , Ano Imperforado , Humanos , Ano Imperforado/genética , Ano Imperforado/patología , Ano Imperforado/diagnóstico , Anomalías Múltiples/genética , Anomalías Múltiples/patología , Anomalías Múltiples/diagnóstico , Femenino , Masculino , Recién Nacido , Anomalías Urogenitales/genética , Anomalías Urogenitales/diagnóstico , Anomalías Urogenitales/patología , Hernia Umbilical/diagnóstico , Hernia Umbilical/patología , Lactante , Síndrome , Cloaca/anomalías , Cloaca/patología , Hemangioma/patología , Hemangioma/diagnóstico , Hemangioma/genética , Fenotipo , Columna Vertebral/anomalías , Columna Vertebral/patología , Columna Vertebral/diagnóstico por imagen , Escoliosis
2.
Laeknabladid ; 110(3): 144-150, 2024.
Artículo en Is | MEDLINE | ID: mdl-38420959

RESUMEN

INTRODUCTION: Gastroschisis and omphalocele are the most common congenital abdominal wall defects. The main purpose of this study was to investigate the incidence, other associated anomalies and the course of these diseases in Iceland. MATERIAL AND METHODS: The study was retrospective. The population was all newborns who were admitted to the NICU of Children's Hospital Iceland due to gastroschisis or omphalocele in 1991-2020. Furthermore, all fetuses diagnosed prenatally or post mortem where the pregnancy ended in spontaneous or induced abortion, were included. RESULTS: During the study period, 54 infants were born with gastroschisis and five with omphalocele. The incidence of gastroschisis was 4.11 and omphalocele 0,38/10,000 births. There was no significant change in the incidence of the diseases during the study period. In addition, five fetuses were diagnosed with gastroschisis and 31 with omphalocele where the pregnancy was terminated. In addition to gastroschisis in the live born infants and fetuses the most common associated anomalies were in the gastrointestinal or urinary tract but in infants and fetuses with omphalocele anomalies of the cardiac, central nervous or skeletal systems were the most common. Sixteen fetuses diagnosed with omphalocele had trisomy 18. Mothers aged 16-20 were more likely to give birth to an infant with gastroschisis than older mothers (p< 0.001). Primary closure was successful in 86% of the infants. Those reached full feedings significantly earlier and were discharged earlier. Overall survival rate was 95%. Three children were still receiving parenteral nutrition at discharge due to short bowel syndrome. CONCLUSIONS: The incidence of gastroschisis in Iceland is in accordance with studies in other countries but but the incidence of omphalocele is lower, which can be partly explained by spontaneous or induced abortions. Other anomalies associated with omphalocele are more severe than those associated with gastroschisis. Primary closure was associated with more benign course. Children with gastroschisis may need prolonged parenteral nutrition due to shortening of their intestines.


Asunto(s)
Gastrosquisis , Hernia Umbilical , Embarazo , Lactante , Femenino , Niño , Recién Nacido , Humanos , Gastrosquisis/diagnóstico , Gastrosquisis/epidemiología , Gastrosquisis/genética , Hernia Umbilical/diagnóstico , Hernia Umbilical/epidemiología , Hernia Umbilical/genética , Estudios Retrospectivos , Incidencia , Diagnóstico Prenatal
3.
BMC Med Educ ; 23(1): 966, 2023 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-38102605

RESUMEN

BACKGROUND: Congenital Anomalies were responsible for 303,000 deaths in the neonatal period, according to the WHO, they are among the world's top 20 causes of morbidity and mortality. Expensive simulators demonstrate several diseases, but few are related to congenital anomalies. This study aims to develop, validate, and evaluate low-cost simulator models (WALL-GO) of the most common abdominal wall defects, gastroschisis, and omphalocele, to enable diagnosis through an accessible tool with study value and amenable to replication. METHODS: Market research was conducted to find materials to build low-cost models. The researchers built the model and underwent validation assessment of the selected experts who scored five or more in the adapted Fehring criteria. The experts were assessed through a 5-point Likert scale to 7 statements (S1-7). Statements were assigned values according to relevance in face and transfer validities. Concomitantly, the model was also evaluated by students from 1st to 5th year with the same instruments. Content Validity Indexes (CVIs) were considered validated between groups with concordance greater than 90%. Text feedback was also collected. Each statement was subjected to Fisher's Exact Test. RESULTS: Gastroschisis and omphalocele model costs were US $15 and US $27, respectively. In total, there were 105 simulator evaluators. 15 experts were selected. Of the 90 students, there were 16 (1st year), 22 (2nd), 16 (3rd), 22 (4th), and 14 (5th). Students and experts obtained CVI = 96.4% and 94.6%, respectively. The CVIs of each statement were not significantly different between groups (p < 0,05). CONCLUSIONS: The WALL-GO models are suitable for use and replicable at a manufacturable low cost. Mannequins with abdominal wall defects are helpful in learning to diagnose and can be applied in teaching and training health professionals in developing and low-income countries.


Asunto(s)
Pared Abdominal , Educación de Pregrado en Medicina , Gastrosquisis , Hernia Umbilical , Recién Nacido , Humanos , Gastrosquisis/diagnóstico , Hernia Umbilical/cirugía , Hernia Umbilical/diagnóstico , Aprendizaje
4.
J Clin Ultrasound ; 51(4): 644-651, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-36972256

RESUMEN

Color Doppler (CD) is an established diagnostic modality for bladder exstrophy. We present two mid-trimester difficult-to-diagnose cases with no obvious infraumbilical mass bulge, assessed by CD in sagittal and axial pelvic views. The first case was a classical bladder exstrophy at 19 weeks nestled under the umbilical-cord and the second case was an omphalocele-exstrophy-imperforate-anus-spinal complex at 18 weeks 4 days gestation with exstrophic bladder embedded under the omphalocele. The altered course of umbilical arteries in relation to pelvic bony landmarks seen in these fetuses could be an objective approach to complement mid-trimester diagnosis of bladder exstrophy regardless of mass bulge.


Asunto(s)
Anomalías Múltiples , Extrofia de la Vejiga , Hernia Umbilical , Embarazo , Femenino , Humanos , Extrofia de la Vejiga/diagnóstico por imagen , Arterias Umbilicales/diagnóstico por imagen , Hernia Umbilical/diagnóstico , Anomalías Múltiples/diagnóstico , Ultrasonografía Prenatal , Pelvis
5.
Fetal Pediatr Pathol ; 42(4): 719-721, 2023 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-37071768

RESUMEN

Background: Intra-amniotic umbilical vein varices are characterized by a focal dilatation of the extra abdominal umbilical vein. Case report: We report a full-term baby female with extra-abdominal umbilical vein varices misdiagnosed clinically as an omphalocele. The umbilical vein was ligated and excised near the level of the liver. The infant died one day after surgery due to extrinsic compression of the renal pedicle by a massive thrombus, resulting in severe renal failure and life-threatening hyperkalemia despite intensive resuscitation. Conclusion: Large intra-amniotic umbilical vein varices can be clinically misdiagnosed as an omphalocele. Their resection near the level of the fascia, as with normal umbilical veins, could be a better management with a better prognosis.


Asunto(s)
Hernia Umbilical , Várices , Embarazo , Humanos , Femenino , Venas Umbilicales , Hernia Umbilical/diagnóstico , Ultrasonografía Prenatal , Várices/diagnóstico , Errores Diagnósticos
6.
Pediatr Dev Pathol ; 25(4): 474-478, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35344403

RESUMEN

The umbilicus is the site of a number of well-recognized and unusual abnormalities. Well-known neonatal umbilical abnormalities include umbilical hernias, granulomas/polyps, and congenital remnants of development. In this article, we describe a rare case of an appendix draining through the umbilicus of a neonate. In the literature, there are only 15 cases with possible umbilical appendix. We describe this rare case along with a review of the literature and discuss the underlying pathophysiology.


Asunto(s)
Apéndice , Hernia Umbilical , Pólipos , Conducto Vitelino , Apéndice/patología , Hernia Umbilical/diagnóstico , Hernia Umbilical/patología , Humanos , Recién Nacido , Pólipos/patología , Ombligo/anomalías , Ombligo/patología , Conducto Vitelino/patología
7.
BMC Pediatr ; 22(1): 680, 2022 11 26.
Artículo en Inglés | MEDLINE | ID: mdl-36435753

RESUMEN

BACKGROUND: Omphalocele is a congenital abdominal wall defect of the umbilical cord insertion site. A giant omphalocele, with a fascial defect > 5 cm in diameter and/or containing > 50% of the liver within the hernia sac, can be challenging for pediatric surgeons. Recently, negative pressure wound therapy has been reported as an effective management for giant omphaloceles; however, it is not recommended for an infected wound with necrotic tissue as it may exacerbate infection. We adopted negative pressure wound therapy with irrigation and dwell time (NPWTi-d) for a case of a ruptured giant omphalocele. Artificial membranes, followed by artificial dermis, were used to promote fibrous capsule formation, and then NPWTi-d was used to promote granulation while controlling infection. However, studies have not been conducted regarding NPWTi-d for ruptured giant omphaloceles; hence, we present our treatment experience with NPWTi-d for a giant omphalocele. CASE PRESENTATION: The patient was a boy born at 38 weeks and 3 days of gestation, weighing 1896 g. He was diagnosed with a ruptured giant omphalocele with a total liver and intestine defect hole of 10 cm × 10 cm. The patient underwent silo placement using an artificial mesh, followed by plicating the artificial mesh at 4 days of age. The herniated viscera were gradually reduced into the abdominal cavity; however, the defect size was still large. Hence, a collagen-based artificial dermis was patched on the defect hole. After creating a fresh and smooth granulated tissue, NPWTi-d was applied at 33 days of age to promote granulation and control infection. We used the 3 M™ V.A.C.® Ulta Therapy Unit with 3 M™ VeraFlo™ therapy. NPWTi-d was stopped at 60 days of age when the granulation tissue was well formed including at the artificial dermis site. The wound was managed with prostandin ointment and appropriate debridement, resulting in complete epithelialization at 5 months of age. CONCLUSIONS: Artificial membranes followed by artificial dermis were used to promote a fibrous capsule and artificial dermis granulation, which protects against organ damage. NPWTi-d achieved better control of infection and promoted wound healing. NPWTi-d combined with artificial dermis can effectively treat ruptured giant omphaloceles.


Asunto(s)
Hernia Umbilical , Terapia de Presión Negativa para Heridas , Masculino , Niño , Humanos , Terapia de Presión Negativa para Heridas/métodos , Hernia Umbilical/complicaciones , Hernia Umbilical/terapia , Hernia Umbilical/diagnóstico , Cicatrización de Heridas , Membranas Artificiales , Dermis
8.
Pediatr Surg Int ; 38(7): 963-983, 2022 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-35567628

RESUMEN

PURPOSE: Heteropagus twinning (HT) is a rare anomaly. Six new cases along with a systematic review are described. METHODS: Six cases of HT managed at two tertiary care teaching hospitals over the last 26 years are described. A PubMed search with words: Heteropagus AND/ OR parasitic twins from 2001 to 2021 hit 183 articles. 36 were added from non-PubMed sources. Finally, 120 cases including 114 from 69 articles and 6 new cases were analysed. RESULTS: Of the new cases, 2/6 had an antenatal diagnosis. Five were males. 4 autosites had omphaloceles. Split notochord and 2 parasites attached to a single autosite were encountered. 5/6 autosites survived. On systematic review, the most frequent variant seen was rachipagus (n = 50) followed by omphalopagus (n = 46). Limbs were reported in 75 cases. Congenital heart disease was seen in 17/120(14.2%) autosites. Omphalocele and meningomyelocele were the most common extracardiac anomalies in autosites. Weight along with the anatomy and position of heteropagus twins was a better determinant of the mode of delivery than weight alone. Mortality was reported in 12 cases. CONCLUSION: Autosites in HT generally carry a good prognosis, however, final outcome depends mainly on associated major cardiac anomalies. Meticulous antenatal assessment and preoperative planning are of paramount importance. LEVEL OF EVIDENCE: IV.


Asunto(s)
Cardiopatías Congénitas , Hernia Umbilical , Gemelos Siameses , Femenino , Hernia Umbilical/diagnóstico , Hernia Umbilical/cirugía , Humanos , Masculino , Embarazo , Diagnóstico Prenatal , Gemelos Siameses/cirugía
9.
Am J Med Genet A ; 185(7): 1954-1971, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-33881198

RESUMEN

The pathogenesis of omphalocele and gastroschisis is not obvious. Their etiology is disputed. The prevalence and the types of anomalies co-occurring with omphalocele and gastroschisis are variable in the different series published. The aim of this study was to estimate the frequency and the types of co-occurring anomalies in cases with gastroschisis and omphalocele. This study was performed in a well-described population of 387,067 consecutive births between 1979 and 2007. Hundred-one cases with omphalocele were registered (2.61 per 10,000), 75 (74.3%) had co-occurring anomalies comprising chromosomal anomalies (28 cases, 27.7%, including 18 trisomy 18), non-chromosomal syndromes (16 cases, 15.8%, including 3 cases with Beckwith-Wiedemann syndrome, 2 cases with the OEIS sequence, and one case with the Pentalogy of Cantrell complex), and 31 cases, 30.7% with MCA (multiple congenital anomalies). The most common MCA were musculoskeletal (23.5%), urogenital (20.4%), cardiovascular (15.1%), and central nervous (9.1%). Seventy-one cases of gastroschisis were ascertained (1.83 per 10,000). However, the prevalence increased during the study period. The frequency was highest in the mothers 15-19 years old. Sixteen out of the 71 cases with gastroschisis, (22.5%) had co-occurring anomalies including 11 cases of MCA and 5 cases with syndromes. To conclude, the frequency and the types of anomalies co-occurring with omphalocele and gastroschisis are peculiar. Therefore, cases with gastroschisis and omphalocele need to be screened for co-occurring anomalies.


Asunto(s)
Síndrome de Beckwith-Wiedemann/diagnóstico , Gastrosquisis/diagnóstico , Hernia Umbilical/diagnóstico , Síndrome de la Trisomía 18/genética , Pared Abdominal/patología , Adolescente , Adulto , Síndrome de Beckwith-Wiedemann/complicaciones , Síndrome de Beckwith-Wiedemann/genética , Síndrome de Beckwith-Wiedemann/patología , Aberraciones Cromosómicas , Anomalías Congénitas/diagnóstico , Anomalías Congénitas/genética , Anomalías Congénitas/patología , Femenino , Gastrosquisis/complicaciones , Gastrosquisis/genética , Gastrosquisis/patología , Hernia Umbilical/complicaciones , Hernia Umbilical/genética , Hernia Umbilical/patología , Humanos , Recién Nacido , Edad Materna , Madres , Síndrome de la Trisomía 18/complicaciones , Síndrome de la Trisomía 18/diagnóstico , Síndrome de la Trisomía 18/patología , Adulto Joven
10.
Prenat Diagn ; 41(4): 486-496, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33540475

RESUMEN

An omphalocele is a congenital defect in the abdominal wall characterized by absent abdominal muscles, fascia, and skin. The characteristic ultrasound appearance includes a midline defect with herniation of abdominal contents into the base of the umbilical cord. Other anatomic abnormalities are seen in approximately 50% of cases, most notably cardiac defects (19%-32%). Approximately, 50% of cases are associated with genetic and multiple malformation syndromes including trisomy 13/18, pentalogy of Cantrell and Beckwith-Wiedemann syndrome. Therefore, a thorough evaluation is recommended, including detailed anatomic survey, fetal echocardiogram, genetic counseling, and prenatal diagnostic testing. Overall prognosis depends on the size of the omphalocele, genetic studies, and associated anomalies. Early prenatal diagnosis remains important in order to provide parental counseling and assist in pregnancy management. Delivery should occur at a tertiary care center. Timing and mode of delivery should be based on standard obstetric indications with cesarean delivery reserved for large omphalocele (>5 cm) or those that involve the fetal liver. Neonatal management involves either primary or staged reduction, both of which can be associated with a prolonged neonatal hospitalization.


Asunto(s)
Hernia Umbilical/diagnóstico , Padres/psicología , Relaciones Profesional-Paciente , Femenino , Hernia Umbilical/complicaciones , Hernia Umbilical/psicología , Humanos , Recién Nacido , Imagen por Resonancia Magnética/métodos , Embarazo , Diagnóstico Prenatal/métodos , Diagnóstico Prenatal/psicología , Revelación de la Verdad
11.
Prenat Diagn ; 41(11): 1439-1448, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34473853

RESUMEN

OBJECTIVE: To examine the association between prenatal magnetic resonance imaging (MRI) based observed/expected total lung volume (O/E TLV) and outcome in neonates with giant omphalocele (GO). METHODS: Between 06/2004 and 12/2019, 67 cases with isolated GO underwent prenatal and postnatal care at our institution. MRI-based O/E TLVs were calculated based on normative data from Meyers and from Rypens and correlated with postnatal survival and morbidities. O/E TLV scores were grouped based on severity into <25% (severe), between 25% and 50% (moderate), and >50% (mild) for risk stratification. RESULTS: O/E TLV was calculated for all patients according to Meyers nomograms and for 49 patients according to Rypens nomograms. Survival for GO neonates with severe, moderate, and mild pulmonary hypoplasia based on Meyers O/E TLV categories was 60%, 92%, and 96%, respectively (p = 0.04). There was a significant inverse association between Meyers O/E TLV and risk of neonatal morbidities (p < 0.05). A similar trend was observed with Rypens O/E TLV, but associations were less often significant likely related to the smaller sample size. CONCLUSION: Neonatal outcomes are related to fetal lung size in isolated GO. Assessment of Meyers O/E TLV allows identification of GO fetuses at greatest risk for complications secondary to pulmonary hypoplasia.


Asunto(s)
Hernia Umbilical/diagnóstico , Pulmón/crecimiento & desarrollo , Imagen por Resonancia Magnética/normas , Pruebas Prenatales no Invasivas/normas , Femenino , Feto/fisiología , Edad Gestacional , Hernia Umbilical/epidemiología , Humanos , Recién Nacido , Mediciones del Volumen Pulmonar/instrumentación , Mediciones del Volumen Pulmonar/métodos , Imagen por Resonancia Magnética/métodos , Imagen por Resonancia Magnética/estadística & datos numéricos , Nomogramas , Pruebas Prenatales no Invasivas/métodos , Pruebas Prenatales no Invasivas/estadística & datos numéricos , Embarazo , Resultado del Embarazo/epidemiología , Estudios Retrospectivos
12.
Pediatr Surg Int ; 37(7): 837-841, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-33517489

RESUMEN

PURPOSE: Several studies have reported high prevalence of undescended testis (UDT) among boys with congenital abdominal wall defects (AWD). Due to rarity of AWDs, however, true prevalence of testicular maldescent among these boys is not known. We conducted a national register study to determine the prevalence of UDT among Finnish males with an AWD. METHODS: All male infants with either gastroschisis or omphalocele born between Jan 1, 1998 and Dec 31, 2015 were identified in the Register of Congenital Malformations. The data on all performed operations were acquired from the Care Register for Health Care. The register data were examined for relevant UDT diagnosis and operation codes. RESULTS: We identified 99 males with gastroschisis and 89 with omphalocele. UDT was diagnosed in 10 (10.1%) infants with gastroschisis and 22 (24.7%) with omphalocele. Majority of these required an operation; 8/99 (8.1%) gastroschisis and 19/89 (21.3%) omphalocele patients. UDT is more common among AWD patients than general population with the highest prevalence in omphalocele. CONCLUSIONS: Cryptorchidism is more common among boys with an AWD than general population. Furthermore, omphalocele carries significantly higher risk of UDT and need for orchidopexy than gastroschisis. Due to high prevalence testicular maldescent, careful follow-up for UDT is recommended.


Asunto(s)
Pared Abdominal/anomalías , Criptorquidismo/diagnóstico , Hernia Umbilical/diagnóstico , Vigilancia de la Población , Sistema de Registros , Criptorquidismo/epidemiología , Finlandia/epidemiología , Hernia Umbilical/epidemiología , Humanos , Lactante , Masculino , Prevalencia
13.
Pediatr Surg Int ; 37(5): 587-595, 2021 May.
Artículo en Inglés | MEDLINE | ID: mdl-33386445

RESUMEN

PURPOSE: We sought to estimate the prevalence, incidence, and timing of surgery for elective and non-elective hernia repairs. METHODS: We performed a retrospective cohort study, abstracting data on children < 18 years from the 2005-2014 DoD Military Health System Data Repository, which includes > 3 million dependents of U.S. Armed Services members. Our primary outcome was initial hernia repair (inguinal, umbilical, ventral, or femoral), stratified by elective versus non-elective repair and by age. We calculated prevalence, incidence rate, and time from diagnosis to repair. RESULTS: 19,398 children underwent hernia repair (12,220 inguinal, 5761 umbilical, 1373 ventral, 44 femoral). Prevalence of non-elective repairs ranged from 6% (umbilical) to 22% (ventral). Incidence rates of elective repairs ranged from 0.03 [95% CI: 0.02-0.04] (femoral) to 8.92 [95% CI: 8.76-9.09] (inguinal) per 10,000 person-years, while incidence rates of non-elective repairs ranged from 0.005 [95% CI: 0.002-0.01] (femoral) to 0.68 [95% CI: 0.64-0.73] (inguinal) per 10,000 person-years. Inguinal (median = 20, interquartile range [IQR] = 0-46 days), ventral (median = 23, IQR = 5-62 days), and femoral hernias (median = 0, IQR = 0-12 days) were repaired more promptly and with less variation than umbilical hernias (median = 66, IQR = 23-422 days). CONCLUSIONS: These data describe the burden of hernia repair in the U.S. The large variation in time between diagnosis and repair by hernia type identifies an important area of research to understand mechanisms underlying such heterogeneity and determine the ideal timing for repair. LEVEL OF EVIDENCE: Prognosis study II.


Asunto(s)
Hernia Femoral/epidemiología , Hernia Inguinal/epidemiología , Hernia Umbilical/epidemiología , Hernia Ventral/epidemiología , Herniorrafia/estadística & datos numéricos , Pared Abdominal/cirugía , Adolescente , Niño , Preescolar , Femenino , Ingle/cirugía , Hernia Femoral/diagnóstico , Hernia Femoral/cirugía , Hernia Inguinal/diagnóstico , Hernia Inguinal/cirugía , Hernia Umbilical/diagnóstico , Hernia Umbilical/cirugía , Hernia Ventral/diagnóstico , Hernia Ventral/cirugía , Humanos , Incidencia , Lactante , Recién Nacido , Masculino , Prevalencia , Estudios Retrospectivos
14.
Prenat Diagn ; 40(10): 1310-1314, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32643302

RESUMEN

OBJECTIVE: To ascertain the perinatal outcomes for an apparently isolated exomphalos detected by prenatal ultrasound. METHOD: Our dataset captures cases from 614 321 births in the Wessex region of England and the Channel Isles on all cases of pre- or postnatally diagnosed exomphalos from 1994 to 2015. Ascertainment was >95%. RESULTS: Three hundred and thirty five cases were reported to the register: 28 (8%) were not detected prenatally, 18 (6%) had already died in utero, 169 (55%) cases were found to have additional anomalies on first tertiary ultrasound scan and one case was lost to follow-up. Therefore 119 (39%) cases had an apparently isolated exomphalos. Of the 119 cases with only an exomphalos detected on first tertiary ultrasound scan, 25 (21%) had a chromosome abnormality. Of those with a normal or untested karyotype, 61% were confirmed to be an isolated anomaly after birth, 13% had an additional heart abnormality, 9% had Beckwith-Wiedemann syndrome and 11% had additional problems diagnosed postnatally. CONCLUSION: Our large population-based dataset with an average of 1 year's postnatal follow-up suggests that more than one-third of apparently isolated prenatal cases of exomphalos will have an additional finding detected after birth. These data should help assist clinicians in their prenatal counseling.


Asunto(s)
Hernia Umbilical/diagnóstico , Hernia Umbilical/epidemiología , Resultado del Embarazo/epidemiología , Adulto , Niño , Preescolar , Aberraciones Cromosómicas/estadística & datos numéricos , Inglaterra/epidemiología , Femenino , Estudios de Seguimiento , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/epidemiología , Historia del Siglo XX , Historia del Siglo XXI , Humanos , Lactante , Recién Nacido , Masculino , Embarazo , Diagnóstico Prenatal/estadística & datos numéricos , Ultrasonografía Prenatal/estadística & datos numéricos
15.
J Clin Ultrasound ; 48(7): 416-418, 2020 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-32602135

RESUMEN

Liver herniation commonly associated with omphalocele occurs in only approximately 2.3% to 16% of fetuses with gastroschisis. Liver herniation in such cases is associated with considerably decreased survival rates (43% vs 97% with or without liver herniation, respectively). Rarely, abnormally positioned fetal hepatic vasculature has been reported mainly in association with congenital diaphragmatic hernia. In these rare cases, intrathoracic depiction of hepatic venous vasculature has assisted in confirming intrathoracic displacement of the fetal liver. We present a case of a large gastroschisis with complete herniation of the fetal liver in which prenatal sonography depicted an extracorporeal ductus venosus.


Asunto(s)
Gastrosquisis/etiología , Venas Hepáticas/diagnóstico por imagen , Hernia Umbilical/complicaciones , Hígado/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Adolescente , Femenino , Gastrosquisis/diagnóstico , Gastrosquisis/embriología , Hernia Umbilical/diagnóstico , Hernia Umbilical/embriología , Humanos , Embarazo
16.
Am J Med Genet A ; 179(8): 1642-1651, 2019 08.
Artículo en Inglés | MEDLINE | ID: mdl-31184807

RESUMEN

Very few cases of craniorachischisis (CRN) with concomitant omphalocele (OMP) in the setting of trisomy 18 are reported in literature. Solitary midline closure defects are estimated to be more prevalent in trisomy 18 compared to the general population. Neurulation defect comparisons include anencephaly 0-2% versus 0.0206%, spina bifida 1-3% versus 0.0350%, and encephalocele 0-2% versus 0.0082% [Parker et al. (2010); Birth Defects Research. Part A: Clinical and Molecular Teratology, 88:1008-1016; Springett et al. (2015); American Journal of Medical Genetics. Part A, 167A:3062-3069]. The solitary anterior malformation OMP has been reported as high as 6% with trisomy 18 [Springett et al. (2015); American Journal of Medical Genetics. Part A, 167A:3062-3069]. We report the third published case of CRN with concomitant OMP observed in a likely trisomy 18 fetus that screened positive by noninvasive prenatal screening. Furthermore, we review and analyze the current literature to augment understanding of the genetic basis for anterior and posterior closure defects such as CRN and OMP. Although the current genetic lexicon lacks any definitive association with the simultaneous defects presented, previous research elucidated various genes related to anterior or posterior closure interruption individually. By consolidating current research, the authors advance knowledge of interconnected genetic pathology and direct future genetic mapping efforts.


Asunto(s)
Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Hernia Umbilical/genética , Defectos del Tubo Neural/genética , Alelos , Estudios de Asociación Genética/métodos , Genotipo , Hernia Umbilical/diagnóstico , Humanos , Defectos del Tubo Neural/diagnóstico , Fenotipo , Síndrome de la Trisomía 18/diagnóstico , Síndrome de la Trisomía 18/genética
17.
Prenat Diagn ; 39(12): 1070-1079, 2019 11.
Artículo en Inglés | MEDLINE | ID: mdl-31410858

RESUMEN

OBJECTIVE: To determine the predictive value of the fetal omphalocele circumference/abdominal circumference (OC/AC) ratio for type of surgical closure and survival and to describe the trajectory of OC/AC ratio throughout gestation. METHODS: This cohort study included all live-born infants prenatally diagnosed with an omphalocele in our tertiary centre (2000-2017) with an intention to treat. The OC/AC ratio and liver position were determined using 2D ultrasound at three periods during gestation (11-16, 17-26, and/or 30-38 weeks). Primary outcome was type of closure; secondary outcome was survival. In the secondary analyses, the predictive value of the OC/AC-ratio trend for type of closure and survival was assessed. RESULTS: Primary closure was performed in 37/63 (59%) infants, and 54/63 (86%) survived. The OC/AC ratio was predictive for type of closure and survival in all periods. Optimal cut-off values for predicting closure decreased throughout gestation from 0.69 (11-16 weeks) to 0.63 (30-38 weeks). Repeated OC/AC-ratio measurements were available in 33 (73%) fetuses. The trend of the OC/AC ratio throughout gestation was not significantly associated with type of closure. All infants without liver herniation underwent primary closure. CONCLUSION: Type of omphalocele surgical closure and survival can be predicted prenatally on the basis of the OC/AC ratio and liver herniation independent of associated anomalies. LEARNING OBJECTIVE: The reader will be able to use the OC/AC ratio throughout gestation in all omphalocele cases for prediction of type of closure and survival and thus patient counselling.


Asunto(s)
Cavidad Abdominal/patología , Técnicas de Cierre de Herida Abdominal , Hernia Umbilical/diagnóstico , Hernia Umbilical/cirugía , Vísceras/patología , Cavidad Abdominal/diagnóstico por imagen , Técnicas de Cierre de Herida Abdominal/efectos adversos , Técnicas de Cierre de Herida Abdominal/clasificación , Técnicas de Cierre de Herida Abdominal/normas , Estudios de Cohortes , Femenino , Desarrollo Fetal/fisiología , Edad Gestacional , Hernia Umbilical/mortalidad , Hernia Umbilical/patología , Humanos , Recién Nacido , Masculino , Tamaño de los Órganos , Valor Predictivo de las Pruebas , Embarazo , Tercer Trimestre del Embarazo/fisiología , Pronóstico , Reproducibilidad de los Resultados , Análisis de Supervivencia , Ultrasonografía Prenatal/métodos , Ultrasonografía Prenatal/normas , Vísceras/diagnóstico por imagen , Circunferencia de la Cintura/fisiología
18.
Pediatr Surg Int ; 35(8): 911-914, 2019 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-31203385

RESUMEN

PURPOSE: The cadmium (Cd) chick model has been described as a reliable model of omphalocele. Skeletal anomalies, including lumber lordosis, can be seen in the Cd chick model, as well as in the human omphalocele. Bone deformations, such as lordosis, are associated with high bone mineral density (BMD). Recently, three-dimensional microcomputed tomography (3DMCT) has been used to investigate skeletal development in small animal embryos. We used 3DMCT to test the hypothesis that the BMD is increased in the Cd-induced omphalocele chick model. METHODS: After a 60-h incubation, chicks were exposed to either chick saline or Cd in ovo. Chick embryos were harvested at embryonic day 16.5 (E16.5) and were divided into control (n = 8) and Cd (n = 9). Chicks were then scanned by 3DMCT. The body volume, bone volume, bone/body volume ratio, bone mineral quantity and BMD were analysed statistically (significance was accepted at p < 0.05). RESULTS: Bone mineral density (mg/cm3) was significantly increased in the Cd group compared to control group (235.3 ± 11.7 vs 223.4 ± 4.6, p < 0.05), whereas there was no significant difference in the bone/body volume ratio between the Cd group and the control group (0.7 ± 0.1 vs 0.6 ± 0.0). The body volume (cm3) (0.3 ± 0.2 vs 0.3 ± 0.1), bone volume (cm3) (0.2 ± 0.2 vs 0.2 ± 0.1), and bone mineral quantity (mg) (51.3 ± 41.6 vs 41.5 ± 16.5) were not significantly different between the two groups. CONCLUSIONS: Increased BMD may be associated with lordosis of the vertebral column in the Cd-induced omphalocele chick model, stimulating osteogenesis by activating the canonical Wnt signalling pathway.


Asunto(s)
Densidad Ósea/fisiología , Hernia Umbilical/diagnóstico , Imagenología Tridimensional/métodos , Microtomografía por Rayos X/métodos , Animales , Cadmio/toxicidad , Embrión de Pollo , Modelos Animales de Enfermedad , Hernia Umbilical/inducido químicamente , Organogénesis
19.
Pediatr Surg Int ; 34(6): 629-633, 2018 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-29637257

RESUMEN

BACKGROUND: Associated anomalies in omphalocele are common, but to which extent these anomalies are diagnosed before or after birth is less well documented. AIM: To investigate the different types of associated anomalies, long-term survival and the extent whether these are diagnosed pre- or postnatally in children with a prenatal diagnosis of omphalocele at a single institution. MATERIALS AND METHODS: Retrospective review of all pregnancies with omphalocele managed and/or born at our institution between 2006 and 2016. RESULTS: A total of 42 cases with prenatally diagnosed omphalocele were identified. Of those 14 (31%) decided to terminate the pregnancy (TOP). Of the remaining 28 that continued, 12 were giant omphaloceles. The overall mortality rate was 18, 25% for giant and 12% for non-giant omphaloceles. 64% had associated anomalies. Only 1/3 of these anomalies is diagnosed prenatally. CONCLUSION: The rate of associated malformations that are diagnosed postnatally is high, but the majority was malformations with a minor clinical significance or impact on future health. Beckwith-Wiedemann syndrome was present only in cases of non-giant omphalocele in our cohort.


Asunto(s)
Hernia Umbilical/diagnóstico , Diagnóstico Prenatal , Anomalías Múltiples/epidemiología , Aborto Inducido/estadística & datos numéricos , Adulto , Trastornos de los Cromosomas/epidemiología , Femenino , Hernia Umbilical/mortalidad , Humanos , Lactante , Recién Nacido , Masculino , Embarazo , Estudios Retrospectivos , Ultrasonografía Prenatal , Adulto Joven
20.
J Therm Biol ; 71: 209-211, 2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-29301692

RESUMEN

The objective was to verify if thermography is able to detect inflammatory signs on the skin surface by comparing the umbilical region of healthy calves and calves presenting omphalitis. Twenty healthy calves (control group) had their lateral umbilical region and abdominal region examined with a thermal imaging camera in order to obtain a regional thermograph. The thermographic examination was then performed on 27 calves (Omphalitis group) presenting omphalitis diagnosed by physical examination. The maximum temperature of the lateral umbilical region in calves (aged < 30 days) was 35.7°C ± 1.8 for the control group and 37.0°C ± 1.1 for the omphalitis group and was significantly different (p = 0.002). No difference was found on the temperature of the abdominal umbilical region. In the abdominal and lateral region the highest temperature site was differently positioned between the groups. In conclusion, thermography is able to detect inflammatory signs on the skin of newborn calves and has advantages as a non-invasive, fast and safe method of supporting veterinary diagnosis.


Asunto(s)
Enfermedades de los Bovinos/diagnóstico , Hernia Umbilical/diagnóstico , Termografía/veterinaria , Animales , Temperatura Corporal , Bovinos , Termografía/métodos
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