Major Associated Malformations Research Articles

Does a Nonreassuring Fetal Heart Rate Pattern Impair Renal Function in Neonates Prenatally Diagnosed with Congenital Anomalies of the Kidneys and Urinary Tract?

This study aimed to determine the effect of nonreassuring fetal heart rate (NRFHR) patterns in labor on the postnatal renal function of neonates with a prenatal diagnosis of congenital anomalies of the kidney and urinary tract (CAKUT). A retrospective cohort study was conducted in a single tertiary referral center between 2012 and 2020. All cases with a prenatal diagnosis of CAKUT were extracted, and their fetal, maternal, obstetrical, and neonatal characteristics were analyzed. Cases of multiple gestations, preterm delivery, small for gestational age, major associated malformations or genetic aberrations, and prelabor acute obstetrical events were excluded from the analysis. The study group was comprised of patients who experienced NRFHR during labor. The control groups included (1) patients who had a trial of labor with a normal fetal heart rate pattern and (2) patients who delivered by elective cesarean section (CS). The primary outcome was abnormal serum creatinine levels in the perinatal period. For statistical purposes, the CAKUT cases were classified into a low and high estimated risk for an abnormal postnatal renal outcome. A subgroup analysis of the results was performed accordingly. Two hundred and fifty-six fetuses diagnosed prenatally with CAKUT comprised the study group. Among these, 214 women (83%) opted for a labor trial, while 42 (17%) chose elective CS. Within the labor trial group, 21/214 patients (9.8%) experienced NRFHR during labor. Analysis of maternal and fetal characteristics revealed no statistically significant disparities between the groups. NRFHR patterns were not associated with a deterioration in neonatal serum creatinine compared with those with normal fetal monitoring or those born by an elective CS. NRFHR patterns during labor and delivery did not impair neonatal renal function status in fetuses diagnosed prenatally with low- and high-risk CAKUT. Delivery can be managed according to standard obstetrical guidelines. · Kidneys affected by CAKUT commonly display renal dysplasia and a reduction in nephron mass.. · Low Apgar scores and asphyxia are recognized as risk factors for perinatal acute kidney injury.. · Lack of research on NRFHR impact on perinatal renal function in prenatally diagnosed CAKUT.. · NRFHR patterns during labor did not impair neonatal renal function status in prediagnosed fetuses..

Early outcome analysis of Gastroschisis from a high-volume tertiary care institute in India: A prospective observational study

Background: Gastroschisis is one of the common congenital anterior abdominal wall defects with uncovered abdominal contents (usually intestines) protruding through it. Immediate reduction of the abdominal contents is crucial after birth because of the grave consequences of delayed management. The aim of our study was to evaluate the early outcomes of Gastroschisis at a tertiary care institute in India. Methods: This prospective observational study was undertaken over a one-year duration extending from January to December 2021 at our pediatric tertiary care teaching institute. Results: There were 30 male and 28 female patients, out of which 37 were preterm neonates. The mean birth weight was 2019±357g. Seven patients (12.07%) had major associated malformations. Fifty (86.21%) patients underwent primary skin flap closure. Staged reduction with silo was accomplished in five (8.62%) patients; three patients died during resuscitation before any therapeutic procedure could be undertaken. Among 55 (94.83%) patients with surgical procedures, only 26 (47.27%) could be salvaged with overall favorable (survival) outcomes in 44.83% of patients. Mortality was high (92.59%, 25/27) in the patients presenting with markedly edematous bowel with leathery peel. Seventeen (29.31%, 17/58) neonates died in the first 72 hours (postoperatively) due to complications of abdominal compartment syndrome, eight (13.79%) patients died due to postoperative sepsis with thrombocytopenia, and two (3.44%) had intestinal perforation. The duration of hospital stay in neonates who survived ranged from one to four weeks. Conclusion: Overall survival rates in our study were 44.83% markedly in contrast to the series published in the recent literature. The outcome of preterm (premature) patients, associated intestinal atresia, presence of edematous bowel with leathery peel, patients requiring silo due to viscero-abdominal disproportion, necrotizing enterocolitis, and associated malformations, was dismal.

Hydrocephalus in pediatric patients: A clinical audit

Background: Ventriculoperitoneal (VP) shunt surgery is the most common procedure for treatment of hydrocephalus. The clinical outcomes of hydrocephalus patients following VP shunt surgery should be periodically appraised.Aims: To analyze and perform a clinical audit of management of hydrocephalus patients according to the standards of quality care; suggest interventions to make further improvements.Material and Methods: A retrospective study performed from January 2016 to December 2016. Pediatric patients with hydrocephalus who had undergone VP shunt surgery and those presenting with its complications were studied.Results: There were 142 pediatric patients with 103 males and 39 females (M:F = 2.64: 1). Age ranged from 1 day (youngest) to 12 years (oldest); 47.89% (68) of the patients were between ≥1 to <6 months. Out of 142, 72.54% (103) were new admissions and 27.46% (39) were admitted for shunt related complications. Congenital malformations were the most common (59.86%) reasons for admission. Meningomyelocele and Encephalocele were the most common (2.11%) major associated malformations. In 72.54% (103) patient's new VP shunt placement was performed, while in 8.45% (12) cases, complete revision by shunt placement on left side was performed. Low pressure type of VP shunt was the most common (77.39%) procedure.Conclusions: Approximately one fourth (27.46%) of the procedures performed for patients with hydrocephalus were for shunt related complications. Clinical audit helps to identify the complications and lacunae, develop effective methods for improvement in patient care. It gives an impetus to decrease the complications associated with it. We recommend a yearly clinical audit of pediatric patients managed with VP shunt surgery.

The DATE Association: A Separate Entity or a Further Extension of the VACTERL Association?

The combination of esophageal atresia, congenital duodenal obstruction, and anorectal malformation has seldom been reported. We describe the largest series of patients with such association, which we summed up with the mnemonic acronym DATE [D-duodenal obstruction, A-anorectal malformation (ARM), and TE-tracheoesophageal fistula with esophageal atresia]. This was a multicenter retrospective review of 13 patients recruited from 8 institutions over a nearly 5-decade period (1968-2017). Information gathered included type of DATE malformations, other associated anomalies, type and timing of surgery, and clinical outcomes. The DATE association consisted of type C esophageal atresia (13), complete (9) or incomplete (4) congenital duodenal obstruction (CDO), and high or intermediate (8) or low (5) ARM. Eight patients had at least one additional component feature of VACTERL association. A total of 6 patients died. Overall, 9 patients achieved complete restoration of gastrointestinal continuity, 7 of whom are alive at a median follow-up of 4y (range, 1 to 9). Survivors received a median of 6 major operations (range, 4 to 14) to overcome their anomalies and surgical complications. Two incomplete duodenal obstructions were initially overlooked. All survivors with high or intermediate ARM defects required some form of bowel management to keep them clean. The DATE association is a low-frequency entity, often occurring among the wider spectrum of VACTERL association. Functional outcomes largely depend on the severity of ARM or other major associated malformations. Awareness of the DATE association may avoid untoward diagnostic delays of subtler component features of the spectrum, such as an incomplete CDO.

Maternal and fetal risk factors for bladder exstrophy: A nationwide Swedish case-control study

Bladder exstrophy is a rare, congenital, complex malformation where the underlying cause is largely unknown. Both environmental and genetic mechanisms are thought to be involved. There are divergent results concerning the prevalence, birth descriptive data, and potential maternal risk factors for bladder exstrophy. Few previous studies have reflected nationwide populations, population registers, or spanned a longer period of time. To describe and assess bladder exstrophy and the potential maternal risk factors, for a time period of four decades, by conducting a nationwide register study of bladder exstrophy in Sweden. A matched-design, case-control, linkage-analysis study nested within the entire pool of live births in Sweden between 1973 and 2011 was performed. Cases with bladder exstrophy were identified using nationwide population-based birth and health registers. Inclusion criteria were people born in Sweden with the classification of bladder exstrophy according to the ICD coding system. Cases were matched with five controls per patient, based on birth year and sex. Prevalence was assessed and birth descriptive data were compiled. Potential maternal risk factors were obtained from medical birth registers of cases and assessed using conditional and multivariate logistic regression models to obtain odds ratios as a measure of the relative risk. Classification of the diagnosis in the registers constituted a possible limitation for determining the correct study population, which demanded strict validation and inclusion criteria. All data were collected prospectively, thereby avoiding potential recall bias. The prevalence was calculated to be approximately 3 per 100,000 live births, with a male-to-female ratio of 1.14:1. In 92.5% of the cases, bladder exstrophy was an isolated malformation without associated major malformations. However, 41% had had surgery for congenital inguinal hernia and 11% of the male subjects had been operated on for cryptorchidism. A significantly higher proportion of cases had a birth weight <1500g compared with controls, but other characteristics were comparable with controls. High maternal age was the only significant potential associated maternal risk factor. One hundred and twenty children born with bladder exstrophy in Sweden during the last four decades were identified; this resulted in prevalence in Sweden of 3 per 100,000. The prevalence was stable over time and the sex ratio was equal. Birth characteristics were comparable to controls, and bladder exstrophy generally occurred as an isolated malformation without major associated malformations. Advanced maternal age was the only significant potential maternal risk factor.

The results of a two-stage double switch operation for congenital corrected transposition of the great arteries with a deconditioned morphologically left ventricle.

The purpose of this retrospective study was to evaluate a two-stage double switch operation, morphological left ventricular (mLV) retraining followed by an atrial-arterial switch operation, in the management of patients with congenitally corrected transposition of the great arteries (CCTGA) and a deconditioned mLV. Between May 2005 and May 2011, 14 patients with CCTGA and a deconditioned mLV anomaly underwent the two-stage double switch operation. There were eight males and six females aged between 2.5 and 72 months (mean: 34.4 ± 24.0 months) old and weighing from 5 to 23 kg (mean: 12.7 ± 4.9 kg). The major associated malformations included: tricuspid regurgitation (TR, n = 13); restrictive ventricular septal defect (n = 10); atrial septal defect or patent foramen ovale (n = 7); mild pulmonary stenosis (n = 5) and patent ductus arteriosus (n = 4). These patients underwent morphological left ventricular retraining by means of pulmonary artery banding under general anaesthesia, which was then followed by a double switch operation under general anaesthesia and cardiopulmonary bypass. There were no deaths or complications during the hospital stay or follow-up for the mLV retraining. In comparison with preoperative conditions, the mLV end-diastolic diameter (mLVEDd), the posterior wall thickness of the mLV and the mLV/mRV pressure ratio were all increased; the interventricular septum had moved partially to the midline position and TR had decreased. After the atrial-arterial switch procedure, 2 patients died during the perioperative period. The causes of death included serious cardiac arrhythmia with circulatory collapse and sudden death. The others were followed up for 2-8 years: 1 patient died from serious cardiac arrhythmias with circulatory collapse in the follow-up period. With regard to the others, 8 were evaluated as New York Heart Association Functional Class I, and the other 3 as Class II. Moderate aortic valve regurgitation was noted in 3 patients and moderate mitral regurgitation in 1 patient. For CCTGA children with degraded mLV, the two-stage double switch procedure can be performed with low mortality and morbidity and may be an appealing alternative to conventional repair. mLV retraining should be performed as early as possible. The second-stage atrial-arterial switch procedure showed satisfactory early and mid-term results. More attention should be paid to the long-term function of the mLV and the aortic valve.

Congenital diaphragmatic hernia: an evaluation of risk factors for failure of thoracoscopic primary repair in neonates

Publications aiming to prove the feasibility and safety of thoracoscopic CDH-repair in neonates grow in numbers. Some teams use selection criteria, but none have proven statistical evidence. The aim of this study is to detect risk factors for failure of thoracoscopic primary closure of CDH in neonates. In 8 centers performing minimal access surgery (MAS), complete prenatal, postnatal, and operative data were evaluated for a retrospective study concerning patients with thoracoscopic congenital diaphragmatic hernia (CDH) repair. Most of the selection criteria and risk factors mentioned in the literature were analyzed. Two groups were defined: Group A - neonates who tolerated thoracoscopic primary repair, and Group B - neonates who required conversion or presented with major complications after thoracoscopic repair. Univariate and multivariate logistic regressions were used to compare these two groups. From 2006 to 2010, thoracoscopy was performed in 40 neonates: Group A consisting of 28 neonates, and Group B 9 patients. Three patients were excluded because of insufficient data or major associated malformations. Significant statistical differences were found in Group B for postnatal PaCO2 >60 mmHg, need of iNO during postnatal stabilization, intrathoracic position of the stomach, pulmonary hypertension signs on the postnatal cardiac ultrasound, and preoperative OI >3.0. On multivariate analysis, only an OI >3.0 was significantly associated with conversion or major post-operative complication of thoracoscopic primary repair. CDH can be safely repaired in the neonatal period by thoracoscopy. The limiting factor for thoracoscopic CDH repair is PPHN. The best preoperative indicator for PPHN is OI. Prospective studies are nonetheless necessary to prove the effectiveness of using these risk factors as selection criteria to help design surgical management protocols for neonates presenting CDH.

Right congenital diaphragmatic hernia: an 18-year experience

Prenatal diagnosis and outcome of right congenital diaphragmatic hernia (RCDH) are far less well known than the more common left CDH (LCDH). In addition, onset of RCDH beyond the neonatal period with a spectrum of atypical symptoms is not unusual. A retrospective analysis of RCDH treated at a single center over 18 years has been reviewed with regard to outcome after the introduction of a new treatment protocol for CDH. All charts of patients with CDH between 1987 and 2004 were reviewed. Twenty-nine patients with RCDH were identified. The patients were divided into 2 historical groups: group 1, from 1987 to 1998 (16 patients), and group 2, from 1999 to 2004 (13 patients). From 1999, at the Department of Pediatric Surgery of Padua, the management of a baby born with CDH has been standardized and includes planned delivery at term, high-frequency oscillatory ventilation since birth, inhaled nitric oxide if required, extracorporeal membrane oxygenation as a "last resort," and delayed repair once the infant is hemodynamically stable. Patients with either prenatal diagnosis of RCDH or early onset of symptoms (<6 hours of life) were considered "high risk," and those with late onset (>6 hours) were considered "low risk." Of 29 patients, prenatal diagnosis was available in 8 (27.5%) and major associated malformations in 8 patients (27.5%). Eight (50%) of 16 cases from group 1 and 9 (69.2%) of 13 cases from group 2 were high-risk patients. There was a trend in favor of a higher survival among high-risk patients from group 2 (25% vs 44%), although this was not statistically significant. As expected, all low-risk patients survived (P = .0001). Plain thorax x-ray was diagnostic in 23 (82.1%) cases, initially normal in 3, not performed in 1, and misinterpreted as right lower lobe pneumonia in 2. At operation, the prosthetic patch was required in 2 (9%) of 22 cases and the peritoneal sac was found in 4 (13.7%). (1) The rate of prenatal diagnosis of RCDH was low and remained stable throughout the examined period. (2) The introduction of a treatment protocol, using high-frequency oscillatory ventilation since birth, improved the survival of high-risk patients with RCDH, although the data did not reach statistical significance. (3) The majority (75%) of low-risk patients presented beyond the first week of life with a variety of aspecific gastrointestinal or respiratory symptoms that accounted for initial misdiagnosis. (4) Even in these cases, the outcome was excellent.

Long-term follow-up of children with prenatally diagnosed omphalocele and gastroschisis.

The aim of this study was to follow up the 19 infants born in Tyrol province with abdominal wall defects between 1985 and 1996 whose malformation had been diagnosed prenatally, who were operated on immediately postpartum and who are alive today. There were seven children in the omphalocele group and 12 in the gastroschisis group; 18 parents of affected infants took part in the study. Four out of seven children with omphalocele had major associated malformations (two Beckwith-Wiedemann syndrome, one porencephalic cyst, one with skeletal defects). These children presented handicaps related to the associated malformations but not to the abdominal wall defect. The three other children with omphalocele are developing normally. Five out of 11 children with gastroschisis had associated intestinal but no extraintestinal malformations. After discharge, ten of 11 children with gastroschisis were developing normally; one child shows signs of mental retardation. Of 14 mothers who had originally planned another pregnancy prior to the birth of the malformed child, nine decided against becoming pregnant again; the others delayed a further pregnancy for several years. In our group, associated malformations were the main factor affecting the long-term quality of life of children with omphalocele and gastroschisis. Although most of the children were developing normally, fear of a repetition of the malformation in a subsequent pregnancy dominated reproductive choices in all couples.

Jejunoileal atresia and associated malformations: Correlation with the timing of in utero insult

Duodenal atresia is associated with a higher incidence of associated congenital malformations than jejunoileal atresia, supporting the hypothesis that the duodenal obstruction occurs early in fetal life. In this study, the authors analyzed the incidence of major associated malformations in jejunal atresia (JA) and ileal atresia (IA) to determine if there is a positive correlation between the proximity of the intestinal atresia and the association of other major anomalies. Records of all patients with jejunoileal atresias treated at the authors' institution between 1980 and 1997 were examined. There were 83 patients with jejunoileal atresias, 38 with JA, and 45 with IA. Sixteen (42%) of the JA patients had an associated major congenital malformation, whereas only 1 (2%) of the IA patients had an associated malformation. A single atresia was found in 18 (47%) of JA patients and 41 (91%) of IA patients. Twenty (53%) of the JA patients had either multiple or apple-peel atresia. Thirteen patients (16%) died, 11 with JA, and 2 with IA. Of the 11 patients with JA who died, 6 had multiple atresias, 4 had cystic fibrosis, and 1 had small bowel volvulus. The higher incidence of associated major congenital extraintestinal malformations in JA compared with IA patients suggests that some cases of JA may arise from a malformative process.

Factors contributing to poor results of treatment of esophageal atresia in developing countries

The results of treatment of 341 consecutive cases of esophageal atresia/tracheoesophageal fistula over an 11-year period have been analyzed to determine the factors resulting in a poorer prognosis of these cases in a developing country; 121 neonates in the first 6-year period are compared with 220 in the last 5 years. In the latter group only 8% were in Waterston's group A; 46% reached the hospital within 24 h of birth, 13% were normothermic on presentation, 70% had a chest infection, and 28% had major associated malformations. This was similar to the preceding 6-year period. In the last 5 years the overall mortality was 58%, compared to 67% in the preceding 6 years. Despite improvement in survival in the last 5 years, the overall survival is far inferior to that reported from the developed countries. The factors resulting in poorer results have been analyzed and remedial actions suggested.

Bilateral diaphragmatic hernia

Bilateral congenital diaphragmatic hernias are extremely rare; only 12 cases have been reported in the literature. We report six further cases of this rare malformation. The condition is invariably fatal. Only 3 of the 18 cases have survived and these 3 had hernial sacs. Four of our six cases had major associated malformations.

Spondylo-costal dysplasia. A further report--review of 14 cases.

Fourteen patients with spondylo-costal dysplasia were analysed. 3 of them presented without obvious associated anomalies "pure" spondylo-costal dysplasias; 2 had several components consistent with Vater (Vacterl)-Association; 2 showed malformations which are often encountered in Vater (Vacterl)-Association; 4 presented with minor malformations; 3 had major associated malformations rarely seen in Vater (Vacterl)-Association. Thoracic spine and costal malsegmentation can be sporadically observed in other "errors in septation complex" (axial mesodermal dysplasia) including severe myelomeningocoele and diastematomyelia.

A new familial syndrome of 46,XY gonadal dysgenesis with anomalies of ectodermal and mesodermal structures

Two 46,XY phenotypic female siblings, aged 1 1/2 and 8 1/2 years, have peculiar facies, cardiac, renal, musculoskeletal, and ectodermal anomalies, short stature, streak gonads, and mild developmental delay. Previous reported cases of 46,XY gonadal dysgenesis have not had major associated malformations. These children present a new constellation of anomalies unlike those seen in other types of gonadal dysgenesis and represent a new familial syndrome of 46,XY gonadal dysgenesis.

Long-term follow-up of patients after valvotomy for congenital valvular aortic stenosis in children: A clinical and actuarial follow-up

Twenty-five infants and 161 children have undergone aortic valvotomy at the Hospital for Sick Children, Toronto, between 1956 and 1975. For infants (under 1 year) the early surgical mortality rate (within 1 month) is 52% (13/25) and that for children is 1.9% (3/161). The mean follow-up for the respective groups of survivors is 4.1 and 7.0 years (range 1/2 to 16 years). To date two of the infants required reoperation with no late deaths and 20 of the 148 children with follow-up have required reoperation with a surgical mortality rate of 20%. A further five (3.4%) patients have died. Infective endocarditis occurred in six patients (4.0%). Actuarial analysis shows an “incident-free” probability in excess of 85% at mean follow-up, and a survival probability much better than this. The clinical status of the infant group is good except for one patient with aortic regurgitation after valvoplasty and one with mild exercise intolerance. Of the 123 children who have not had reoperation, 115 have good exercise tolerance, four have some limitation of exercise tolerance, two require reoperation, and two have minor symptoms. Bicuspid aortic valve was present in 72 (49%) children and other lesions were infrequent. Major associated malformations were common in the infant group and their presence quadrupled the early mortality rate of 82% versus 21% for infants with isolated aortic stenosis. Aortic valvotomy is a palliative operation offering good temporary relief for the majority of patients.

Repair of Complete Atrioventricular Canal Associated with Tetralogy of Fallot or Double-Outlet Right Ventricle: Report of 10 Patients

Ten patients with complete atrioventricular (AV) canal and tetralogy of Fallot or double-outlet right ventricle (DORV) with subaortic ventricular septal defect and pulmonary stenosis underwent complete repair. Associated cardiac anomalies were frequent, and 3 patients had situs ambiguus and 1 had situs inversus. Two (40%) of the 5 patients with comple AV canal and tetralogy of Fallot died in hospital, as did 3 (60%) of the 5 with complete AV canal and DORV. No deaths occurred among the 4 patients in whom repair could be done without using a transannular patch across the pulmonary valve ring or a valved external conduit. Five (62%) of the 8 without major associated malformations survived. Preoperative study must define completely the malformation. The repair, done through the right atrium alone or in combination with a right ventriculotomy, is most easily accomplished with separate patches for the ventricular and atrial components of the septal defect.

The further epidemiological differentiation of cleft lip and palate: a population study of celfts in King Country, Washington, 1856-1965.

AbstractA retrospective epidemiological study of cleft lip and palate in King County, Washington, between 1956 and 1965 is reported. Multiple sources of ascertainment were employed, and particular attention was given to obtaining information concerning other associated malformations. Occurrences of cleft lip (CL), cleft lip and palate (CL + P), and cleft palate (CP) were analyzed by sepa rate categories, depending on the presence or absence of associated major or minor malformations. The results strongly indicated that clefts with associated malformations are different epidemiological entities from pure clefts. Sex‐ratio reversals occurred for some categories with associated malformations. In contrast to the usual male excess of CL ± P, there was a female excess of CL ± P with major associated malformations. In contrast to the usual female excess of CP, 49% of children with CP with associated malformations were male. No maternal‐age effect was observed for any “pure” cleft category, but significant “U‐shaped” maternal‐age distributions were seen for CL + P with associated major malformations, CP with associated major malformations, and CP with all associated malformations. Increased frequency of low birth weight and infant mortality were confined to categories with associated malformations. No significant birth order, season, secular change, or time–space clustering effects were observed. The incidence rate for all clefts was 1.84/1000 live births.