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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical significance of the fetal choroid plexus cysts, observed by prenatal sonographic examination, is now a days still discussed. A consequence of this situation is the discordance of opinions about the question of whether karyotype analysis is always necessary to evaluate chromosomal anomalies sometimes correlated, especially in the presence of (as some authors have reported) large (> 1 cm), bilateral, persistent cysts and of other structural abnormalities. We have effected a prospective study to estimate the incidence of fetal choroid plexus cysts and to establish the obstetrical behaviour to be adapted in these cases. During 834 routine ultrasonographic examinations at 18-21 weeks' gestational age, we have evaluated the presence of fetal choroid plexus cysts in 9 fetuses, with an incidence of 1.07%. Three of these cysts were larger than 1 cm, three were bilateral. Karyotype analysis, effected in all cases, diagnosed a case of Trisomy 18 in a fetus who ultrasonographically showed, in addition to a unilateral cyst of 1.2 cm, also a diaphragmatic hernia. Careful ultrasound follow-up revealed that all the cysts disappeared spontaneously, but two of them (whose dimensions were larger than 1 cm) were still visible at 24 weeks' gestation and probably this age will be too advanced to begin a chromosome analysis. In conclusion, we think that the presence of fetal choroid plexus cysts always imposes a careful ultrasonographic evaluation of fetal morphology and, since there is always the risk that other small fetal anomalies (evocative of abnormal fetal karyotypes) wight not be noted, we believe that it is better, in any case, to recommend to the patient a prenatal cytogenetical analysis.
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PMID:[Fetal choroid plexus cysts: a real dilemma!]. 835 86

Nonimmune hydrops fetalis (NIHF) or generalized soft tissue edema and cavity effusions may be due to cardiovascular diseases, congenital infections, genitourinary malformations, thoracic masses, placental conditions, chromosomal abnormalities, and idiopathic. We report 32 cases of NIHF from among 429 neonates who underwent autopsies (incidence 7.45%). Sixteen cases (50%) had cardiovascular disease; all were due to low output cardiac failure; 7 had structural congenital heart disease. Three of the children with congenital heart disease also had chromosomal abnormalities: 2 had trisomy 18 and 1 had Noonan syndrome. Among myocardial conditions were five subjects with cardiomyopathies (1 of each of the following types): oncocytic, dilated, endocardial fibroelastosis, cardiac glycogenosis, and carnitine deficiency; 3 had myocarditis, and 1 had cardiac rhabdomyomas. Congenital infections were due to cytomegalovirus in 3 cases, bacteria in 2, and parvovirus in 1. The mechanism of NIHF in these cases might be a combination of decreased myocardial contractility due to myocarditis and fetal anemia. Genitourinary diseases were present in 5 newborns: Two had congenital nephrotic syndrome, 1 had VACTER association, 1 had prune-belly syndrome, and 1 had urogenital sinus malformation. Intrathoracic lesions were found in 2 babies (pulmonary sequestration and diaphragmatic hernia). One twin died of volume overload due to twin transfusion syndrome. Only 2 newborns were classified as idiopathic. Our study shows that cardiovascular diseases that lead to heart failure or impaired venous return are more common in the liveborn (50%), whereas congenital infections are more common in the stillborn with NIHF.
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PMID:Nonimmune hydrops fetalis in the liveborn: series of 32 autopsies. 1601 Apr 81

Birth defects (BDs) are conditions that 1) result from a malformation, deformation, or disruption in one or more parts of the body; 2) are present at birth; and 3) have a serious, adverse effect on health, development, or functional ability. BDs are leading causes of pediatric hospitalizations, medical expenditures, and infant mortality. To estimate national hospital charges and rates of in-hospital deaths for a greater number of specific BDs than estimated in previous reports, investigators at the University of Arkansas for Medical Sciences and CDC used the Healthcare Cost and Utilization Project 2003 Kids' Inpatient Database (KID), developed and distributed by the Agency for Healthcare Research and Quality. KID is a 10% sample of hospital discharges after uncomplicated births and an 80% sample of all other pediatric discharges from 36 participating states. Data are weighted to represent all pediatric hospitalizations in the United States. The investigators analyzed hospital stays during 2003 for newborn infants with any of 35 BDs. This report describes the results of that analysis, which indicated substantial variation among BDs regarding average length of stay, average hospital charge, and the incidence of in-hospital deaths. Average length of stay was greatest for infants with surgically repaired gastroschisis or omphalocele. Average hospital charges were highest for infants with hypoplastic left heart syndrome and common truncus arteriosus. Although anencephaly, trisomy 13, and trisomy 18 were associated with the highest rates of in-hospital death, the largest total numbers of deaths associated with neonatal hospitalizations occurred in infants with diaphragmatic hernia and renal agenesis. Further studies are needed to distinguish outcomes for infants with isolated and multiple defects and to assess longer-term outcomes.
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PMID:Hospital stays, hospital charges, and in-hospital deaths among infants with selected birth defects--United States, 2003. 1723 Jan 42

In spite of its prevalence in neonates, an inguino-scrotal hernia is a rarely detected condition in prenatal life. The sonographic findings, i. e., a scrotal mass with intestinal peristalsis, the differential diagnosis, and possible associations between a scrotal hernia and chromosomal aberrations are described by presenting the case of a fetus with trisomy 18 and major structural anomalies.
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PMID:[Prenatal diagnosis of an inguino-scrotal hernia in a fetus with trisomy 18]. 1877 88

The pentalogy of Cantrell was first described in 1958 by Cantrell and coworkers, who reported five cases in which they described a pentad of findings including a midline supraumbilical thoracoabdominal wall defect, a defect of the Lower sternum, abnormalities of the diaphragmatic pericardium and the anterior diaphragm, and congenital cardiac anomalies. Trisomy 18 has an incidence of about 0.3 per 1000 newborns. We present a case of trisomy 18 with incomplete Cantrell syndrome. The patient presented with hypogenesis of the corpus callosum, vermian-cerebellar hypoplasia (Dandy-Walker variant), ventricular septal defect, dextrocardia, patent ductus arteriosus, a defect of the lower sternum, a midline supraumbilical abdominal wall defect with omphalocele, congenital left posterior diaphragmatic hernia (Bochdalek hernia), micrognathia, low-set and malformed ears, rocker-bottom feet, dorsiflexed hallux, hypoplastic nails, short neck, and wrist deformity. Trisomy 18 syndrome was unusually combined with the pentalogy of Cantrell. We present this case because of its rarity and high risk of mortality.
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PMID:Trisomy 18 syndrome with incomplete Cantrell syndrome. 1894 4

The results of thoracoscopic repair of oesophageal atresia with or without tracheo-oesophageal fistula are presented. Twenty-six children had the repair performed thoracoscopically (22 in Edinburgh and 4 by Edinburgh surgeons in other institutions). Twenty infants had oesophageal atresia with tracheo-oesophageal fistula and 6 had isolated oesophageal atresia without fistula. Details of the technique are presented. Birth weights ranged from 1.4 to 3.9 kg and children were operated between 1 day and three months of age. There were 7 minor anastomotic leaks all managed conservatively, 1 recurrent fistula managed thoracoscopically and 9 anastomotic strictures. One child had a tracheo-bronchial fistula not seen at original thoracoscopy. There were 3 deaths (one child with Edward's syndrome, one with associated congenital diaphragmatic hernia and one late death with severe cardiac disease). Thoracoscopic repair of oesophageal atresia is feasible and the long term outcome appears favorable.
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PMID:Esophageal atresia surgery in the 21st century. 1910 17

Perineal hernias are very rare and mostly reported in adults, with only 7 cases reported in children. We report a female fetus, terminated at 18 weeks of gestation due to trisomy 18. In addition to multiple typical findings of trisomy 18, this fetus had perineal hernia with defect of the perineal skin and prolapse of multiple bowel loops. To our knowledge there are no reported cases of perineal hernia presenting antenatally nor are there reported cases of perineal hernia associated with trisomy 18.
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PMID:Congenital perineal hernia in a fetus with trisomy 18. 1924 Dec 40

Amniotic fluid contains numerous biomolecules derived from fetus and mother, thus providing precious information on pregnancy. Here, we evaluated oxidative stress of human amniotic fluid and measured the concentration of catalytic Fe(II). Amniotic fluid samples were collected with consent from a total of 89 subjects in Nagoya University Hospital, under necessary medical interventions: normal pregnancy at term, normal pregnancy at the 2nd trimester, preterm delivery with maternal disorders but without fetal disorders, congenital diaphragmatic hernia, fetal growth restriction, pregnancy-induced hypertension, gestational diabetes mellitus, Down syndrome and trisomy 18. Catalytic Fe(II) and oxidative stress markers (8-hydroxy-2'-deoxyguanosine, 8-OHdG; dityrosine) were determined with RhoNox-1 and specific antibodies, respectively, using plate assays. Levels of 8-OHdG and dityrosine were higher in the 3rd trimester compared with the 2nd trimester in normal subjects, and the abnormal groups generally showed lower levels than the controls, thus suggesting that they represent fetal metabolic activities. In contrast, catalytic Fe(II) was higher in the 2nd trimester than the 3rd trimester in the normal subjects, and overall the abnormal groups showed higher levels than the controls, suggesting that high catalytic Fe(II) at late gestation reflects fetal pathologic alterations. Notably, products of H2O2 and catalytic Fe(II) remained almost constant in amniotic fluid.
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PMID:Catalytic ferrous iron in amniotic fluid as a predictive marker of human maternal-fetal disorders. 2567 52

Congenital diaphragmatic hernia (CDH) occurs in 5-10% associated with chromosomal abnormalities like, Pallister Killian syndrome, Trisomy 18, and certain deletions.. Association of CDH with trisomy 13 (Patau syndromes) is very rare. Here, we report such an unusual association, where surgical repair was done, but eventually the case succumbed as a result of multiple fatal co-morbidities.
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PMID:Congenital diaphragmatic hernia in a case of patau syndrome: a rare association. 2603 14

Pancreatic hamartomas are extremely rare tumors in adults and even more so in children. They are lesions characterized by acinar, islet and ductal components found in varying proportions and in a disorganized pattern. We report a case of a premature female with trisomy 18 diagnosed by amniocentesis. The newborn was delivered by cesarean section at thirty-three weeks of gestation and expired within one hour of birth. Postmortem examination exhibited numerous features associated with Trisomy 18 including lanugo on the torso and arms, micrognathia, microstomia, left low-set ear with small flat pinna, closed ear canal, clenched fists with overlapping fingers, rocker-bottom feet, narrow pelvis, large right diaphragmatic hernia and left pulmonary hypoplasia. Microscopic examination of the pancreas revealed an area, 1.2 cm in greatest dimension, with branching ducts and cysts lined by cuboidal epithelium intermingled within primitive mesenchymal proliferation and exocrine glands. The cysts measured up to 0.2 cm and were surrounded by a collarette of proliferating spindle cells as highlighted by Masson's trichrome stain. A diagnosis of pancreatic hamartoma was rendered. A total of thirty-four cases of pancreatic hamartomas have been reported in the literature including twenty-seven in adults, five in children and two in newborns. Our case may be the third pancreatic hamartoma reported in association with Trisomy 18. We recommend that careful examination of the pancreas be performed in individuals with Trisomy 18 to further characterize this lesion as one of the possible abnormal findings associated with this syndrome.
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PMID:Pancreatic hamartoma in a premature Trisomy 18 female. 2926 27


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