Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus.

Background Congenital hydrocephalus is a common and often disabling disorder. Various syndromic forms of hydrocephalus have been reported in the Palestinian population including Walker-Warburg syndrome (WWS), Carpenter syndrome, and Meckel syndrome. Aim In this report we discuss the antenatal diagnosis of congenital hydrocephalus in three related Palestinian families. Method Single nucleotide polymorphism (SNP) array was performed prenatally for the third affected fetus. Results A diagnosis of WWS was found and molecular testing revealed a known pathogenic mutation in the POMT2 gene. An affected fetus from the other family was diagnosed and tested postnatally in light of this finding. Testing of another affected stillborn offspring was performed and revealed the same mutation. Conclusions Here, we show that the use of prenatal SNP array testing can be helpful in elucidating the etiology of congenital hydrocephalus and in guiding appropriate perinatal care. Also, testing for this specific POMT2 mutation should be considered in cases of prenatally detected hydrocephalus in Palestinian families.

Perinatal Outcome in 1515 Cases of Prolonged Second Stage of Labour in Nulliparous Women.

OBJECTIVE: To examine perinatal outcomes among nulliparous women with a second stage of labour lasting more than three hours. METHODS: We conducted a retrospective review of all nulliparous women over a 14-year period who had a term, live, singleton, cephalic fetus ≥ 2500 g and who had a second stage of labour lasting at least three hours. Outcome measures included five-minute Apgar score < 7, cord arterial pH < 7.10, admission to the NICU, neonatal seizures, and neonatal death. Rates of serious long-term neurologic morbidity were also analyzed. Outcomes were compared with those of a similar cohort of women who delivered after less than three hours in the second stage. RESULTS: During the study period, 1515 women met the inclusion criteria. The majority of women (67%) delivered vaginally, after up to 10 hours in the second stage of labour. The overall rate of Caesarean section was low (15.7%). The rate of permanent neurologic impairment was 2.6 per 1000 deliveries. CONCLUSION: Among nulliparous women, 84% were spared a possibly difficult Caesarean section in the second stage of labour or a potentially difficult operative vaginal delivery by allowing a longer second stage. However, surviving neonates had a higher risk of permanent neurologic handicap. Our study indicates that the optimal management of the second stage of labour remains controversial.

Objectif : Examiner les issues périnatales chez des nullipares ayant connu un deuxième stade du travail d'une durée supérieure à trois heures. Méthodes : Nous avons mené une analyse rétrospective, sur une période de 14 ans, portant sur toutes les nullipares qui ont accouché à terme d'un fœtus unique en présentation céphalique ≥ 2 500 g et qui ont connu un deuxième stade du travail d'une durée d'au moins trois heures. Parmi les critères d'évaluation, on trouvait un indice d'Apgar à cinq minutes < 7, un pH du sang artériel de cordon < 7,10, l'admission à l'UNSI, les convulsions néonatales et le décès néonatal. Les taux de morbidité neurologique grave à long terme ont également été analysés. Les issues ont été comparées à celles d'une cohorte semblable de femmes ayant accouché après un deuxième stade du travail d'une durée de moins de trois heures. Résultats : Au cours de la période d'étude, 1 515 femmes ont répondu aux critères d'inclusion. La majorité des femmes (67 %) ont connu un accouchement vaginal, et ce, même après un deuxième stade du travail dont la durée avait atteint jusqu'à 10 heures dans certains cas. Le taux global de césarienne était faible (15,7 %). Le taux de détérioration neurologique permanente était de 2,6 sur 1 000 accouchements. Conclusion : Quatre-vingt-quatre pour cent des nullipares ont pu, en permettant la prolongation du deuxième stade, éviter une césarienne qui aurait pu être difficile au cours du deuxième stade du travail ou encore un accouchement vaginal opératoire potentiellement difficile. Toutefois, les nouveau-nés ayant survécu ont été exposés à un risque accru de handicap neurologique permanent. Notre étude indique que la prise en charge optimale du deuxième stade du travail demeure un sujet controversé.

Antenatal and postnatal diagnosis of coxsackie b4 infection: case series.

Enteroviruses are a common cause of neonatal infection. In particular, Coxsackie B viruses are often associated with severe, fatal disease. The antenatal diagnosis of Coxsackie B viral infections is uncommon. We present a unique case of Coxsackie B4 virus ventriculitis and myocarditis causing fetal hydrops at 22 weeks gestation. Transmission was inferred by viral isolation from the amniotic fluid and by placental pathology. We also describe two additional cases of fatal neonatal Coxsackie B4 infection complicated by myocarditis and encephalitis with cerebral necrosis in a 4-day-old female and by myocarditis, spinal leptomeningitis, and hepatitis in a 4-day-old male. Transplacental acquisition of infection carries a poor prognosis. We propose that Coxsackie B virus should be considered in the investigation of nonimmune hydrops, particularly in the presence of cardiac dysfunction.

Engaging the next generation of health leaders: perspectives of emerging health leaders.

Identifying and engaging the next generation of emerging health leaders (EHLs) is a foremost challenge for the Canadian healthcare system. If intellectual capital is the currency of the 21st century, identifying and developing EHLs must be a strategic objective of innovative and progressive health organizations. We have integrated our experiential knowledge with some relevant findings from the literature and data collected from a cohort of EHLs to assist senior leaders and organizations with this challenge.

Conservative management of placenta accreta in a multiparous woman.

Placenta accreta refers to any abnormally invasive placental implantation. Diagnosis is suspected postpartum with failed delivery of a retained placenta. Massive obstetrical hemorrhage is a known complication, often requiring peripartum hysterectomy. We report a case of presumed placenta accreta in a patient following failed manual removal of a retained placenta. We describe an attempt at conservative management with methotrexate in a stable patient desiring future fertility. Treatment was unsuccessful and led to the development of a disseminated intrauterine infection complicated by a bowel obstruction, requiring both a hysterectomy and small bowel resection. In hemodynamically stable patients, conservative management of placenta accreta may involve leaving placental tissue in situ with subsequent administration of methotrexate. However, ongoing close observation is required to identify complications.