Paul Sagot

Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

Oral–facial–digital syndrome type 1 (OFD1) is characterised by an X linked dominant mode of inheritance with lethality in males. Clinical features include facial dysmorphism with oral, tooth, and distal abnormalities, polycystic kidney disease, and central nervous system malformations. Large interfamilial and intrafamilial clinical variability has been widely reported, and 18 distinct mutations have been previously reported within OFD1. A French and Belgian collaborative study collected 25 cases from 16 families. OFD1 was analysed using direct sequencing and phenotype–genotype correlation was performed using χ2 test. X inactivation studies were performed on blood lymphocytes. In 11 families, 11 novel mutations, including nine frameshift, one nonsense, and one missense mutation were identified, which spanned nine different exons. A combination of our results with previously reported cases showed that the majority of mutations (65.5%) was located in exons 3, 8, 9, 13, and 16. There was phenotype–genotype correlation between (a) polycystic kidney disease and splice mutations; (b) mental retardation and mutations located in exons 3, 8, 9, 13, and 16; and (c) tooth abnormalities and mutations located in coiled coil domains. Comparing the phenotype of the families with a pathogenic mutation to families with absence of OFD1 mutation, polycystic kidneys and short stature were significantly more frequent in the group with no OFD1 mutation, whereas lingual hamartomas were significantly more frequent in the group with OFD1 mutation. Finally, an X inactivation study showed non-random X inactivation in a third of the samples. Differential X inactivation between mothers and daughters in two families with high intrafamilial variability was of particular interest. Slight phenotype–genotype correlations were established, and X inactivation study showed that skewed X inactivation could be partially involved in the pathogenesis of intrafamilial clinical variability.

Complications and failure of uterine artery embolisation for intractable postpartum haemorrhage

Objectiveu2002 Primary postpartum haemorrhage (PPH) is a major cause of maternal morbidity and mortality around the world. Most patients can be managed conservatively, but patients with intractable bleeding require more aggressive treatment. In these cases uterine artery embolisation (UAE) has proven to be a useful tool to control PPH. The reported success rate of UAE is over 90% with only minor complications. In this case series we studied the effectiveness and complications of UAE.

Uterine necrosis following selective embolization for postpartum hemorrhage using absorbable material

Embolization of the uterine arteries with resorbable material is an effective treatment for postpartum hemorrhage. Cases of uterine necrosis were already described but with non‐resorbables particles. We report two exceptional cases of uterine necrosis with failure of conservative treatment following selective embolization with gelatine.

Cesarean section in morbidly obese women: supra or subumbilical transverse incision?

The obstetrician is more and more frequently faced with the decision to perform a cesarean section in obese women. We describe a technique of supra or subumbilical transverse cesarean section (depending on the height of the projection of the upper edge of the pubic symphysis) specifically designed for morbidly obese women with a voluminous panniculus. We evaluated feasibility and associated morbidity in a retrospective descriptive series of 18 patients operated between 2003 and 2008. We assessed the quality of access to the lower uterine segment and facility to extract the fetus. The mean body mass index was 47.7 kg/m2 (range 40.1–60.8). The incision was subumbilical in 13 women (72.2%) and supraumbilical in 27.7%. With this technique, the exposition, the section of the lower uterine segment, and extraction of the baby are simple. It can be easily generalized and quickly learnt.

Recurrence of achondrogenesis type II within the same family: Evidence for germline mosaicism

Achondrogenesis type II is a lethal skeletal dysplasia caused by new dominant mutations within the type II collagen gene (COL2A1). Here we report on two pregnancies of a healthy, nonconsanguineous young couple. In the first pregnancy, severe micromelia and generalized edema were noted on ultrasound at 21 weeks gestation. Clinical, radiological, and histological evaluation of the fetus after termination of the pregnancy showed typical findings of achondrogenesis type II. In the second pregnancy, fetal hygroma was noted at 11 weeks gestation. Similar clinical, radiographic, and histologic findings were observed in the second fetus, suggesting the recurrence of achondrogenesis II within this family. Molecular analysis of genomic DNA extracted from amniotic cells of the second fetus revealed heterozygosity for a 1340Gu2009>u2009A missense mutation (G316D) in the COL2A1 gene. This mutation was not found in the parents. Although, we could not evaluate the presence of this mutation in the first fetus, we strongly believe that our data are in favor of germline mosaicism as the most likely explanation for the recurrence of type II achondrogenesis in both sibs.

Refining the critical region for congenital diaphragmatic hernia on chromosome 15q26 from the study of four fetuses.

A. L. Mosca1, L. Pinson2, J. Andrieux3, H. Copin4, N. Bigi2, J. Puechberty2, P. Sarda2, A. Receveur4, H. Sevestre4, S. Pigeonnat5, N. Marle1, M. Payet1, C. Ragon1, T. Rousseau6, C. Thauvin-Robinet1, A. Masurel-Paulet1, A. Schneider2, N. Laurent5, P. Sagot6, F. Mugneret1, G. Lefort2, L. Faivre1 and P. Callier1* 1Département de Génétique, Hôpital Le Bocage, Dijon, France 2Service de Génétique Médicale et Chromosomique, Hôpital Arnaud de Villeneuve, CHRU Montpellier, Montpellier, France 3Laboratoire de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU de Lille, Lille, France 4Cytogénétique et CECOS de Picardie, Centre de Gynécologie-Obstétrique du CHU Amiens, Amiens, France 5Service d’Anatomopathologie, Hôpital le Bocage, Dijon, France 6Service de Gynécologie, CHU le Bocage, Dijon, France.

Changes in Maternal Blood Inflammatory Markers As a Predictor Of Chorioamnionitis: A Prospective Multicenter Study

To evaluate the inflammatory pattern in maternal circulation from women with preterm premature rupture of membranes (PPROM) considering the occurrence of histologically confirmed chorioamnionitis (HCA).

Complications and failure of uterine artery embolisation for intractable postpartum haemorrhage: Correspondence

Author’s Reply Sir, We thank Dr Uchil for his response. The studies reporting on the use of arterial embolisation for the management of major postpartum haemorrhage (PPH) have generally a poor methodological quality. The number of cases reported is low, very often lower than in our series, leaving room for reporting bias. Dr Uchil raises the issue of selective embolisation of the anterior division of the internal iliac artery versus the superselective embolisation of the uterine artery for PPH. All patients in our series had severe PPH. This resulted in a situation where the embolisation procedure had to be performed within a limited time frame on patients who were haemodynamically challenged. Further, the procedure was often performed in an (non-angiographic suite) operating room under suboptimal circumstances. Our first goal was always to selectively place the catheter in the left and right uterine artery. As many interventional radiologists who perform elective uterine artery embolisations for fibroids will acknowledge, superselective placement of a catheter in the uterine artery can be troublesome and timeconsuming because of the often acute angle of the vessel at the origin of the uterine artery or vessel spasm. We agree that superselective embolisation is preferable in order to minimize the risk of collateral damage. However, because of the circumstances, the anterior division of the internal iliac artery was embolised in most cases. A recent review confirms that this is common practice in the majority of reported studies. The last issue raised by Dr Uchill concerned the accidental arterial embolisation that has never been noted. This may be true. However, accidental arterial embolisation does occur, either with bronchial artery embolisation resulting in stroke, or with renal artery embolisation resulting in ischaemic legs and feet, as well as with uterine artery embolisation. However, spill in the pelvic vessels is often asymptomatic and probably therefore not noted. If noted, it is often not reported because of positive publication bias. On the other hand, spill from the internal iliac artery to the external iliac artery in our case was not directly caused by the injection of the embolising agent, but was due to a very high velocity injection of contrast agent in the internal iliac artery at the final post-embolisation angiogram. j

Hamman's syndrome associated with pharyngeal rupture occurring during childbirth

Hammans syndrome is the classical association of subcutaneous emphysema and pneumomediastinum, with or without pneumothorax. Its onset during the expulsive phase of childbirth is exceptional. We report here the first case associated with pharyngeal rupture at the level of the piriform sinus and describe the warning signs and the management by endoscopy.

A prenatal case of inverted duplication with terminal deletion of 5p not including the cat‐like cry critical region

A Prenatal Case of Inverted Duplication With Terminal Deletion of 5p Not Including the Cat-Like Cry Critical Region A.L. Mosca,* P. Callier, L. Faivre, N. Laurent, T. Rousseau, N. Marle, M. Payet, H. Guy, S. Couvreur, A. Masurel-Paulet, P. Sagot, C. Thauvin-Robinet, and F. Mugneret Laboratoire de Cytog en etique, CHU le Bocage, Dijon, France Centre de G en etique et Centre de R ef erence Anomalies du D eveloppement et Syndromes Malformatifs, CHU le Bocage et Universit e de Bourgogne, Dijon, France Laboratoire d’Anatomo-Pathologie, CHU le Bocage, Dijon, France Service de la Maternit e, CHU le Bocage, Dijon, France