[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.

Prenatal diagnosis of Gaucher's disease type 2. Ultrasonographic, biochemical and histological aspects.

We report on the early prenatal diagnosis of fetal Gaucher disease type 2 by ultrasound examination and beta-glucosidase activity assay on amniocytes from a fetus of 15 weeks' gestation whose first sibling fetus had previously been affected with hydrops fetalis. These cases emphasize the importance of the pathological examination of all fetuses presenting with hydrops fetalis and also stress that minimal and precocious echographic signs can be suggestive of such a lysosomal storage disease.

[Choledochal cysts. A rare prenatal diagnosis]. / Le kyste du cholédoque. Un diagnostic anténatal rare.

Forty to sixty percent of main bile duct cysts are diagnosed before the age of 10 years, often at the time of a complication. Current progress in echography now makes it possible to diagnose such cysts antenatally. Wze report a case discovered at 33 gestation and focus on the difficulty of formal antenatal diagnosis and the unpredictable, sometimes rapid, course of the disease. The main prognosis factor is the development of complications, especially liver fibrosis. Antenatal suspicion of main bile duct cyst is important as they can then be managed early after echographic confirmation during the first days of life with the potential reduction in severe complications.

[Intravenous urography in pregnancy and the risks of fetal hypothyroidism]. / Urographie intraveineuse pendant la grossesse et risques d'hypothyroïdie foetale.

The authors approach the question of the risk of fetal and neonatal hypothyroidism when intravenous pyelography is carried out in the pregnant woman. They looked at a continuous series of 15 cases in 7 years, of which 8 were studied retrospectively and 7 prospectively. They did not find any clinical or biological signs of hypothyroidism when the children were from 10 months to 9 years of age at review. The authors approached the reaction of the fetal thyroid to this excess dose of iodine considering what is known about the physiology of this gland in utero and the publications concerning hypothyroidism occurring after prolonged administration of iodine or amniofetography. They conclude that there is probably a temporary disturbance of fetal thyroid function but it does not continue into the neonatal period. All the same, caution is advocated because intravenous urography during pregnancy should be carried out only for very tight indications and the newborn should be carefully examined.