Meckel-Gruber (MKS) syndrome is a lethal autosomal abnormality diagnosed most commonly from classical findings on ultrasound scan after the late first trimester. There are few reports of cases followed up antenatally until delivery. We report here one of the largest series of 19 cases diagnosed antenatally from as early as 11 weeks gestation with 5 born alive. Of the 12 cases followed up antenatally, 7 were stillbirths while 5 were live births. The absence of obvious polycystic kidneys and severe oligohydramnios were prognostic features consistent with a live birth; however, mortality was 100% within a few weeks of delivery. The incidence of 2/1000 live births in the local population is similar to that reported from similar groups where consanguinity is more than 40%. The recurrence rate was high with 50% of the parous patients having had an affected baby. We conclude that diagnosis in early pregnancy does not require the classical triad of encephalocele, polydactyly and polycystic kidneys as some of these features do not manifest on imaging until much later.

Although uncommon, adrenal disorders in pregnancy are associated with severe complications, especially if undiagnosed or poorly managed. Some women are on long-term steroids (especially those known to suffer from adrenal insufficiency) that suppress endogenous adrenal function. Under stress, these can become insufficientparticularly around labour and the puerperium. Adrenal insufficiency, for example, has been associated with maternal and fetal morbidity and mortality if untreated, while phaeochromocytoma is associated with considerable maternal mortality. Clinical features, diagnosis and management of the disorders of the adrenals in pregnancy are discussed, including Cushing's syndrome, adrenal insufficiency, phaeochromocytoma and paragangliomas, primary aldosteronism and congenital adrenal hyperplasia. Learning objectivesTo understand the physiological changes in the adrenal system during pregnancy. To understand the clinical features of common adrenal problems in pregnancy and how they can be diagnosed and managed to minimise complications, especially acute adrenal insufficiency. To understand how the management of adrenal disorders is altered in pregnancy and the effect of adrenal diseases on pregnancy. Ethical issuesIs there a role for in utero therapy if a prenatal diagnosis is made? Does treatment of the mother affect the fetus? Is optimal treatment of the mother limited by concerns for the fetus?

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A BSTRACT Background: An elevated platelet count, or thrombocytosis, is a risk factor for cancer. This study will highlight the importance of primary health care providers’ awareness of the potential for malignancy in patients with thrombocytosis. Aim: To evaluate the prevalence of cancer among patients aged above 40 years with elevated platelet counts. Objectives: The purpose of the study was to analyze the prevalence of cancer among patients aged above 40 years at King Faisal Specialist Hospital and Research Centre (KFSHRC) who had thrombocytosis and a platelet count above 450 × 10 9/ L. A secondary objective was to examine whether primary care physicians were prompt in initiating investigation of these patients. This study’s findings will help primary care physicians thoroughly investigate thrombocytosis and develop guidelines that can be applied in primary care settings. Materials and Methods: This study was an observational cohort study. The data used originated from the family medicine patient Records at KFSHRC. The data were collected from electronic records by searching all the patient consultations and laboratory results that were available. Results: In total, 338 patients aged above 40 years had a platelet count above 450 × 10 9/ L. Of these patients, 68 were men (20%) and 270 were women (80%). Cancer was diagnosed within two years of thrombocytosis in 7.8% of patients ( n = 26), of whom 8 were men and 18 were women. Conclusion: It is necessary to enhance primary health care professionals’ awareness of the need to investigate the prevalence of cancer in patients with thrombocytosis.

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