[Prenatal and clinicopathological study of 6 cases of Pallister-Killian syndrome and review]. / Syndrome de Pallister-Killian : confrontation des données prénatales et fœtopathologiques de six cas et revue de la littérature.

OBJECTIVE: In multidisciplinary prenatal diagnosis centers, the search for a tetrasomy 12p mosaic is requested following the discovery of a diaphragmatic hernia in the antenatal period. Thus, the series of Pallister Killian syndromes (PKS: OMIM 601803) probably overestimate the prevalence of diaphragmatic hernia in this syndrome to the detriment of other morphological abnormalities. METHODS: A multicenter retrospective study was conducted with search for assistance from members of the French society for Fetal Pathology. For each identified case, we collected all antenatal and postnatal data. Antenatal data were compared with data from the clinicopathological examination to assess the adequacy of sonographic signs of PKS. A review of the literature on antenatal morphological anomalies in case of PKS completed the study. RESULTS: Ten cases were referred to us: 7 had cytogenetic confirmation and 6 had ultrasound screening. In the prenatal as well as post mortem period, the most common sign is facial dysmorphism (5 cases/6). A malformation of limbs is reported in half of the cases (3 out of 6). Ultrasound examination detected craniofacial dysmorphism in 5 cases out of 6. We found 1 case of left diaphragmatic hernia. Our results are in agreement with the malformation spectrum described in the literature. CONCLUSION: Some malformation associations could evoke a SPK without classical diaphragmatic hernia.

[Performance of prenatal diagnosis and postnatal development of congenital lung malformations]. / Performance du diagnostic anténatal et évolution postnatale des malformations pulmonaires congénitales.

OBJECTIVES: For many diseases, the comparison of prenatal diagnosis with a histopathological reality is not always possible. Fetal lung pathology, with its high rate of surgery in postnatal, allows this assessment. This study proposes an approach to the reliability of prenatal diagnosis and analysis of the postnatal development of all children in care for congenital pulmonary malformation (CPM). METHODS: This is a retrospective study of all cases of CPM diagnosed in Poitiers University Hospital from 1995 to 2011. Cases diagnosed prenatally were identified and the diagnostic accuracy was studied by histology when cases had surgery. The postnatal development of prenatally diagnosed cases is described and compared to children who did not receive prenatal diagnosis. RESULTS: Among the 45 cases of CPM supported at the Poitiers University Hospital, 30 had received prenatal diagnosis of isolated CPM. The diagnostic concordance between antenatal ultrasound and the final diagnosis is κ=0.67 (CI95% [0.38 to 0.94]). The sensitivity of ultrasound was 90% (CI95% [55-99.7]) in our series for the diagnosis of CAMP (cystic adenomatoid malformation pulmonary). We found a sonographic disappearance of lesions in 4 children, 1 child in regression, stable lesions in 21 cases. Four children showed an increase in volume of the malformation, with signs of poor tolerance in 3 cases. After birth, children who received a prenatal diagnosis were no more symptomatic than those whose diagnosis was made postnatal: 21 (70%) versus 11 (73%; P=1) respectively. Similarly, they often received prophylactic surgery: 18 (60%) versus 2 (13%) respectively (P<0.01) and less often suffered post-surgery complication: 3 (10%) versus 10 (67%) respectively (P<0.01). The number of children monitored was not significantly different in the two groups. CONCLUSION: Prenatal diagnosis allows for the precise nature of the lesion in 90% of cases in 2013 and had no impact on symptomatology at birth. When prenatal diagnosis is possible, preventive surgery probably reduces the occurrence of emergency surgery.

[Severe precocious pre-eclampsia : how to manage the feto-maternal conflict of interest]. / La pré-eclampsie sévère précoce : comment gérer le conflit d'intérêt foeto-maternel.

BACKGROUND: The HELLP syndrome is usually treated by rapid termination of pregnancy as the most effective way of limiting the risk of disease aggravation and maternal complications. The drawback is the risk of fetal complications due to prematurity when pregnancy is terminated before 32 weeks gestation. A controlled study has suggested that corticosteroid therapy could be effective in early HELLP syndrome. PATIENTS AND METHODS: From January 1, 1996 to March 1, 1999, we treated patients presenting early HELLP syndrome defined as platelet counts below 150,000 and ALAT above 50 U/l prior to 32 weeks gestation with dexamethazone (Soludecadron((R))) via intravenous administration of 10 every 12 hours to the end of pregnancy or until platelet counts rose above 150,000. RESULTS: Among 14 patients with early HELLP syndrome, 10 were treated (including 5 primiparous women). Six patients among the 10 had platelet counts between 50,000 and 100,000. Mean term at the first injection of dexamethazone was 29 weeks 3 days. Platelet counts rose and transaminase levels fell in all patients. Pregnancy was prolonged 7 2 days. The only maternal complication was one case of disseminated intravascular coagulation. There were no neonatal deaths. DISCUSSION: Our results are similar to those reported in the literature but such a treatment scheme can only be instituted within a rigorously controlled monitoring system in a unit with neonatal and maternal intensive care facilities. This protocol remains safe for patients with HELLP syndrome whose platelet count remains at least above 50,000.