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At least 667 records · Page 37Linked to original sources
PubMed1997

The effect of oligohydramnios on detection of fetal anomalies with sonography.

OBJECTIVE: The sonographic examination of fetuses is generally thought to be compromised when oligohydramnios is present because of the subjective impression of less adequate visualization of fetal anatomy. The aim of this study was to evaluate the extent to which oligohydramnios limits our ability to detect major anomalies on sonograms. MATERIALS AND METHODS: Records from the University of California, San Francisco from March 4, 1989 through January 4, 1994, were reviewed to identify all cases of premature rupture of the membranes in patients who then underwent nontargeted sonography. Sonographic results in pregnancies with oligohydramnios and without oligohydramnios (control population) were compared. Follow-up was obtained from a perinatal database, autopsy reports, and medical records. RESULTS: We found 345 patients with a history of premature rupture of the membranes (175 with oligohydramnios, 170 without oligohydramnios). Gestational age of fetuses was 16-38 weeks. Major congenital anomalies, including hydronephrosis, ventriculomegaly, intestinal atresias, hydrops, congenital diaphragmatic hernia, skeletal dysplasias, cloacal malformations, and gastroschisis, were revealed on sonography in 13 of 175 pregnancies with oligohydramnios and in 17 of the 170 pregnancies in the control group. Major anomalies missed in the oligohydramnios group included cardiac anomalies, club foot, small ventral hernia, limb reduction defect, and anal atresia. Major anomalies missed in the control group were club foot, anal atresia, and tracheoesophageal fistula. All of the major anomalies missed in both groups were of the type that are known to be difficult to diagnose before birth and that are frequently missed on sonography. CONCLUSION: Although oligohydramnios subjectively degrades image resolution, sonography still reveals important fetal anatomic landmarks. Major anomalies can be detected on sonography even when the pregnancy has less than the normal amount of amniotic fluid.

Case-Control Studies↗
PubMed1999

Perlman syndrome: four additional cases and review.

Perlman syndrome was first described in 1973 and comprises nephromegaly with renal dysplasia and Wilms tumor, macrosomia, cryptorchidism, and multiple facial anomalies. Polyhydramnios and hypoglycaemia are often found. Twelve children have been described from six different families. Five came from one family whose Yemenite Jewish parents were second cousins. Autosomal recessive inheritance has been suggested. Prognosis is severe with neonatal death in most children. We report on 4 new cases of Perlman syndrome from 3 families; all parents were non-consanguineous. Some of the observed manifestations have been described only once in this syndrome (cardiac defect, hepatic fibrosis with portoportal bridging, haemangioma) or never before (volvulus, intestinal atresia, and agenesis of the corpus callosum in 1 patient, a cleft palate in another). All children died within the first year. The 2 sibs were born prematurely with nephromegaly but without hamartomas or nephroblastomatosis. This is consistent with the hypothesis that dysplastic medullary parenchyma in preterm infants develops into nephroblastomatosis and hamartoma and eventually Wilms tumor.

Abnormalities, Multiple↗
PubMedDate not supplied

[Prenatal intestinal invagination. Presentation of a case and review of the literature].

We report a case of intrauterine intussusception in a female newborn. Despite the absence of intestinal atresia or any sign of ischemic necrosis, the manual reduction of the intussusception was impossible because of the multiple adhesions developed in the prenatal period. Laparotomy was done at the age of 10 days, the lesion was resected and end-to-end anastomosis was performed. The postoperative course was uneventful.

Female↗
PubMed2002

[Prenatal diagnosis of congenital anomalies requiring surgical management in the Lower Silesia--fact or fiction?].

In order to assess the current status of prenatal diagnosis of congenital anomalies requiring surgical management in the area of Lower Silesia, a retrospective study of medical charts of all neonates admitted to the Department of Paediatric Surgery in Wrocław between 1997 and 2000 was undertaken. 218 babies affected by anomalies detectable antenatally by conventional ultrasound scan were subjected to the further study. Neural tube defects and abdominal wall defects were the most common and were diagnosed in 63 and 38 children respectively. The incidence of other congenital anomalies; hydrocephalus, oesophageal, duodenal and intestinal atresia, diaphragmatic hernia and urinary tract anomalies was similar in each group. The suspicion of anatomical defect or its precise recognition was made antenatally in 52 pregnancies (23.8%). The highest rate of positive prenatal diagnosis was noted among babies with hydrocephalus (50%) and urinary tract anomalies (42.8%). In other groups this rate was significantly less. Critical analysis of postnatal management in studied cases revealed that the babies with atresia of gastrointestinal tract, congenital diaphragmatic hernia and abdominal wall defects were negatively affected by a lack of prenatal recognition of the defect. Moreover, in more than 40% of all analysed pregnancies presence of risk factors (positive family history, course of pregnancy, mother's age, polyhydramnios, oligohydramnios, previous abnormal pregnancies) were identified that should have prompted an obstetrician to a through diagnostic evaluation of the foetus. The obtained results clearly indicate the necessity for the elaboration of a new protocol of antenatal care of pregnant women in the Lower Silesia. In case of suspected anomaly amenable to operative correction within the first days of life, paediatric surgeon should be an active member of a specialist team responsible for care of mother and her baby.

Congenital Abnormalities↗
PubMed2002

Congenital malformation of the gastrointestinal tract in Aseer region, Saudi Arabia.

OBJECTIVE: The aim of this prospective study was to evaluate the prevalence and pattern of congenital malformations of the gastrointestinal tract among the Saudi newborn population in Aseer region, Kingdom of Saudi Arabia. METHODS: Every consecutive newborn admitted to the neonatal intensive care unit of Aseer Central Hospital, Kingdom of Saudi Arabia with features of gastrointestinal tract anomaly during the period January 1995 to December 2000 had relevant data obtained and entered into a program form. RESULTS: During the 6 year period, a total of 1386 Saudi infants were admitted into the neonatal intensive care unit of Aseer Central Hospital. Of these, 12.4% were confirmed to have congenital malformation of the gastrointestinal tract; male/female ratio of 1.7:1. The total number of live births by Saudi mothers in Aseer region during the period was 128,093, giving an incidence rate of 1.3 per 1000 live births. The 172 newborns presented with 174 anomalies of the gastrointestinal tract. The leading malformations were imperforate anus (78 cases or 44.8%), tracheosophageal fistula/atresia (42 cases or 24.1%) and intestinal atresia (37 cases or 21.3%). Other lesions included Hirschsprung's disease (14 cases or 8%) and stenosis (2 pyloric and one duodenal) (1.7%). Some patients had more than one defect within the tract (1%) and multisystemic defects (23%). The overall fatality rate was (12%), due largely to post-operative infection (75% of cases) and multiple anomalies (25% of cases). CONCLUSION: The prevalence of congenital defect of the gastrointestinal tract in Aseer region appears to be high. The incidence of associated multisystemic anomalies is also high. Fatality incidence is influenced by post-operative sepsis and associated multiple defects. A high incidence of consanguineous marriage in the region may be the underlying etiological factor hence genetic counseling may be helpful.

Digestive System Abnormalities↗
PubMed2003

Meconium peritonitis in utero: prenatal sonographic findings and clinical implications.

BACKGROUND: Prenatal ultrasound scans reveal variable features of fetal meconium peritonitis. For better understanding of the natural history and postnatal prognosis of meconium peritonitis, we clarified the significance of ultrasound findings in the outcomes of fetuses with meconium peritonitis. METHODS: Between 1991 and 2001, fetuses who underwent evaluation for meconium peritonitis were retrospectively analyzed. The diagnosis was made by intra-abdominal calcifications, meconium pseudocyst, or meconium ascites, which were postnatally confirmed by the operative findings and/or abdominal plain films. According to the final ultrasound findings before labor, patients were classified into 3 groups: type I, large meconium ascites; type II, a large pseudocyst; type III, intra-abdominal calcifications, small meconium ascites and/or a shrinking pseudocyst. RESULTS: Nineteen fetuses (6 boys and 13 girls) were collected. Mean gestational age at diagnosis was 29.1 +/- 5.3 weeks and mean follow-up before delivery was 7.5 +/- 6.2 weeks. Mean gestational age at birth was 36.8 +/- 6.2 weeks. Six fetuses (31.5%) were delivered before 37 weeks of gestation. Type I was found in 5 (26.3%), type II in 3 (15.8%), and type III in 11 (57.9%). Intra-abdominal calcifications were identified in 15 cases (78.9%), polyhydramnios in 4 (21.1%), and oligohydramnios in 3 (15.8%). Cardiopulmonary resuscitation at birth was required in 2 cases (type I). Twelve cases (63.2 %) were spontaneous perforations. Of 7 other cases (36.8%) studied, 6 had intestinal atresia and 1 had associated defects resulting in bowel perforation. Postnatal follow-up revealed all but 2 (died of sepsis and prematurity, respectively) doing well. CONCLUSIONS: Our results indicate that detailed fetal ultrasound scans are crucial for providing a prenatal diagnosis and proper perinatal management of meconium peritonitis. From the viewpoints of our study, proper prenatal counseling and risk evaluation should be offered to the parents of the fetuses with meconium peritonitis.

Adult↗
PubMed1992

[Accidental ultrasonographic disclosure of isolated intra-abdominal fetal hyperechogenicity. Apropos of a series of 87 cases].

Having seen 87 cases we will now attempt to refine the management to be carried out when intra-abdominal hyperechogenic masses are found in the fetus. Before the 20th week of amenorrhoea (47 cases) amniocentesis can be used to study the digestive enzymes to determine the fetal karyotype. The normal results for intestinal enzymes makes it possible to rule out fetal cystic fibrosis. Three karyotype abnormalities were found in this series. After the 20th week (40 cases) intestinal enzymes cannot be interpreted. The diagnosis of cystic fibrosis then must rely on Delta F 508 mutation; but the absence of this mutation does not exclude cystic fibrosis. When ultrasound signs of intra-abdominal hyperechogenicity are found the diagnosis of cystic fibrosis should not be thought of first, because in this series the majority of fetuses who had this sign were born without any malformation. Four cases of cystic fibrosis that were confirmed have been found but equally there were other serious malformations, three chromosome abnormalities, four intestinal atresias, ten unexplained intra-uterine deaths and one case of biliary duct atresia.

Amniotic Fluid↗