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PubMedDate not supplied

[Ultrasound diagnosis of fetal malformations in utero: apropos of 30 cases].

This study assess the incidence of fetal malformations and the contribution of ultrasound scans to their diagnosis in utero. We reviewed the files of 1,960 pregnant women of whom 30 (1.53%) had malformed fetuses. Ultrasound scanning detected 29 of these cases and failed to detect only one case (an arterial canal malformation). Neurological malformations, particularly hydrocephalus and anencephaly, were most common (12 cases), followed by urinary tract abnormalities (hydronephrosis and renal polycystosis). Other malformations, such as those of the digestive tract, thorax and face, occurred less frequently. Ultrasound scans can be used to decide whether the pregnancy should be continued and what postnatal treatment should be given.

Abortion, Induced↗
PubMed1996

Management of the gastrointestinal tract and nutrition in patients with cloacal exstrophy.

Cloacal exstrophy is a rare condition in which there is a complex set of congenital anomalies that affect multiple-organ systems, including the gastrointestinal tract. Twenty-six patients with cloacal exstrophy have been treated at the authors' institution during the last 20 years. Gastrointestinal features usually included omphalocele, exstrophy of an everted cecal plate, a short blind-ending distal colon, imperforate anus, and, occasionally, a shortened small bowel. Additional gastrointestinal anomalies included four cases of colonic duplication, one duodenal web, and one malrotation. The average time until the initiation of enteral feeding after initial surgery was 15.6 days, and the time until discontinuation of total parenteral nutrition (TPN) was 36 days. One patient with short bowel syndrome died of TPN-associated liver failure. Five other patients exhibited short bowel physiology, but ultimately each was weaned from supplemental intravenous hyperalimentation. Four patients have undergone posterior sagittal anorectoplasty, and one has had perineal anoplasty. Of these patients, two are continent and one is free of soilage on a bowel management program. In the authors' experience with management of the gastrointestinal tract and nutrition in patients born with cloacal exstrophy, many patients initially exhibited short bowel physiology, although most eventually adapted. However, very few patients have been able to achieve bowel control.

Abnormalities, Multiple↗
PubMed1975

[Epidemiological findings in the study of congenital malformations].

Experience with thalidomide and German measles contracted during pregnancy has focused attention on the question of birth defects. It is suggested that good reasons exist for the carrying out epidemiological investigations to establish the true incidence and geographical and social distribution of such deformities, and hence their possibly "environmental" origin at least in some instances. Such investigations would supplement research into experimental teratology. The advantages, disadvantages and limitations of retrospective and prospective investigations are discussed. A detailed account is given of a prospective survey in progress in Israel. Reference is also made to a similar survey being launched in some Italian cities with the aid of the CNR.

Abnormalities, Drug-Induced↗
PubMed1979

Congenital abnormalities in newborns of consanguineous and nonconsanguineous parents.

The aim of this study was to determine the types, patterns, and frequencies of congenital anomalies among newborns of both consanguineous and nonconsanguineous parents in southern Iran. From 9526 consecutive pregnancies observed, 9623 newborns resulted (9431 singleton and 95 sets of multiple gestation). There were 7261 newborns from nonconsanguineous parents and 2362 (24.5%) babies from consanguineous marriages. Of the total pregnancies, 1.54% resulted in malformed children (1.53% of singleton and 2.1% of multiple gestations). The incidence of congenital abnormalities in newborns of nonconsanguineous parents was 1.66% as compared to 4.02% for newborns of the consanguineous group. Major and multiple malformations were found to be slightly more common in the consanguinous group. Prematurity, prenatal mortality rate, and congenital abnormalities were more common in the consanguineous group. Probably the closer the familial relationship of the parents, the greater the chances of congenital abnormalities.

Abnormalities, Multiple↗
PubMed2001

Screening for foetal malformations: performance of routine ultrasonography in the population of the Swiss Canton of Vaud.

OBJECTIVE: To determine the sensitivity of ultrasonography in screening for foetal malformations in the pregnant women of the Swiss Canton of Vaud. STUDY DESIGN: Retrospective study over a period of five years. METHOD: We focused our study on 512 major or minor clinically relevant malformations detectable by ultrasonography. We analysed the global sensitivity of the screening and compared the performance of the tertiary centre with that of practitioners working in private practice or regional hospitals. RESULTS: Among the 512 malformations, 181 (35%) involved the renal and urinary tract system, 137 (27%) the heart, 71 (14%) the central nervous system, 50 (10%) the digestive system, 42 (8%) the face and 31 (6%) the limbs. Global sensitivity was 54.5%. The lowest detection rate was observed for cardiac anomalies, with only 23% correct diagnoses. The tertiary centre achieved a 75% detection rate in its outpatient clinic and 83% in referred patients. Outside the referral centre, the diagnostic rate attained 47%. CONCLUSIONS: Routine foetal examination by ultrasonography in a low-risk population can detect foetal structural abnormalities. Apart from the diagnosis of cardiac abnormalities, the results in the Canton of Vaud are satisfactory and justify routine screening for malformations in a low-risk population. A prerequisite is continuing improvement in the skills of ultrasonographers through medical education.

Central Nervous System↗
PubMed2000

[Diagnosis-related groups and neonatal surgical patients].

Diagnose Related Groups (DRG) are defined on the basis of the principal diagnosis, secondary diagnoses, procedures, age, sex and discharge status, and were developed to improve hospital productivity and efficacy. Existing code systems do not cover all medical specialties equally well; examples are neonatal medicine, cancer treatment and rehabilitation. We have developed a prospective method to measure actual costs related to patients individually. The major element in this method is based upon the hospital stay being divided into types of treatment with different resource requirements: heavy intensive care, light intensive care, intermediate care and ordinary care. In addition, costs related to surgery and other procedures are measured. Our method was used to calculate costs related to neonatal surgery due to various inborn diseases in the gastrointestinal tract and the urinary system. All patients needed immediate care and competent medical intervention. Mean costs for the group was NOK 291,181 while total reimbursement to the hospital was NOK 100,390, resulting in a net negative balance of NOK 190,970. Neonatal surgery does not seem to be adequately covered by the DRG system. This complex patient group provides a comprehensive test of the prospective method, and after evaluation we feel that it can be used in most other patient groups to verify actual cost.

Congenital Abnormalities↗
PubMed1982

A perinatal approach to the diagnosis and management of gastrointestinal malformations.

Ultrasonography now offers the opportunity to evaluate selected high-risk pregnancies for the presence of fetal malformations that are amenable to corrective measures as well as of those that remain incompatible with life. The authors observed major fetal malformations in 1% of 6050 cases that underwent antenatal ultrasonographic evaluation. A series of 9 prenatally diagnosed gastrointestinal tract anomalies, including the first documented instances of esophageal atresia diagnosed in utero, is presented in detail. Abdominal wall defects were those most commonly encountered in this series and were diagnosed as early as 16 weeks' gestation. The gastrointestinal system is not only one of the most common sites of birth defects, but it is also the one wherein lies the greatest hope for a successful neonatal outcome. The value of prenatal diagnosis in a comprehensive perinatal approach to congenital gastrointestinal lesions is emphasized. Forewarning the obstetrician and altering the pediatric-surgical team for resuscitation, immediate postnatal evaluation, and timely intervention decrease neonatal mortality and increase the chance of long-term infant survival.

Abnormalities, Multiple↗
PubMedDate not supplied

[Coexistence of polycystic kidney and other developmental defects. Analysis of autopsy specimens 1953-1985].

The cases of polycystic disease of kidney selected from 33 years postmortem data were presented. They were classified into 4 types (according to Osathanond, Potter and Heptinstall) and the results correlated with accompanying malformations. It has been established that type I of polycystic disease of kidney was mostly correlated with CNS, skull and spine abnormalities. Type II and III were coexisting with genitourinary and ++gastrointestinal system malformations. No type IV of the disease has been found.

Abnormalities, Multiple↗
PubMed2006

Congenital pouch colon: follow-up and functional results after definitive surgery.

PURPOSE: In this study, functional results with regard to fecal continence levels and other parameters were studied in 22 patients with congenital pouch colon associated with anorectal agenesis (CPC) more than 3 years old who had undergone definitive pull-through surgery 1 to 13 years earlier. An attempt was made to formulate treatment protocols for management of fecal incontinence and other problems associated with CPC. METHODS: The study sample consisted of 14 males and 8 females. Three of the 8 female patients had had a cloacal malformation. The medical records of the patients were scrutinized and they were classified into 4 subtypes based on the length of normal colon proximal to the colonic pouch. The patients were further categorized into 3 groups based on the terminal bowel that had been pulled-through, namely, the ileum or colon proximal to the colonic pouch or a tubularized segment of the colonic pouch. The somatic growth of the patients was studied. Clinical assessment of fecal continence was performed by the Kelly and the Kiesewetter and Chang scoring systems. A computed tomographic scan of the pelvis with a barium enema was performed to assess the terminal bowel and its placement as well as the bony and muscular anatomy of the pelvis. The urinary system was assessed by a clinical history as well as by abdominal ultrasound and a micturating cystourethrogram. Various treatment modalities including dietary modifications, drugs, and enemas were instituted in patients with poor continence levels, and the response to treatment studied. RESULTS: Thirteen patients (59.2%), all with an ileal pull-through, had height and weight less than 50% of that expected for their ages. Overall fecal continence was "poor" in 17 patients and "fair" in only 5 patients. Patients with pull-through of either ileum or normal colon often had very frequent passage of liquid or semisolid stools, whereas the 4 patients with pull-through of tubularized colon had infrequent passage of semisolid stools with abdominal distension and bloating. One of these 4 patients had massive colonic redilatation necessitating surgical correction. Mucosal prolapse and perineal excoriations were frequent findings. Ultrasonography and micturating cystourethrogram showed hydroureteronephrosis and vesicoureteric reflux in 5 patients. Radiologic assessment revealed that there were no significant sacral abnormalities and the striated sphincteric musculature was well developed, although the levator ani was thinner than normal in 15 patients (68%). The bowel was very well placed in the sphincteric complex in 19 patients (86%). In 7 of the 13 patients who had pull-through of normal ileum or colon, some improvement in continence levels was seen 3 to 6 months after institution of dietary measures, loperamide, and saline-water enemas. Two of 3 patients with pull-through of tubularized colon improved to some extent with colonic washouts alone. Overall, quality of life was poor in the 22 patients. CONCLUSIONS: Despite the fact that the sacrum is usually normal, the sphincteric musculature well developed, and the terminal bowel well placed without any anal strictures, long-term prognosis with regard to fecal continence, growth and development, and quality of life appears to be dismal for all subtypes of CPC, irrespective of the type of definitive surgery performed. Corrective measures also appear to be of limited value. Various newer management modalities for management of fecal incontinence may be considered, but in several patients a permanent abdominal stoma may be a more practical solution.

Adolescent↗
PubMed1975

Congenital defects of the gastrointestinal tract and abdominal wall. A three-year review.

One hundred forty-four infants with anomalies of the gastrointestinal tract and abdominal wall were treated at Children's Memorial Hospital between July 1970 and July 1973. The overall mortality, including unoperated infants and those dying from other causes up to six months later, was 17%. Associated defects, particularly of the heart and CNS, were the most common causes for death. Many infants were premature; however, this factor alone did not contribute to mortality. Differences in surgical technique did not affect mortality in patients with esophageal atresia, but one baby with total aganglionosis of his colon and two with gastroschisis may have survived with different modes of therapy. Although previous advances in pediatric surgery contributed to the overall good results in these infants, parenteral alimentation emerged as the single most important factor in improved survival during this study period.

Abdominal Muscles↗
PubMed1993

Long term survival of an infant with sirenomelia.

We report on a 3-month-old infant whose sirenomelia was diagnosed prenatally. The infant is neurologically normal and has "fusion" of the lower limbs with associated renal dysplasia, imperforate anus, pelvic and sacral "dysplasia," and genital abnormalities. In addition she has a preauricular skin tag and rib fusion. The infant's anomalies are compatible with life and surgical separation of the lower limbs is planned.

Abnormalities, Multiple↗
PubMed1980

Multiple congenital anomalies associated with infantile achalasia.

Achalasia is rare in the pediatric age group, particularly in the neonate and young infant. The symptoms are often nonspecific and may not even suggest a primary esophageal disorder. This is a report of two cases of achalasia seen in neonates, both of whom has other unusual and exceedingly uncommon congenital abnormalities.

Abnormalities, Multiple↗