Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome.

Zellweger syndrome (ZS), or cerebrohepatorenal syndrome, was the first described peroxisomal biogenesis disorder. It represents the most severe phenotype, and some of its multiple congenital anomalies can manifest prenatally. Fetal hypokinesia, renal hyperechogenicity, and cerebral ventricular enlargement are the most common reported fetal features. Single and/or late detectable manifestations account for most of the difficulties of prenatal diagnosis, as well as the limitations of ultrasonography itself. Prenatal diagnosis, however, can be achieved through (1) assays of concentrations of peroxisomal metabolites (very-long-chain fatty acids, bile acids, intermediates, plasmalogens), (2) activities of peroxisomal enzymes (dihydroacetone-phosphate acyltransferase), or (3) molecular screening techniques, if available. We report on the contribution of MR imaging to the diagnosis of ZS in 2 unrelated fetuses. MR imaging was performed in the third trimester because of cerebral ventricular enlargement diagnosed on routine sonography examinations. In both cases, MR imaging revealed ZS-characteristic abnormal cortical gyral patterns, impaired myelination, and cerebral periventricular pseudocysts. In addition, MR imaging revealed renal microcysts and hepatosplenomegaly in one case. The high level of resolution of MR imaging, which allows analysis of cerebral gyration and myelination, facilitates the prenatal diagnosis of complex polymalformative syndromes such as ZS.

Delayed surgery in pericardial teratoma with neonatal hydrops.

Timing of neonatal surgery in cases of pericardial teratoma with hydrops is not standardised. We report two cases of hydropic premature newborns with pericardial teratoma in which surgery was delayed until respiratory and haemodynamic stabilisation. Mature teratoma was removed on day 3. The newborns were weaned from the ventilator on postoperative day 5 and 10, respectively. Both infants were doing well at 18 months, suggesting delayed surgery may be feasible and effective.

Pericardial teratoma complicated by hydrops: successful fetal therapy by thoracoamniotic shunting.

Pericardial teratoma is a potentially curable lesion that may become life threatening when it induces mediastinal compression and fetal hydrops. So far, cases with fetal hydrops have been managed by elective delivery or pericardial needle decompression. We report a case in which pericardial teratoma resulted in fetal hydrops. Following transpleural needling of the fetal pericardium at 29 weeks and 6 days, pericardial effusion decreased but hydrops persisted, while major unilateral pleural effusion appeared. A thoracoamniotic shunt was placed at 30 weeks and 5 days. Hydrops resolved, although incompletely. The baby was delivered at 32 weeks and was operated upon on day 3. This observation suggests that fetal hydrops associated with pericardial teratoma may improve following thoracoamniotic shunting. Fetal therapy may limit the risks of respiratory distress arising from the combined effect of airways compression and lung immaturity.

Kinetics of SRY gene appearance in maternal serum: detection by real time PCR in early pregnancy after assisted reproductive technique.

BACKGROUND: Fetal DNA circulating in maternal serum offers a possibility for non-invasive prenatal diagnosis but its kinetics during very early pregnancy is still unclear. In order to clarify this point, the studies on the kinetics of fetal DNA appearance in maternal serum were conducted on patients undergoing assisted reproduction. METHODS: Using a quantitative real time PCR assay, the presence of SRY gene sequences was evaluated in the serum of patients at the onset of pregnancy. RESULTS: Twenty-seven patients were originally studied but first trimester abortion occurred in five cases. Among the 22 ongoing pregnancies, ten were found to bear at least one male fetus and all sera from these women gave positive results for SRY gene detection. The SRY gene was found to be detectable as soon as day 18 after embryo transfer in one case and it had been found in the other nine patients by day 37. CONCLUSIONS: Fetal DNA is found in maternal serum even before the fetal circulation is established, which is highly suggestive that it is released, at least in part, from the trophoblast. Detection of fetal DNA in maternal serum very early in pregnancy may have clinical implications such as with the management of pregnant women carrying a fetus at risk for congenital adrenal hyperplasia.

[Postpartum hemorrhage]. / Hémorragies du post-partum.

Postpartum haemorrhage, the second cause of maternal mortality in France, is an obstetric and anaesthetic emergency. Yet, it often seems avoidable as most patients at risk can be identified before or during labour. In this respect, obstetrical conduct regarding delivery is essential; it makes it possible to foresee the necessary preventive and curative measures. Once haemorrhage has begun, any delay or hesitation in assuming multidisciplinary responsibility is potentially detrimental as it may lead to coagulopathy complications. Whenever possible, arterial embolisation presents an enormous progress in noninvasive conservative treatment, especially after vaginal delivery. Stepwise uterine devascularisation seems to be a promising surgical option as it can be used under all conditions, preserves maternal fertility, and is clearly effective.