Prenatal Diagnosis of Esophageal Atresia - Performance and Consequences.

BACKGROUND: Prenatal diagnosis of congenital malformations is considered favorable. Esophageal atresia (EA) is prenatally detected in 10-40% of patients. The aims of our study were to assess factors influencing the prenatal detection rate and to study the outcome in EA patients with and without prenatal diagnosis. METHOD: We included 136 patients in two time periods, group 1 (1996-2002, n = 68) and group 2 (2014-2020, n = 68). We registered clinical variables; prenatal signs, perinatal and postnatal outcome from the electronic patient record. RESULTS: Twenty-five patients (18%) had a prenatal diagnosis of EA, significantly more during 2014-2020 (28%), than during 1996-2002 (9%). Patients with EA type A or B and with associated anomalies had increased likelihood of prenatal diagnosis, odds ratio (OR) 9.00 (1.99-40.69) and 3.53 (1.24-10.06), respectively. Among the 25 patients with prenatal diagnosis all had polyhydramnios and 16 had small/absent stomach. Prenatally diagnosed patients arrived significantly earlier at the surgical unit (median 2 h (2 h-1 days) vs 21 h (2 h-1275 days)), had more delayed primary anastomosis (OR 8.80 (2.68-28.92)) and anastomotic stricture (OR 3.11 (1.20-8.04)), longer length of stay (median 62 days (11-212 days) vs 20 days (2-270 days)) and longer time on ventilator (median 5 days (1-25 days) vs 1.5 days (0.5-33 days)) compared to patients without prenatal diagnosis. In multivariate analysis prenatal diagnosis predicts length of stay. CONCLUSION: Prenatally diagnosed EA patients have more; type A and B malformations, associated anomalies and neonatal morbidity. Consequences of the assumed benefits of prenatal diagnosis; opportunity of early arrival to surgical care and prenatal counselling, must be further studied.

Traumatic stress, mental health, and quality of life in adolescents with esophageal atresia.

INTRODUCTION: We aimed to investigate QoL in EA patients in relation to comparison groups and to clinical factors including experienced traumatic stress. MATERIAL AND METHODS: Adolescents with EA in Norway born between 1996 and 2002 were included. Clinical assessment and patient's characteristics were collected. Quality of life (PedsQL), traumatic stress (IES-13) and mental health (SDQ-20) were compared to groups of healthy controls, children with acute lymphoblastic leukemia (ALL) and kidney transplanted children (TX). RESULTS: 68 EA adolescents participated. Total scores for PedsQL were not different from the healthy group and ALL patients, but significantly better than the TX patients. The subscale for physical performance was significantly lower than in healthy adolescents, and nine (17%) patients had scores ≤70 indicating reduced health status. Five EA adolescents (12%) had mental health scores suggesting a psychiatric disorder, and six (9%) reported high traumatic stress scores with a significant correlation to days on ventilator in the neonatal period. The strongest predictors for quality of life among EA adolescents were self-reported mental health, posttraumatic stress and GERD symptoms. CONCLUSION: Scores for Quality of life in the EA group are good except for subscale for physical performance. Symptoms of posttraumatic stress, mental strain and gastroesophageal reflux are predictors of reduced QoL.

Prenatal extravasation of urine seems to preserve renal function in boys with posterior urethral valves.

INTRODUCTION: A posterior urethral valve (PUV) may lead to extravasation of urine, resulting in prenatal ascites and/or perirenal urinoma. Extravasation has been presumed to act as a pop-off mechanism, preserving renal function, but previous reports addressing this presumption have been inconclusive. AIM OF STUDY: The present study compares renal function in patients with PUV with and without extravasation. MATERIAL AND METHODS: Sixty boys with a confirmed diagnosis of PUV as neonates (gestational age [GA]<44 weeks) throughout 2001-2016 were included. Clinical data were collected from medical records. Renal function was assessed by nadir plasma creatinine, creatinine at the last follow-up, and glomerular filtration rate (GFR) at the last follow-up. The GFR was estimated using the Schwartz formula. Renal function was classified according to the kidney disease: improving global outcomes (KDIGO) guidelines' grades of chronic kidney disease (CKD). Glomerular filtration rate > 90 ml/min/1.73m2 at the last follow-up was classified as normal renal function. RESULTS: Twelve patients (20%) had ascites and/or urinoma, and 48 (80%) did not. GA and birth weight were not different in patients with and without extravasation. PUV was suspected from prenatal ultrasound findings in 66.7% of the patients in both groups. Median nadir creatinine was 21 (range, 11-33) µmol/L in boys with ascites/urinoma, and all values were within the age-adjusted reference values. Nadir creatinine was 23 (14-199) µmol/L in boys without extravasation, and it was above the normal range in 14 boys. The incidence of elevated nadir creatinine was significantly different in the two groups (p < 0.025). One of the 12 patients with extravasation developed chronic renal failure (CKD 3). In the group of 48 patients without extravasation, 20 (42%) had chronic renal failure grade 2-5, and among these, 5 patients have had a renal transplant (CKD grade 5). The prevalence of CKD grade 2-5 was statistically different in the two groups (p = 0.03). These findings are presented in the summary figure. CONCLUSION: Extravasation of urine was found in 12 of 60 (20%) boys with PUV. These patients had significantly lower prevalence of CKD at the last follow-up than patients without extravasation. This finding is important in prenatal counseling. It also indicates that prenatal decompression of the bladder and upper tract is beneficial in patients with PUV, which is relevant to the discussion of prenatal intervention in these fetuses.

Preoperative liquid gastric emptying rate does not predict outcome after fundoplication.

AIM OF THE STUDY: Preoperative gastric emptying (GE) rate in patients with gastrointestinal reflux disease (GERD) was evaluated as a predictor of outcome after antireflux surgery. METHODS AND PATIENTS: GE was assessed using radionuclide scintigraphy and a standardized meal with cow's milk. GE half time (T1/2), patient demographics and GERD symptoms including vomiting (>4days/week), retching (>4days/week), prolonged feeding time (>3h/day), and discomfort after meals were recorded pre- and postoperatively. A standardized follow-up included a 24-h pH-monitoring and an upper gastrointestinal contrast study. Of 74 patients undergoing Nissen fundoplication between 2003 and 2009, 35 underwent a preoperative GE study. The remaining 39 patients were not examined owing to volume intolerance, cow's milk intolerance or allergy, inability to lie still, or parents refusing participation. MAIN RESULTS: Median age at fundoplication was 4.9 [range 1.1-15.4] years, and follow-up time was median 4.3 [1.9-8.9] years. GERD recurred in 7 (20%) patients. Preoperative T1/2 in the seven patients with recurrent GERD was median 45 [21-87] min compared to 44 [16-121] min in the 28 patients without recurrent GERD (p=0.92). There was no significant difference between the one third of patients with the slowest GE [T1/2 54-121min] and the remaining patients [T1/2 16-49min] regarding GERD recurrence or postoperative vomiting, retching, prolonged feeding time, or discomfort after meals. CONCLUSION: Preoperative GE rate did not predict outcome after antireflux surgery, as slow GE was not associated with recurrent GERD or postoperative troublesome symptoms such as vomiting, retching, or meal discomfort.

Satisfactory long-term results after Nissen fundoplication.

BACKGROUND: Complications and unsatisfactory long-term results after antireflux surgery in children have received increased attention. The aim of this study was to report parental assessment of outcome after Nissen fundoplication. METHODS: Ninety-three patients operated with primary Nissen fundoplication between 1990 and 2001 were included. Medical records were reviewed, and parents were interviewed for evaluation of postoperative results. RESULTS: Of the 93 children, 51 were neurologically impaired and 14 children had repaired esophageal atresia. Median follow-up time was 6.0 years. Total mortality for the patient population was 13%. Five children died as a complication of the surgery, whereas eight deaths were unrelated to the Nissen fundoplication. Ninety-two percent of the parents reported better well-being of the child after the Nissen fundoplication, and 83% were completely satisfied with the postoperative results. Pulmonary symptoms were reduced in 59%, and quality of sleep improved in 68% of the children. Nine children (10%) had been operated with a redo NF. CONCLUSION: The majority of parents were satisfied with the long term results of the Nissen fundoplication.

Prenatal diagnosis of congenital malformations and parental psychological distress--a prospective longitudinal cohort study.

OBJECTIVE: To test whether postnatal psychological distress in parents of babies with congenital malformations is reduced by prenatal diagnosis. METHODS: A prospective observational longitudinal cohort study was conducted at two Norwegian hospitals. We included 293 parents of babies with congenital malformations (prenatal detection rate: 36.5%) referred for neonatal surgery and 249 parents of healthy babies (comparison group). Parental psychological responses were assessed on three postnatal occasions by psychometric instruments (GHQ-28, STAI-X1, and IES). RESULTS: Significantly increased psychological distress (GHQ-28) was reported by parents who received prenatal diagnosis as compared to postnatal diagnosis; acutely 28.9 versus 24.4, P = 0.006 (comparison group: 19.6); at 6 weeks 26.8 versus 21.5, P < 0.001 (comparison group: 17.7); and at 6 months 22.6 versus 18.7, P = 0.015 (comparison group: 16.6). Mothers consistently reported higher levels of distress than fathers. Multiple linear regression analysis showed that prenatal diagnosis and being a mother significantly predicted severity of acute psychological distress. At 6 weeks and 6 months, mortality and associated anomalies were significant independent predictors of psychological distress. CONCLUSION: Controlling for other covariates, we found that prenatal diagnosis of congenital malformations was a significant independent predictor of acute parental psychological distress after birth.

Congenital diaphragmatic hernia: a meta-analysis of mortality factors.

PURPOSE: The aim of this study was to review all available studies reported in the English-language literature from 1975 through 1998, and by meta-analysis assess the importance of prenatal diagnosis, associated malformations, side of hernia, timing of surgery, and study population on mortality rates in patients with congenital diaphragmatic hernia (CDH). METHODS: One-hundred-two studies were identified, and 51 studies (2,980 patients) fulfilled the prespecified inclusion criteria. Studies were grouped according to study population into: (I) fetuses diagnosed prenatally; (II) neonates admitted to a treatment center; and (III) population-based studies. RESULTS: Pooled total mortality rate was significantly higher in category I than in category III (75.6% v 58.2%, P < .001). Pooled hidden postnatal mortality rate (deaths before admittance to a treatment center) in population-based studies was 34.9%. Prenatally diagnosed patients in both category II and III had significantly higher mortality rates than those diagnosed postnatally. Mortality rates were significantly higher among CDH infants with associated major malformations compared with isolated CDH in all 3 categories. An increased mortality rate in right-sided CDH was found in category II and III. CONCLUSIONS: Prenatal diagnosis of CDH, presence of associated major malformations, and the study population have a major influence on mortality rate. The very high mortality rate in studies of fetuses with a prenatal diagnosis of CDH should be taken into account in prenatal counselling.

Consequences of prenatal ultrasound diagnosis: a preliminary report on neonates with congenital malformations.

OBJECTIVE: The aim of the present study was to examine the sensitivity of prenatal ultrasound diagnosis in neonates referred for surgery, and to test whether a prenatal versus postnatal diagnosis influenced mode of delivery and neonatal outcome of these infants. PATIENTS: Thirty-six consecutive neonates with congenital diaphragmatic hernia, abdominal wall defects, bladder exstrophy and meningomyelocele were included. RESULTS: The sensitivity of prenatal ultrasound for diagnosis of the congenital malformations was 7/36 (19%) at 17-18th week of gestation, and overall 13/36 (36%). Overall sensitivity was 2/8 in neonates with congenital diaphragmatic hernia, 6/12 in neonates with abdominal wall defects, 5/13 in neonates with meningomyelocele, whereas none of three cases with bladder exstrophy were detected prenatally. No significant improvement in neonatal morbidity was found comparing the prenatally and postnatally diagnosed groups. The neonatal survival rate was 10/13 (77%) in the prenatally diagnosed group and 22/23 (96%) in the postnatally diagnosed group (p=0.12). CONCLUSIONS: The sensitivity of prenatal ultrasound in diagnosing the congenital malformations under study in a low risk population was 19% at 17-18th week of gestation and 36% throughout the pregnancy. Prenatal diagnosis altered management of labor, but caused no improvement in neonatal outcome.

Effects of anal invasive treatment and incontinence on mental health and psychosocial functioning of adolescents with Hirschsprung's disease and low anorectal anomalies.

BACKGROUND/PURPOSE: Recent studies of adolescents with Hirschsprung's disease (HD) and low anorectal anomalies (LARA) showed persistent impairment of fecal control in both groups, but very different mental and psychosocial outcome. METHODS: To explore possible reasons for these differences, 19 adolescents with HD (aged 10 to 20 years; median, 16) operated on by the Duhamel technique were compared with 17 adolescents with LARA (aged 12 to 20 years; median, 15). The 36 adolescents were assessed for treatment procedures, bowel function, and mental and psychosocial outcome by data collected from medical records, physical examination, semistructured interview, and standardized questionnaires. The parents of 30 adolescents were also interviewed and completed questionnaires. RESULTS: Duration of anal invasive treatment procedure and current bowel function were associated with mental and psychosocial outcome. The treatment variable, duration of anal dilation, was the most significant predictor of the adolescents's mental health (R2 = .41, P < .01), whereas chronic family difficulties and parental warmth together with the current bowel function variables, fecal and flatus continence function, best explained the variance in psychosocial outcome (R2 = .77, P < .0001). Thus, the differences in treatment procedures and continence function between the HD and LARA groups may partially explain differences in mental and psychosocial outcome. CONCLUSIONS: These findings suggest that anal dilatation and continence dysfunction may have negative impact on mental health and psychosocial functioning. Indications for and ways of performing the procedure of dilation, and the treatment of persistent incontinence problems, are questioned.

Long-term functional, manometric, and endosonographic evaluation of patients operated upon with the Duhamel technique.

Long-term functional results, anal endosonography (AES), and anal canal manometry were recorded in 48 patients aged 10 to 24 years (median 18) operated upon with the Duhamel technique for Hirschsprung's disease; 60.4% had perfect fecal control, 31.3% occasional staining and/or gas incontinence, and 8.3% constant fecal soiling, and 10.4% complained of constipation. Compared to normals, the patients had significantly reduced anal canal resting and squeeze pressures. AES visualized scar tissue in both the internal and external anal sphincter.

[Surgical injuries registered in the Norwegian system for patient injuries. Possibilities of the use of the material for quality improvement in Norwegian hospitals]. / Kirurgiske skader registrert i Norsk Pasientskadeerstatning. Muligheter for bruk av skadematerialet i kvalitetsutvikling i norske sykehus.

328 surgical "errors" reported to the Norwegian System of Compensation for Injuries to Patients were analysed in order to find out how the errors can be exploited for the purpose of quality improvement. In 8% of the cases the patients had been treated as emergency cases. 7% of the patients had been treated as out-patients. 30% of the patients had become more than 15% permanently disabled as a consequence of the "error". The Norwegian System of Compensation for Injuries to Patients operates with five different categories of errors defined by medical specialty, of which surgery is one. We found that among "surgical errors" 16% of the patients had been treated by an anaesthetist or by a specialist in internal medicine, and 13% had been treated by a gynaecologist. There were several recurring "errors" such as nerve injuries and complications related to general atherosclerosis. A system for categorising errors with a view to quality improvement should be different from other systems of categorisation. We suggest a system based on not only five but all medical specialties. Data from such a system could be used to prepare "pedagogic reports" that can be sent to the managers of services and education in each medical specialty. Thus, by turning surgical errors into "medical treasures", the errors can be exploited to promote quality improvement.

Anorectal anomalies: anorectal manometric function and anal endosonography in relation to functional outcome.

To assess the relation between continence and the manometric and endosonographic state of the anorectal segment after surgery for anorectal anomalies (ARA), 33 adolescents operated upon for ARA and 14 controls were examined. Seventeen patients had low and 16 intermediate or high ARA. Fecal continence was recorded, and anal canal manometry was performed by microtransducer. The sphincter muscle complex and its relation to the anal opening was visualized by anal endosonography (ES). Ten patients had perfect continence, 10 had staining, and 13 had soiling. The anal canal resting and squeeze pressures were significantly different in all three groups, and continence function was significantly correlated to anal canal pressures. By anal ES, the internal (IAS) and the external anal sphincters (EAS) were identified with various amounts of scar tissue in all patients. In patients with high or intermediate anomalies the IAS was missing in the lower part of the anal canal, and abundant scar tissue was identified in the EAS in all patients. In patients with good continence function, the EAS was better preserved than in patients with major incontinence. The position of the anus in the EAS muscle complex was assessed, and varying degrees of eccentrically placed anal canals were identified. Continence function after surgery for ARA is thus correlated to anal canal pressures and ES images. ES, which is painless and suitable for use in children, is a valuable tool for assessing perianal structures, and the findings may serve as a helpful guide for corrective surgery.

[The Norwegian Patient Insurance System. Documentation of patient information and use of medical experts in cases of injuries]. / Norsk pasientskadeerstatning. Dokumentasjon av pasientinformasjon, og bruk av sakkyndige i skadesaker.

Claims for compensation for surgical injuries submitted to the Norwegian System of Compensation for Injuries to Patients were analysed with respect to the written documentation of the case, patient information and the medical experts involved. Documentation of the indication for treatment, the surgical procedures and the injury were good, and acceptable in more than 90% of the case reports. Preoperative information on the patient was only documented in the report in 5% of the cases. There has been some discussion on the way in which medical experts used in the evaluation of patients claims are selected. In order to increase the legitimation of the medical experts we suggest that the Norwegian System of Compensation for Injuries to Patients and the Norwegian Board of Health should consider using the same set of rules for selecting experts. To improve the quality of patients' treatment and for security reasons, the System of Compensations of Injuries to Patients' data on documentation of patient information and categorized reports on the medical errors should be periodically reported to the hospitals.

Somatic function, mental health, and psychosocial adjustment of adolescents with anorectal anomalies.

Thirty-three adolescents (aged 12 to 20 years; median, 15) with a corrected low (n = 17) or high (n = 16) anorectal anomaly were assessed using anorectal physiological examination, semistructured interviews [Child Assessment Schedule [CAS]), and questionnaires (Child Behavior Checklist [CBCL], Youth Self-Report [YSR]). Seven patients, all of whom had low malformations, were totally continent. Twenty-three (70%) had persistent dysfunction with staining (n = 12) or intermittent/constant soiling (n = 11). Twenty-four (73%) had flatus incontinence. Fecal incontinence correlated negatively with anal canal resting pressure (r = - .58, P = <.001) and squeeze pressure (r = -.54, P < .01). Three adolescents had a permanent colostomy. Nineteen patients (58%) met the criteria for a psychiatric diagnosis, and impairment of psychosocial function was found in 24 (73%). The degree of psychosocial impairment correlated significantly with fecal incontinence (F = -.37, P < .05) and flatus incontinence (r = -.49, P < .01). Continence of flatus correlated significantly with mental health symptom scores (YSR: r = .52, P < .01; CAS:r = .53, P < .01). The findings indicated that, in addition to soiling, staining as well as fear of flatus are associated with psychiatric and psychosocial dysfunction among patients with anorectal malformations. Optimal treatment of patients with low and high anorectal anomalies requires somatic and psychological care and follow-up into adulthood.

Fibre density in idiopathic ano-rectal incontinence.

Fibre density (FD) was measured in the external anal sphincter (EAS) in 54 patients with idiopathic anal incontinence and compared to normative data from a control group of 18 patients. The aim of the study was primarily to establish a diagnostic tool which could give an objective analysis of the anal sphincter muscles. Secondly, to examine whether or not FD was correlated to clinical symptoms of incontinence and manometric measurements from the anal canal. Our data show that the FD was increased in patients with anal incontinence and further that FD was correlated to clinical symptoms of incontinence as well as to manometric parameters of the function of the anal canal. In conclusion, we suggest that FD measurement should be used as a routine in patients with idiopathic anal incontinence. FD values will give an objective estimate of the state of denervation/reinnervation present in the EAS. This is particularly valuable in patients being considered for operative treatment since severe denervation of the EAS generally is correlated to a poor result of surgery.

Anal endosonography and physiology in adolescents with corrected low anorectal anomalies.

Sixteen patients aged 12 to 16 years (mean, 14.9) with corrected low anorectal anomalies, and eight age-matched controls were studied. Eight patients were totally continent, six had staining, and two had fecal soiling. Half the patients had trouble with constipation. The grade of incontinence was related to significantly reduced resting and squeeze pressure in the anal canal. Girls had significantly worse results than boys. The anal sphincter muscle complex was visualized by anal endosonography, and images of the external anal sphincter corresponded to the results of the surface electromyography. In addition, anal endosonography provided a detailed picture of all perianal structures including the internal anal sphincter. Anal endosonography supplements other imaging techniques for assessing the perianal structures in patients who have an accessible anal canal.

Progress in the treatment of biliary atresia: a plea for surgical intervention within the first two months of life in infants with persistent cholestasis.

During the period 1984-1991, 21 infants with biliary atresia were treated with Kasai's portoenterostomy. The median survival in infants operated on before the age of 60 days (55 (range 5-82) months) was significantly longer than the survival of children operated on after the age of 60 days (15 (1.5-38) months). At present there are 10 survivors with a median age of 54 (17-96) months; 6 with portoenterostomy and 4 after liver transplantation. Eight patients died of progressive liver failure and 3 died of causes not related to biliary atresia. Apart from blood tests, ultrasonography was the most important investigation before laparotomy in infants with cholestatic jaundice. Scintigraphy and liver biopsy added no further decisive information. Because early diagnosis and surgical treatment is important, only the well documented presence of a normal gallbladder can warrant postponement of an operation.

Current results of surgery for achalasia of the cardia.

Several treatment options are available in the management of achalasia of the cardia. Of a recent series of 14 children, 12 were treated by a modified Heller's myotomy combined with a floppy Nissen fundoplication. Symptoms were dramatically improved in nine during a mean follow up period of 3.9 years. Recurrent oesophageal pain was the most resistant symptom and continued to be moderately severe in three patients, two of whom obtained temporary relief by oesophageal balloon dilatation. Two patients treated by pneumatic dilatation alone have residual symptoms. These results support a primary surgical approach to the management of achalasia in children.