Karl W. Murphy

Clustering of perinatal markers of birth asphyxia and outcome at age five years

Objectives In a cohort of term infants with cerebral depression at delivery, to investigate the association of perinatal signs of birth asphyxia, particularly abnormal fetal heart rate patterns in labour, acidaemia, and serious neonatal encephalopathy, with neurodevelopmental outcome at age five years.

How to assess fetal metabolic acidosis from cord samples

The degree of metabolic acidosis at birth has been calculated in cord artery and vein samples from 21 term fetuses with cord artery pH less than 7.20. The aim of the study was to compare base deficit values calculated from either Siggaard-Andersen alignment nomogram (BD blood) or the Acid-Base chart (BD extra cellular fluid, BDecf). BDblood was found to be consistently higher in the cord artery as compared with BDecf, 13.2 +/- 3.5 and 9.9 +/- 2.9 mmol/l (Mean +/- SD), respectively. A significant correlation was found between cord artery PCO2 and BDblood whereas BDecf appeared unaffected by PCO2. In cases with cord entanglement BDecf a-v differences were increased to 3.4 +/- 2.3 mmol/l as compared with the small a-v difference noted in acidotic cases without cord entanglement, 1.1 +/- 1.25 mmol/l. It is speculated that with acutely emerging, intermittent asphyxia due to cord compression, a cord artery and vein difference in metabolic acidosis may exist and where the vein captures the basal level and the artery the acute changes. It is concluded that BDecf in both cord artery and vein add valuable information on the mechanisms behind metabolic acidosis.

Early-onset fetal hydrops and muscle degeneration in siblings due to a novel variant of type IV glycogenosis.

We report on 3 consecutive sib fetuses, presenting at 13, 12, and 13 weeks of gestation, respectively, with fetal hydrops, limb contractures, and akinesia. Autopsy of the first fetus showed subcutaneous fluid collections and severe degeneration of skeletal muscle. Histologic studies demonstrated massive accumulation of diastase-resistant periodic acid-Schiff-positive material in the skeletal muscle cells and epidermal keratinocytes of all 3 fetuses. Enzyme studies of fibroblasts from the 3rd fetus showed deficient activity of glycogen brancher enzyme, indicating that this is a new, severe form of glycogenosis type IV with onset in the early second trimester.

Clinical outcome of congenital talipes equinovarus diagnosed antenatally by ultrasound

Congenital talipes equinovarus is a common anomaly which can now be diagnosed prenatally on a routine ultrasound scan at 20 weeks of gestation. Prenatal counselling is increasingly offered to parents with affected fetuses, but it is difficult to counsel parents if there is a chance that the fetus may not have talipes. Our study correlates the prenatal ultrasound findings of 14 infants diagnosed as having unilateral or bilateral talipes during their routine 20-week ultrasound scan with their clinical findings at birth and the treatment received. No feet diagnosed as talipes on the ultrasound scan were completely normal at birth and therefore there were no true false-positive results. One foot graded as normal at 20 weeks was found to have a mild grade-1 talipes at birth, but did not require treatment other than simple stretches. A total of 32% of feet required no treatment and so could be considered functional false-positive results on the scan. Serial casting was required by 13% of feet and surgical treatment by 55%. The severity of the talipes is difficult to establish before birth. A number of patients are likely to need surgical treatment, but a proportion will have talipes so mildly that no treatment will be required. In counselling parents at 20 weeks, orthopaedic surgeons need to know whether or not there is a small chance that the ultrasound diagnosis could be wrong and also that the talipes may be so mild that the foot will not require treatment.

Clinical assessment of fetal electrocardiogram monitoring in labour

Objective To assess the potential clinical value of fetal electrocardiographic (ECG) monitoring in labour.

Recurrent fetal hydrops due to mucopolysaccharidoses type VII

Hydrops fetalis is associated with a wide range of abnormalities. In about 20% of cases of non-immune fetal hydrops, no cause is found despite investigations including routine post-mortem examination and enzyme studies may be indicated to detect an underlying metabolic storage disease. Fetal hydrops due to mucopolysaccharidosis type VII is very rare and a prenatal diagnosis is not usually made. We report a case of mucopolysaccharidosis type VII presenting as recurrent fetal hydrops and review the clinico-pathological features of this disorder.

Recurrence of acute fatty liver of pregnancy

M A R J O R Y A. MACLEAN Registrar Obstetrics and Gynaecology, ALAN D. CAMERON Consultant Obstetrician and Gynaecologist, GRANT P. CUMMING SHO 3 (Obstetrics and Gynaecology), KARL MURPHY Senior Registrar (Obstetrics and Gynaecology), *PETER MILLS Consultant Physician and Gastroenterologist, **KENNETH J . HILAN LecturerlSenior Registrar (Pathology) Department of Obstetrics, The Queen Mothers Hospital; * Gartnavel General Hospital; ** The Western Inzrmary of Glasgow, Glasgowp

The prevalence, aetiology and clinical significance of pseudo‐sinusoidal fetal heart rate patterns in labour

Objective— To investigate the prevalence of sinusoidal and pseudo‐sinusoidal fetal heart rate (FHR) patterns in labour and the relation between the characteristics of the FHR pattern and fetal outcome.

Antenatal screening for Down's syndrome using the Integrated test at two London hospitals

We carried out an audit of antenatal screening for Downs syndrome using the Integrated test (which provides a single screening result from information collected in the late first and early second trimesters of pregnancy) which was introduced into routine antenatal care at two London hospitals, University College Hospital (UCH) and St Marys Hospital, in 2003–4. The audit was based on 15,888 women who accepted screening and booked in the first trimester. The Downs syndrome detection rate was 87% (95% confidence interval [CI], 74–95) consistent with an expected detection rate of 89% based on applying the estimates of screening performance of the Serum, Urine and Ultrasound Screening Study (SURUSS) to the maternal age distribution of women who were screened at UCH and St Marys. The observed false-positive rate was 2.1% (95% CI, 1.9–2.3), compared with an expected of 2.5% for women of the same age. An audit trail (conducted at UCH) indicated that 98% (10,746/10,961) of women accepted integrated screening (2% having a first trimester test) and of these, 94% (10, 116) completed both stages of the test. The audit demonstrated that it is feasible to conduct integrated screening within the NHS with a high acceptance rate and a screening performance consistent with that determined from previous research studies.

Limitations of ultrasound in the diagnosis of fetomaternal haemorrhage.

A 27 year old woman booked for confinement at 15 weeks of gestation. Her first pregnancy miscarried at 21 weeks, and her second pregnancy was complicated by fetal hydrocephalus for which no cause was found. In the index pregnancy her antenatal progress was satisfactory until 29 weeks of gestation when she was admitted to the hospital with a 20-hour history of reduced fetal movements. All of her earlier investigations had been normal: maternal serum alpha-fetoprotein 2.02 multiple of median and P-hCG 1.48 multiple of median; routine screening tests including Veneral Disease Reference Laboratory, haemoglobin electrophoresis, hepatitis B, hepatitis C and HIV were all negative and she was immune to rubella. Maternal blood group was B rhesus positive and no atypical blood group antibodies were detected in the booking sample. There was no significant medical history and she was not taking any medication. The reduction in fetal activity began with the sudden onset of severe low back pain while the woman was lifting a heavy object. She described a strange sensation radiating upwards like a warm gush, followed by shivering and breathlessness. The admission cardiotocograph some 20 hours after this episode was not reassuring: it showed a baseline fetal heart rate of 160 bpm, an absence of accelerations but normal baseline variability (5-10 bpm). An urgent ultrasound scan carried out by the fetal medicine team showed the presence of gross body movements, breathing movements and normal tone, together with a normal amniotic fluid volume (biophysical score 8/10), and normal uterine and umbilical artery Doppler resistance. The woman was aware of fetal activity but felt that it was less vigorous than usual. She received betamethasone to promote fetal lung maturity and an urgent Kleihauer test was performed, which was negative: no fetal red blood cells