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Biomedical subjects

M E Furness

Publications and source records attributed to M E Furness.

At least 19 recordsLinked to original sources

Antenatal betamethasone and favourable outcomes in fetuses with 'poor prognosis' diaphragmatic hernia.

Congenital diaphragmatic hernia (CDH) is a common abnormality affecting 1 in 2,000 gestations. The mortality exceeds 50% despite recent advances in postnatal treatment. The widespread antenatal use of glucocorticoids to induce lung maturation in fetuses at risk of premature delivery suggests a potential for a therapeutic effect in other fetuses with impaired lung development. The parents of three fetuses referred with CDH and features suggesting a poor postnatal prognosis (early diagnosis, liver herniation, and lung area-to-head circumference ratio <1.0, or associated abnormalities) elected to receive maternal betamethasone starting at 24 to 26 weeks' gestation rather than undergo a fetal tracheal plug. All three infants survived and were extubated within 10 days. The long-term use of antenatal steroids in the treatment of CDH may thus be of benefit and warrants further study.

Anti-Inflammatory Agents↗

Malrotation with recurrent volvulus presenting with cholestasis, pruritus, and pancreatitis.

A patient aged 16 years was referred following numerous episodes of intense pruritus associated with persistently altered liver function tests. Ultrasound (US) demonstrated the superior mesenteric vein positioned more to the left than usual and abnormal orientation of the duodenum, consistent with a midgut malrotation. Endoscopic retrograde cholangiopancreatography the common bile duct, suggesting a malrotation with chronic or recurrent volvulus. A classic malrotation with 180 degrees volvulus was noted at operation. A second child previously thought to have recurrent idiopathic pancreatitis was noted to have ampullary distortion secondary to malrotation following presentation with an intestinal obstruction. Pruritus and pancreatitis have not been previously reported with malrotation, although cholestatic jaundice has been described. The diffculties in diagnosis and the role of US are discussed. Ladd's procedure is the appropriate treatment for this condition.

Adolescent↗

Congenital duodenal obstruction: early antenatal ultrasound diagnosis.

Twenty-nine patients with congenital duodenal obstruction (DO) detected as a "double bubble" (DB) on antenatal ultrasound (US) or diagnosed postnatally were seen at the Women's and Children's Hospital between 1985 and 1994; 24 (83%) had antenatal scans, with 21 (87%) DBs visualised. The 3 fetuses with normal scans who developed DO postnatally had duodenal "windsocks". Five of the 24 scanned patients (21%) were found to have a DB before 20 weeks' gestation: 1 simple duodenal atresia, 2 duodenal atresias with chromosomal abnormalities (1 trisomy 21 and 1 triploidy), 1 biliary atresia with a pre-pyloric vein, and 1 malrotation. Sixteen (67%) cases were detected with scans after 20 weeks (range 28-36 weeks); 12 (75%) of these were done for polyhydramnios. In response to a questionnaire to 9 of the 16 parents whose fetuses underwent a late scan, 5 had had normal early scans elsewhere and 4 did not respond (4 of the remaining 7 had died and 3 were lost to follow-up). Eleven of the 29 patients (38%) had abnormal karyotypes, and 4 (22%) of the 18 with a normal karyotype had associated anomalies. Two sets of familial cases were noted. Early antenatal diagnosis of DO is possible in a minority of cases, and this early diagnosis may be associated with an increased risk of other pathology. Furthermore, early demonstration of a DB at routine US prior to 20 weeks allows appropriate counseling and the option of mid-trimester termination, whereas this is more difficult later in the pregnancy. In all cases detected antenatally, planning of delivery and parent counseling should be achieved.

Abnormalities, Multiple↗

Dilemmas in the 18-week morphology scan: a review.

The 18-20-week obstetric ultrasound scan is a commonly performed radiological investigation. The sonographic abnormalities demonstrated and management implications change frequently. A tertiary referral centre such as the Women's and Children's Hospital receives many queries from radiologists regarding the further management of their patients. The more common problems have been addressed by using a systematic approach to fetal anatomy, and emphasis is placed on the need for standardized protocols. The object of this review is to provide an obstetric morphology scan update.

Female↗

Resolution of presumed arachnoid cyst in utero.

We present a case of presumed arachnoid cyst that was diagnosed at 18.5 weeks' gestation, developed a hematoma at 28 weeks and had virtually resolved by 32 weeks. Expectant management of antenatally diagnosed cases is suggested.

Adult↗

Antenatal detection of hiatus hernia.

A routine ultrasound scan in a primigravida at 29 weeks' gestation showed that her fetus had a fluid-filled viscus above the diaphragm in the mid-line. This was initially thought to be the stomach, either as part of a congenital Bochdalek diaphragmatic hernia or an hiatus hernia. Subsequent scans suggested that this was the stomach with an additional loop of bowel. After birth, laparotomy confirmed that the stomach had herniated into the chest through a very lax oesophageal hiatus. The stomach was easily reduced into the abdomen with no evidence to suggest a congenital short oesophagus, the crura were tightened, and an anterior fundoplication performed.

Adult↗

A decade of gastroschisis in the era of antenatal ultrasound.

BACKGROUND: Gastroschisis is an uncommon condition in which viscera protrude at the base of the umbilical cord. To investigate the possible relationships between antenatal ultrasound findings, patient demographics, smoking, alcohol consumption and this condition, 21 causes are reviewed. METHODS: The medical records and antenatal ultrasounds of 21 children diagnosed with gastroschisis at the Adelaide Children's Hospital between 1 January 1985 and 31 December 1992 were reviewed. RESULTS: Antenatal ultrasound was employed in 15 cases, and the diagnosis was accurately made in 13 (86.7%) of these. There were 17 live births, two elective terminations and two pre-term abortions. Seven of the 21 cases had associated anomalies. The anomalies included five atresias, a ventricular septal defect (VSD), and a dislocated gall-bladder. Postoperative complications (which included one death) occurred in seven of the 17 patients. Bowel dilatation or thickening was first detected on five ultrasound examinations performed before 21 weeks' gestation, and four ultrasounds after 21 weeks. The nine cases with bowel changes on ultrasound were associated with a high atresia rate and a longer hospital stay, but not with an increased complication rate. Maternal race, parity, and alcohol consumption were not associated with increased risk of fetal gastroschisis. All mothers were under 27 years of age. There were nine mothers who smoked during pregnancy and a disproportionate number of mothers who lived outside the metropolitan area with gastroschisis-affected offspring. CONCLUSIONS: Bowel changes seen on antenatal ultrasound increase the chances of intestinal atresia and longer hospitalization. Smoking during pregnancy may be associated with an increased risk of gastroschisis.

Abdominal Muscles↗

The OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): recurrence in sibs.

The OEIS complex comprises a combination of defects including omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects. It may represent the most severe manifestation of a spectrum of birth defects, the exstrophy-epispadias sequence. The OEIS complex affects 1 in 200,000 to 400,000 pregnancies and is of unknown cause. The purpose of the current report is to document the occurrence of OEIS in sibs from separate pregnancies and suggest that some cases may have a genetic basis.

Abnormalities, Multiple↗

Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III.

We describe a male infant with microcephalic osteodysplastic primordial dwarfism. The clinical and radiological manifestations most closely resemble those of the patient described by Winter et al. to have manifestations overlapping with both osteodysplastic primordial dwarfism types I and III. The classification of the patient within the spectrum of osteodysplastic primordial dwarfism is discussed and the distinctive neuropathology documented.

Abnormalities, Multiple↗

Some red herrings in obstetric ultrasound.

The extreme distress which possible fetal abnormality induces in expectant parents makes it potentially dangerous to report artefacts seen on antenatal scans, even to dismiss them. A selection of spurious abnormalities is presented, for ultrasound trainees.

Female↗