Non-invasive detection and quantification of human foetal brain lactate in utero by magnetic resonance spectroscopy.

OBJECTIVE: To assess the feasibility of foetal cerebral lactate detection and quantification by proton magnetic resonance spectroscopy ((1)H-MRS) in pregnancies at increased risk of cerebral hypoxia, using a clinical 1.5 T magnetic resonance imaging (MRI) system. METHOD: Localised (1)H-MRS was performed in four patients with pregnancies in their third trimester complicated by intrauterine growth restriction (IUGR). A long echo time (TE) of 288 ms was used to maximise detection and conspicuity of the lactate methyl resonance, together with a short TE MRS acquisition to check for the presence of lipid contamination. Individual peaks in the resulting spectra were measured, corrected for relaxation and referenced to the unsuppressed water signal to provide metabolite concentrations. RESULTS: A resonance peak consistent with the presence of lactate was observed in all cases. In one subject, this was confounded by the identification of significant lipid contamination in the short TE MRS acquisition. The range of measured lactate concentrations was 2.0-3.3 mmol/kg and compared well with preterm neonatal MRS studies. CONCLUSION: The non-invasive detection and quantification of foetal cerebral lactate by MRS is achievable on a clinical 1.5 T MRI system.

Third trimester intrauterine fetal death caused by arterial aneurysm of the umbilical cord.

Umbilical artery aneurysm (UAA) of the umbilical cord is an extremely rare lesion, with only 8 reported cases in the English-language literature; 7 of these were associated with significant fetal morbidity or mortality and 4 were associated with fetal trisomy 18. We report an additional case of UAA with normal karyotype that resulted in intrauterine growth restriction and fetal demise. It has been suggested that these aneurysms cause fetal hypoxia and intrauterine fetal death, either by compression of the umbilical vein or by acute kinking of the umbilical cord. Cytogenetic analysis should be performed in all cases diagnosed with this unusual lesion, and placental mosaicism for trisomy 18 should be excluded.

Sonographic diagnosis of cesarean scar pregnancy at 16 weeks.

Cesarean scar pregnancy is rare. However, there has been a rapid increase in the reporting of such cases in recent years. Most of the cases reported in the literature were diagnosed early in the first trimester. Possible management options proposed are pertinent to an early diagnosis. We present a case of a cesarean scar pregnancy diagnosed at 16 weeks that posed a dilemma with regard to management. The patient subsequently suffered a ruptured uterus, which was preserved at surgery.

Monoamniotic twins: what should be the optimal antenatal management?

Monoamniotic twinning is a rare event with an incidence of 1% of all monozygotic twins and associated with a high fetal morbidity and mortality. Confident early diagnosis is possible, but optimal management is not yet established. This article presents the experience of a single centre in managing all monoamniotic twins diagnosed during 1994-2000. Seven pairs of monoamniotic twins were identified for analysis. All were managed in accord with a unit protocol that involved early diagnosis, serial ultrasound examination and elective early delivery. In four cases, the detection of monoamnionicity was made during a first trimester nuchal scan. Discordance for structural abnormality was found in three cases where the co-twin was normal. Cord entanglement was detected antenatally in four cases. Two pairs of twins died before 20 weeks. One of these had early onset twin-twin transfusion syndrome. In five cases, the pregnancy continued beyond 20 weeks. A live birth rate of 90% and intact survival of 70% were achieved in this group. We believe that ultrasound is reliable in diagnosing monoamniotic twins and the detection of cord entanglement. Timing of elective delivery is a balance between the risks of preterm birth at a specific gestational age in an individual centre compared with the unquantifiable risks of fetal death if an expectant policy were pursued. The decision to deliver and at which gestational age should combine input from the parents, neonatologist, fetal medicine consultant and the obstetrician.

Class II neocentromeres: a putative common neocentromere site in band 4q21.2.

Neocentromeres are rare functional centromeres formed within noncentromeric chromosomal regions. We report the finding of a neocentromere in a very rare class II analphoid chromosome. This neocentromere was detected prenatally in a fetus with the karyotype: 47,XY,del(4)(p15.3q21.1),+r(4)(p15.3q21.1).ish del(4)(D4S3360+,WHS+,D4Z1-,4qsubtel+),r(4)(D4S3360-,WHS-,D4Z1+,4qsubtel-)de novo. The fetus was missing one normal chromosome 4 but had a ring chromosome, consisting of the pericentromeric region of chromosome 4, and a deleted chromosome 4, the reciprocal product of the ring formation. In situ hybridization established that the chromosome 4 pericentromeric heterochromatin was located on the ring chromosome, while the Wolf-Hirschhorn critical region and chromosome 4 subtelomeric regions were present on the deleted chromosome. A C-band-negative constriction was observed in band 4q21.2 of the deleted chromosome 4, indicating that a neocentromere had been formed in this band, allowing stable segregation during cell division. This chromosome abnormality was detected in cultured amniocytes from a 20-week pregnancy presenting with intrauterine growth retardation and echogenic bowel. The pregnancy resulted in intrauterine death at 33-34 weeks. Despite the apparently balanced karyotype, the fetus is likely to have been phenotypically impaired due to disruption of genes by the neocentromere, rearrangement and ring chromosome formation. There has been one previous report of neocentromere formation in band 4q21; the observation presented here might refine a putative common neocentromeric site to sub-band 4q21.2.